Description
A list of genes originally sourced from the Human DNA Repair Genes Database available here: http://sciencepark.mdanderson.org/labs/wood/dna_repair_genes.html which is an update of the table cited in Wood RD, Mitchell M, & Lindahl T Mutation Research, 2005, in Science, 2001, in the reference book DNA Repair and Mutagenesis, 2nd edition, 2006, and in Nature Reviews Cancer, 2011.
Panel Activity

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

178 Entities

11 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
178 Entitiess
Red Red List (low evidence)
ALKBH2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Direct reversal of damage
  • Activity: 1-meA dioxygenase
Tags
Red Red List (low evidence)
ALKBH3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Direct reversal of damage
  • Activity: 1-meA dioxygenase
Tags
Red Red List (low evidence)
APEX1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: AP endonuclease
Tags
Red Red List (low evidence)
APEX2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: AP endonuclease
Tags
Red Red List (low evidence)
APLF
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: Accessory factor for DNA end-joining
Tags
Red Red List (low evidence)
APTX
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: Processing of DNA single-strand interruptions
Tags
Red Red List (low evidence)
ATM
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: ataxia telangiectasia
Tags
Red Red List (low evidence)
ATR
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: ATM- and PI-3K-like essential kinase
Tags
Red Red List (low evidence)
ATRIP
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: ATR-interacting protein
Tags
Red Red List (low evidence)
BLM
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: Bloom syndrome helicase
Tags
Red Red List (low evidence)
BRCA1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factor for transcription and recombination, E3 Ubiquitin ligase
Tags
Red Red List (low evidence)
BRCA2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: Cooperation with RAD51, essential function
Tags
Red Red List (low evidence)
BRIP1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: DNA helicase, BRCA1-interacting
Tags
Red Red List (low evidence)
CCNH
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Kinase subunits of TFIIH
Tags
Red Red List (low evidence)
CDK7
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Kinase subunits of TFIIH
Tags
Red Red List (low evidence)
CETN2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA distortions
Tags
Red Red List (low evidence)
CHAF1A
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Chromatin Structure and Modification
  • Activity: Chromatin assembly factor
Tags
Red Red List (low evidence)
CHEK1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Effector kinases
Tags
Red Red List (low evidence)
CHEK2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Effector kinases
Tags
Red Red List (low evidence)
CLK2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: S-phase check point and biological clock protein
Tags
Red Red List (low evidence)
DCLRE1A
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA crosslink repair
Tags
Red Red List (low evidence)
DCLRE1B
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Related to SNM1
Tags
Red Red List (low evidence)
DCLRE1C
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: Nuclease
Tags
Red Red List (low evidence)
DDB1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Complex defective in XP group E
Tags
Red Red List (low evidence)
DDB2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Complex defective in XP group E
Tags
Red Red List (low evidence)
DMC1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Rad51 homolog, meiosis
Tags
Red Red List (low evidence)
DUT
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Modulation of nucleotide pools
  • Activity: dUTPase
Tags
Red Red List (low evidence)
EME1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Subunits of structure-specific DNA nuclease
Tags
Red Red List (low evidence)
EME2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Subunits of structure-specific DNA nuclease
Tags
Red Red List (low evidence)
ENDOV
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: incision 3' of hypoxanthine and uracil in DNA and inosine in RNA
Tags
Red Red List (low evidence)
ERCC1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 5' incision DNA binding subunit
Tags
Red Red List (low evidence)
ERCC2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 5' to 3' DNA helicase
Tags
Red Red List (low evidence)
ERCC3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 3' to 5' DNA helicase
Tags
Red Red List (low evidence)
ERCC4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 5' incision catalytic subunit
Tags
Red Red List (low evidence)
ERCC5
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 3' incision
Tags
Red Red List (low evidence)
ERCC6
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Cockayne syndrome and UV-Sensitive Syndrome
  • Needed for transcription-coupled NER
Tags
Red Red List (low evidence)
ERCC8
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Cockayne syndrome and UV-Sensitive Syndrome
  • Needed for transcription-coupled NER
Tags
Red Red List (low evidence)
EXO1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 5' exonuclease
Tags
Red Red List (low evidence)
FAAP20
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: FANCA - associated
Tags
Red Red List (low evidence)
FAAP24
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: FAAP24
Tags
Red Red List (low evidence)
FAN1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 5' nuclease interacting with FANCD2
Tags
Red Red List (low evidence)
FANCA
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red Red List (low evidence)
FANCB
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red Red List (low evidence)
FANCC
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red Red List (low evidence)
FANCD2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: target for monoubiquitination
Tags
Red Red List (low evidence)
FANCE
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red Red List (low evidence)
FANCF
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red Red List (low evidence)
FANCG
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
Tags
Red Red List (low evidence)
FANCI
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: target for monoubiquitination
Tags
Red Red List (low evidence)
FANCL
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA:
Tags
Red Red List (low evidence)
FANCM
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: helicase/translocase
Tags
  • drug-toxicity
Red Red List (low evidence)
FEN1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 5' nuclease
Tags
Red Red List (low evidence)
GEN1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Nuclease cleaving Holliday junctions
Tags
Red Red List (low evidence)
GTF2H1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p62
Tags
Red Red List (low evidence)
GTF2H2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p44
Tags
Red Red List (low evidence)
GTF2H3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p34
Tags
Red Red List (low evidence)
GTF2H4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p52
Tags
Red Red List (low evidence)
GTF2H5
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Core TFIIH subunit p8
Tags
Red Red List (low evidence)
H2AFX
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Chromatin Structure and Modification
  • Activity: Histone, phosphorylated after DNA damage
Tags
  • new-gene-name
Red Red List (low evidence)
HELQ
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA helicase
Tags
Red Red List (low evidence)
HLTF
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase, SWI/SNF related, homolog of S. cerevisiae Rad5
Tags
Red Red List (low evidence)
HUS1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: subunits of PCNA-like sensor of damaged DNA
Tags
Red Red List (low evidence)
LIG1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: DNA ligase
Tags
Red Red List (low evidence)
LIG3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: DNA Ligase III
Tags
Red Red List (low evidence)
LIG4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: Ligase
Tags
Red Red List (low evidence)
MAD2L2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: DNA pol zeta subunit
Tags
Red Red List (low evidence)
MBD4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U or T opposite G at CpG sequences
Tags
Red Red List (low evidence)
MDC1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Mediator of DNA damage checkpoint
Tags
Red Red List (low evidence)
MGMT
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Direct reversal of damage
  • Activity: O6-meG alkyltransferase
Tags
Red Red List (low evidence)
MLH1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs, forming heterodimer
Tags
Red Red List (low evidence)
MLH3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs of unknown function
Tags
Red Red List (low evidence)
MMS19
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Iron-sulfur cluster loading and transport
Tags
Red Red List (low evidence)
MNAT1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex.
Tags
Red Red List (low evidence)
MPG
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:3-meA, ethenoA, hypoxanthine
Tags
Red Red List (low evidence)
MPLKIP
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: non-photosensitive form of trichothiodystrophy
Tags
Red Red List (low evidence)
MRE11
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: 3' exonuclease, defective in ATLD (ataxia-telangiectasia-like disorder)
Tags
Red Red List (low evidence)
MSH2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition
Tags
Red Red List (low evidence)
MSH3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition
Tags
Red Red List (low evidence)
MSH4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutS homologs specialized for meiosis
Tags
Red Red List (low evidence)
MSH5
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutS homologs specialized for meiosis
Tags
Red Red List (low evidence)
MSH6
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition
Tags
Red Red List (low evidence)
MUS81
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Subunits of structure-specific DNA nuclease
Tags
Red Red List (low evidence)
MUTYH
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:A opposite 8-oxoG
Tags
Red Red List (low evidence)
NABP2
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Single-stranded DNA binding protein
Tags
Red Red List (low evidence)
NBN
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Mutated in Nijmegen breakage syndrome
Tags
Red Red List (low evidence)
NEIL1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Removes thymine glycol
Tags
Red Red List (low evidence)
NEIL2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Removes oxidative products of pyrimidines
Tags
Red Red List (low evidence)
NEIL3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Removes oxidative products of pyrimidines
Tags
Red Red List (low evidence)
NHEJ1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: End-joining factor
Tags
Red Red List (low evidence)
NTHL1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:Ring-saturated or fragmented pyrimidines
Tags
Red Red List (low evidence)
NUDT1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Modulation of nucleotide pools
  • Activity: 8-oxoGTPase
Tags
Red Red List (low evidence)
OGG1
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:8-oxoG opposite C
Tags
Red Red List (low evidence)
PALB2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: co-localizes with BRCA2 (FANCD1)
Tags
Red Red List (low evidence)
PARP1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA
  • Activity: Protects strand interruptions
Tags
Red Red List (low evidence)
PARP2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA
  • Activity: PARP-like enzyme
Tags
Red Red List (low evidence)
PARP3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA
  • Activity: PARP-like enzyme
Tags
Red Red List (low evidence)
PCNA
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Sliding clamp for pol delta and pol epsilon
Tags
Red Red List (low evidence)
PER1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: S-phase check point and biological clock protein
Tags
Red Red List (low evidence)
PMS1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs of unknown function
Tags
Red Red List (low evidence)
PMS2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs, forming heterodimer
Tags
Red Red List (low evidence)
PMS2P3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Mismatch excision repair (MMR)
  • Activity: MutL homologs of unknown function
Tags
Red Red List (low evidence)
PNKP
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: Converts some DNA breaks to ligatable ends
Tags
Red Red List (low evidence)
POLB
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: BER in nuclear DNA
Tags
Red Red List (low evidence)
POLD1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: NER and MMR
Tags
Red Red List (low evidence)
POLE
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: NER and MMR
Tags
Red Red List (low evidence)
POLG
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: BER in mitochondrial DNA
Tags
Red Red List (low evidence)
POLH
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: xeroderma pigmentosum (XP) variant
Tags
Red Red List (low evidence)
POLI
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Lesion bypass
Tags
Red Red List (low evidence)
POLK
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Lesion bypass and NER
Tags
Red Red List (low evidence)
POLL
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Gap-filling during non-homologous end-joining
Tags
Red Red List (low evidence)
POLM
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Gap filling during non-homologous end-joining
Tags
Red Red List (low evidence)
POLN
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: DNA crosslink repair?
Tags
Red Red List (low evidence)
POLQ
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: Sensitivity to ionizing radiation
Tags
Red Red List (low evidence)
PRKDC
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: DNA-dependent protein kinase catalytic subunit
Tags
Red Red List (low evidence)
PRPF19
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA crosslink repair
  • binding to SETMAR
Tags
Red Red List (low evidence)
RAD1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: subunits of PCNA-like sensor of damaged DNA
Tags
Red Red List (low evidence)
RAD17
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: RFC-like DNA damage sensor
Tags
Red Red List (low evidence)
RAD18
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase
Tags
Red Red List (low evidence)
RAD23A
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Substitutes for RAD23B
Tags
Red Red List (low evidence)
RAD23B
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA distortions
Tags
Red Red List (low evidence)
RAD50
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: ATPase in complex with MRE11A, NBS1
Tags
Red Red List (low evidence)
RAD51
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Homologous pairing
Tags
Red Red List (low evidence)
RAD51B
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Rad51 homolog
Tags
Red Red List (low evidence)
RAD51C
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: Rad51 homolog FANCO
Tags
Red Red List (low evidence)
RAD51D
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Rad51 homolog
Tags
Red Red List (low evidence)
RAD52
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factors for recombination
Tags
Red Red List (low evidence)
RAD54B
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factors for recombination
Tags
Red Red List (low evidence)
RAD54L
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Accessory factors for recombination
Tags
Red Red List (low evidence)
RAD9A
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: subunits of PCNA-like sensor of damaged DNA
Tags
Red Red List (low evidence)
RBBP8
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: Promotes DNA end resection
Tags
Red Red List (low evidence)
RDM1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Similar to RAD52
Tags
Red Red List (low evidence)
RECQL
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA helicase
Tags
Red Red List (low evidence)
RECQL4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: Rothmund-Thompson syndrome
Tags
Red Red List (low evidence)
RECQL5
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: DNA helicase
Tags
Red Red List (low evidence)
REV1
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: dCMP transferase
Tags
Red Red List (low evidence)
REV3L
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: DNA polymerases (catalytic subunits)
  • Activity: DNA pol zeta catalytic subunit, essential function
Tags
Red Red List (low evidence)
RIF1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: suppressor of 5'-end-resection
Tags
Red Red List (low evidence)
RNF168
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase for DSB repair
  • ATM-like and RIDDLE syndrome
Tags
Red Red List (low evidence)
RNF4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase
Tags
Red Red List (low evidence)
RNF8
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase for DSB repair
Tags
Red Red List (low evidence)
RPA1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA in preincision complex
Tags
Red Red List (low evidence)
RPA2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA in preincision complex
Tags
Red Red List (low evidence)
RPA3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA in preincision complex
Tags
Red Red List (low evidence)
RPA4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other identified genes with known or suspected DNA repair function
  • Activity: Similar to RPA2
Tags
Red Red List (low evidence)
RRM2B
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Modulation of nucleotide pools
  • Activity: p53-inducible ribonucleotide reductase small subunit 2 homolog
Tags
Red Red List (low evidence)
SEM1
1 review
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: BRCA2 associated
Tags
Red Red List (low evidence)
SETMAR
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Chromatin Structure and Modification
  • Activity: DNA damage-associated histone methylase and nuclease
Tags
Red Red List (low evidence)
SHPRH
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: E3 ubiquitin ligase, SWI/SNF related, homolog of S. cerevisiae Rad5
Tags
Red Red List (low evidence)
SLX1A
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome
Tags
Red Red List (low evidence)
SLX1B
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome
Tags
Red Red List (low evidence)
SLX4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Fanconi anemia
  • Tolerance and repair of DNA crosslinks and other adducts in DNA: nuclease subunit/scaffold BTBD12 (SLX4) FANCP
Tags
Red Red List (low evidence)
SMUG1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U
Tags
Red Red List (low evidence)
SPO11
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: endonuclease
Tags
Red Red List (low evidence)
SPRTN
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Reads ubiquitylation
Tags
Red Red List (low evidence)
TDG
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U, T or ethenoC opposite G
Tags
Red Red List (low evidence)
TDP1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Repair of DNA-topoisomerase crosslinks
  • Activity: Removes 3'-tyrosylphosphate and 3'-phosphoglycolate from DNA
  • human disorder SCAN1
Tags
Red Red List (low evidence)
TDP2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Repair of DNA-topoisomerase crosslinks
  • Activity: 5'- and 3'-tyrosyl DNA phosphodiesterase
Tags
Red Red List (low evidence)
TOPBP1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: DNA damage checkpoint control
Tags
Red Red List (low evidence)
TP53
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: Regulation of the cell cycle
Tags
Red Red List (low evidence)
TP53BP1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other conserved DNA damage response genes
  • Activity: chromatin-binding checkpoint protein
Tags
Red Red List (low evidence)
TREX1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 3' exonuclease
Tags
Red Red List (low evidence)
TREX2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Editing and processing nucleases
  • Activity: 3' exonuclease
Tags
Red Red List (low evidence)
UBE2A
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating enzyme
Tags
Red Red List (low evidence)
UBE2B
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating enzyme
Tags
Red Red List (low evidence)
UBE2N
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating complex
Tags
Red Red List (low evidence)
UBE2V2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Ubiquitination and modification
  • Activity: Ubiquitin-conjugating complex
Tags
Red Red List (low evidence)
UNG
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Base excision repair (BER)
  • DNA glycosylases, major altered base released:U
Tags
Red Red List (low evidence)
UVSSA
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: 4p16.3
Tags
Red Red List (low evidence)
WRN
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
  • Activity: Werner syndrome helicase / 3' - exonuclease
Tags
Red Red List (low evidence)
XAB2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: XAB2
Tags
Red Red List (low evidence)
XPA
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds damaged DNA in preincision complex
Tags
Red Red List (low evidence)
XPC
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Nucleotide excision repair (NER)
  • Activity: Binds DNA distortions
Tags
Red Red List (low evidence)
XRCC1
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Other BER and strand break joining factors
  • Activity: LIG3 accessory factor
Tags
Red Red List (low evidence)
XRCC2
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: DNA break and crosslink repair
Tags
Red Red List (low evidence)
XRCC3
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Homologous recombination
  • Activity: DNA break and crosslink repair
Tags
Red Red List (low evidence)
XRCC4
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: Ligase accessory factor
Tags
Red Red List (low evidence)
XRCC5
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: DNA end binding subunit
Tags
Red Red List (low evidence)
XRCC6
0 reviews
 Not set
Sources
  • Human DNA Repair Genes Database
Phenotypes
  • Class: Non-homologous end-joining
  • Activity: DNA end binding subunit
Tags

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