Table 1

Human DNA repair genes. A version of this table with active links to Gene Cards (bioinformatics.weizmann.ac.il/cards) and to the National Center for Biotechnology Information is available (24) on Science Online. A version with updates is available at www.cgal.icnet.uk/DNA_Repair_Genes.html. XP, xeroderma pigmentosum.

Gene name (synonyms)ActivityChromosome locationAccession number
Base excision repair (BER)
DNA glycosylases: major altered base released
UNGU12q23-q24.1NM_003362
SMUG1U12q13.1-q14NM_014311
MBD4U or T opposite G at CpG sequences3q21-q22NM_003925
TDGU, T or ethenoC opposite G12q24.1NM_003211
OGG18-oxoG opposite C3p26.2NM_002542
MYHA opposite 8-oxoG1p34.3-p32.1NM_012222
NTH1Ring-saturated or fragmented pyrimidines16p13.3-p13.2NM_002528
MPG3-meA, ethenoA, hypoxanthine16p13.3NM_002434
Other BER factors
APE1 (HAP1, APEX, REF1)AP endonuclease14q12NM_001641
APE2 (APEXL2)AP endonucleaseXNM_014481
LIG3Main ligation function17q11.2-q12NM_013975
XRCC1Main ligation function19q13.2NM_006297
Poly(ADP-ribose) polymerase (PARP) enzymes
ADPRTProtects strand interruptions1q42NM_001618
ADPRTL2PARP-like enzyme14q11.2-q12NM_005485
ADPRTL3PARP-like enzyme3p21.1-p22.2 AF085734
Direct reversal of damage
MGMTO6-meG alkyltransferase10q26NM_002412
Mismatch excision repair (MMR)
MSH2Mismatch and loop recognition2p22-p21NM_000251
MSH3Mismatch and loop recognition5q11-q12NM_002439
MSH6Mismatch recognition2p16NM_000179
MSH4MutS homolog specialized for meiosis1p31NM_002440
MSH5MutS homolog specialized for meiosis6p21.3NM_002441
PMS1Mitochondrial MutL homolog2q31.1NM_000534
MLH1MutL homolog3p21.3NM_000249
PMS2MutL homolog7p22NM_000535
MLH3MutL homolog of unknown function14q24.3NM_014381
PMS2L3MutL homolog of unknown function7q11-q22 D38437
PMS2L4MutL homolog of unknown function7q11-q22 D38438
Nucleotide excision repair (NER)
XPCBinds damaged DNA as complex3p25NM_004628
RAD23B (HR23B)Binds damaged DNA as complex3p25.1NM_002874
CETN2Binds damaged DNA as complexXq28NM_004344
RAD23A (HR23A)Substitutes for HR23B19p13.2NM_005053
XPABinds damaged DNA in preincision complex9q22.3NM_000380
RPA1Binds DNA in preincision complex17p13.3NM_ 002945
RPA2Binds DNA in preincision complex1p35NM_002946
RPA3Binds DNA in preincision complex7p22NM_002947
TFIIHCatalyzes unwinding in preincision complex
XPB (ERCC3)3′ to 5′ DNA helicase2q21NM_000122
XPD (ERCC2)5′ to 3′ DNA helicase19q13.2-q13.3X52221
GTF2H1Core TFIIH subunit p6211p15.1-p14NM_005316
GTF2H2Core TFIIH subunit p445q12.2-q13.3NM_001515
GTF2H3Core TFIIH subunit p3412qNM_001516
GTF2H4Core TFIIH subunit p526p21.3NM_001517
CDK7Kinase subunit of TFIIH2p15-cenNM_001799
CCNHKinase subunit of TFIIH5q13.3-q14NM_001239
MNAT1Kinase subunit of TFIIH14q23NM_002431
XPG (ERCC5)3′ incision13q33NM_000123
ERCC15′ incision subunit19q13.2-q13.3NM_001983
XPF (ERCC4)5′ incision subunit16p13.3-p13.13NM_005236
LIG1DNA joining19q13.2-q13.3NM_000234
NER-related
CSA (CKN1)Cockayne syndrome; needed for transcription-coupled NER5q12-q31NM_000082
CSB (ERCC6)Cockayne syndrome; needed for transcription-coupled NER10q11NM_000124
XAB2 (HCNP)Cockayne syndrome; needed for transcription-coupled NER19NM_020196
DDB1Complex defective in XP group E11q12-q13NM_001923
DDB2Mutated in XP group E11p12-p11NM_000107
MMS19Transcription and NER10q24.1 AW852889
Homologous recombination
RAD51Homologous pairing15q15.1NM_002875
RAD51L1 (RAD51B)Rad51 homolog14q23-q24 U84138
RAD51CRad51 homolog17q11-qterNM_002876
RAD51L3 (RAD51D)Rad51 homolog17q11NM_002878
Gene name (synonyms)ActivityChromosome locationAccession number
DMC1Rad51 homolog, meiosis22q13.1NM_007068
XRCC2DNA break and cross-link repair7q36.1NM_005431
XRCC3DNA break and cross-link repair14q32.3NM_005432
RAD52Accessory factor for recombination12p13-p12.2NM_002879
RAD54LAccessory factor for recombination1p32NM_003579
RAD54BAccessory factor for recombination8q21.3-q22NM_012415
BRCA1Accessory factor for transcription and recombination17q21NM_007295
BRCA2Cooperation with RAD51, essential function13q12.3NM_000059
RAD50ATPase in complex with MRE11A, NBS15q31NM_005732
MRE11A3′ exonuclease11q21NM_005590
NBS1Mutated in Nijmegen breakage syndrome8q21-q24NM_002485
mdit>Nonhomologous end-joining
Ku70 (G22P1)DNA end binding22q13.2-q13.31NM_001469
Ku80 (XRCC5)DNA end binding2q35 M30938
PRKDCDNA-dependent protein kinase catalytic subunit8q11NM_006904
LIG4Nonhomologous end-joining13q33-q34NM_002312
XRCC4Nonhomologous end-joining5q13-q14NM_003401
Sanitization of nucleotide pools
MTH1 (NUDT1)8-oxoGTPase7p22NM_002452
DUTdUTPase15q15-q21.1NM_001948
DNA polymerases (catalytic subunits)
POLBBER in nuclear DNA8p11.2NM_002690
POLGBER in mitochondrial DNA15q25NM_002693
POLD1NER and MMR19q13.3NM_002691
POLE1NER and MMR12q24.3NM_006231
PCNASliding clamp for pol delta and pol epsilon20p12NM_002592
REV3L (POLZ)DNA pol zeta catalytic subunit, essential function6q21NM_002912
REV7 (MAD2L2)DNA pol zeta subunit1p36NM_006341
REV1dCMP transferase2q11.1-q11.2NM_016316
POLHXP variant6p12.2-p21.1NM_006502
POLI (RAD30B)Lesion bypass18q21.1NM_007195
POLQDNA cross-link repair3q13.31NM_006596
DINB1 (POLK)Lesion bypass5q13NM_016218
POLLMeiotic function10q23NM_013274
POLMPresumed specialized lymphoid function7p13NM_013284
TRF4-1Sister-chromatid cohesion5p15 AF089896
TRF4-2Sister-chromatid cohesion16p13.3 AF089897
Editing and processing nucleases
FEN1 (DNase IV)5′ nuclease11q12NM_004111
TREX1 (DNase III)3′ exonuclease3p21.2-p21.3NM_007248
TREX23′ exonucleaseXq28NM_007205
EX01 (HEX1)5′ exonuclease1q42-q43NM_003686
SPO11endonuclease20q13.2-q13.3NM_012444
Rad6 pathway
UBE2A (RAD6A)Ubiquitin-conjugating enzymeXq24-q25NM_003336
UBE2B (RAD6B)Ubiquitin-conjugating enzyme5q23-q31NM_003337
RAD18Assists repair or replication of damaged DNA3p24-p25 AB035274
UBE2VE (MMS2)Ubiquitin-conjugating complex8p AF049140
UBE2N (UBC13, BTG1)Ubiquitin-conjugating complex12NM_003348
Genes defective in diseases associated with sensitivity to DNA damaging agents
BLMBloom syndrome helicase15q26.1NM_000057
WRNWerner syndrome helicase/3′-exonuclease8p12-p11.2NM_000553
RECQL4Rothmund-Thompson syndrome8q24.3NM_004260
ATMAtaxia telangiectasia11q22-q23NM_000051
Fanconi anemia
FANCAInvolved in tolerance or repair of DNA cross-links16q24.3NM_000135
FANCBInvolved in tolerance or repair of DNA cross-linksN/AN/A
FANCCInvolved in tolerance or repair of DNA cross-links9q22.3NM_000136
FANCDInvolved in tolerance or repair of DNA cross-links3p26-p22N/A
FANCEInvolved in tolerance or repair of DNA cross-links6p21-p22NM_021922
FANCFInvolved in tolerance or repair of DNA cross-links11p15 AF181994
FANCG (XRCC9)Involved in tolerance or repair of DNA cross-links9p13NM_004629
Other identified genes with a suspected DNA repair function
SNM1 (PS02)DNA cross-link repair10q25 D42045
SNM1BRelated to SNM11p13.1-p13.3 AL137856
SNM1CRelated to SNM110 AA315885
RPA4Similar to RPA2XqNM_013347
ABH (ALKB)Resistance to alkylation damage14q24 X91992
PNKPConverts some DNA breaks to ligatable ends19q13.3-q13.4NM_007254
Gene name (synonyms)ActivityChromosome locationAccession number
Other conserved DNA damage response genes
ATRATM- and PI-3K–like essential kinase3q22-q24NM_001184
RAD1 (S. pombe) homologPCNA-like DNA damage sensor5p13.3-p13.2NM_002853
RAD9 (S. pombe) homologPCNA-like DNA damage sensor11q13.1-q13.2NM_004584
HUS1 (S. pombe) homologPCNA-like DNA damage sensor7p13-p12NM_004507
RAD17 (RAD24)RFC-like DNA damage sensor5q13NM_002873
TP53BP1BRCT protein15q15-q21NM_005657
CHEK1Effector kinase11q22-q23NM_001274
CHK2 (Rad53)Effector kinase22q12.1NM_007194