Human DNA Repair Genes

This 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

This table was last modified by R. Wood and M. Lowery on Wednesday 10th June 2020

Base excision repair (BER)

Direct reversal of damage

Repair of DNA-protein crosslinks

Mismatch excision repair (MMR)

Nucleotide excision repair (NER)

Homologous recombination

Fanconi anemia

Non-homologous end-joining

Modulation of nucleotide pools

DNA polymerases (catalytic subunits)

Editing and processing nucleases

Ubiquitination and modification

Chromatin Structure

Genes defective in diseases associated with sensitivity to DNA damaging agents

Other identified genes with known or suspected DNA repair function

Other conserved DNA damage response genes

Related papers

Gene Name (synonyms)
linked to GeneCards

Some gene products act in more than one pathway, but each is listed only once below

linked to OMIM
Chromosome location
linked to Genome Data Viewer
Accession number
linked to NCBI Entrez

Base excision repair (BER)

DNA glycosylases: major altered base released

Top of Page

UNG U 12q24.11 NM_080911
SMUG1 U 12q13.13 NM_014311
MBD4 U or T opposite G at CpG sequences 3q21.3 NM_003925
TDG U, T or ethenoC opposite G 12q23.3 NM_003211
OGG1 8-oxoG opposite C 3p25.3 NM_016821
MUTYH (MYH) A opposite 8-oxoG 1p34.1 NM_012222
NTHL1 (NTH1) Ring-saturated or fragmented pyrimidines 16p13.3 NM_002528
MPG 3-meA, ethenoA, hypoxanthine 16p13.3 NM_002434
NEIL1 Removes thymine glycol 15q24.2 NM_024608
NEIL2 Removes oxidative products of pyrimidines 8p23.1 NM_145043
NEIL3 Removes oxidative products of pyrimidines 4q34 NM_018248

Top of Page

APEX1 (APE1) AP endonuclease 14q11.2 NM_001641
APEX2 AP endonuclease Xp11.21 NM_014481
LIG3 DNA Ligase III 17q12 NM_013975
XRCC1 LIG3 accessory factor 19q13.31 NM_006297
PNKP Converts some DNA breaks to ligatable ends 19q13.33 NM_007254
APLF Accessory factor for DNA end-joining 2p13.3 NM_173545
HMCES Reacts with AP sites 3q21.3 NM_020187

Top of Page

PARP1 (ADPRT) Protects strand interruptions 1q42.12 NM_001618
PARP2 (ADPRTL2) PARP-like enzyme 14q11.2 NM_005484
PARP3 (ADPRTL3) PARP-like enzyme 3p21.1 NM_001003931
PARG Poly(ADP-ribose) glycohydrolase 10q11.23 NM_003631
PARPBP Binds PARP and modulates recombination 12q23.2 NM_001319988
Direct reversal of damage

Top of Page

MGMT O6-meG alkyltransferase 10q26.3 NM_002412
ALKBH2 (ABH2) 1-meA dioxygenase 12q24.11 NM_001001655
ALKBH3 (DEPC1) 1-meA dioxygenase 11p11.2 NM_139178
Repair of DNA-protein crosslinks

Top of Page

TDP1 Removes 3'-tyrosylphosphate and 3'-phosphoglycolate from DNA; human disorder SCAN1 14q32.11 NM_018319
TDP2 (TTRAP) 5'- and 3'-tyrosyl DNA phosphodiesterase 6p22.3 NM_016614
SPRTN (Spartan) Reads ubiquitylation 1q42.12-q43 NM_032018
Mismatch excision repair (MMR)

Top of Page

MSH2 Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition


2p21 NM_000251
MSH3 5q14.1 NM_002439
MSH6 2p16.3 NM_000179
MLH1 MutL homologs, forming heterodimer


3p22.3 NM_000249
PMS2 7p22.1 NM_000535
MSH4 MutS homologs specialized for meiosis


1p31.1 NM_002440
MSH5 6p21.33 NM_002441
MLH3 MutL homologs of unknown function


14q24.3 NM_014381
PMS1 2q32.2 NM_000534
PMS2P3 (PMS2L3) 7q11.23 NM_005395
HFM1 Helicase in meiotic-crossover formation 1p22.2 NM_001017975
Nucleotide excision repair (NER) (XP = xeroderma pigmentosum)

Top of Page

XPC Binds DNA distortions


3p25.1 NM_004628
RAD23B 9q31.2 NM_002874
CETN2 Xq28 NM_004344
RAD23A Substitutes for RAD23B 19p13.13 NM_005053
XPA Binds damaged DNA in preincision complex 9q22.33 NM_000380
DDB1 Complex defective in XP group E


11q12.2 NM_001923
DDB2 (XPE) 11p11.2 NM_000107
RPA1 Binds DNA in preincision complex


17p13.3 NM_002945
RPA2 1p35.3 NM_002946
RPA3 7p21.3 NM_002947
TFIIH Catalyzes unwinding in preincision complex

Top of Page

ERCC3 (XPB) 3' to 5' DNA helicase 2q14.3 NM_000122
ERCC2 (XPD) 5' to 3' DNA helicase 19q13.32 NM_000400
GTF2H1 Core TFIIH subunit p62 11p15.1 NM_005316
GTF2H2 Core TFIIH subunit p44 5q13.2 NM_001515
GTF2H3 Core TFIIH subunit p34 12q24.31 NM_001516
GTF2H4 Core TFIIH subunit p52 6p21.33 NM_001517
GTF2H5 (TTDA) Core TFIIH subunit p8 6p25.3 NM_207118
GTF2E2 TFIIE subunit, mutated in TTD 8p12 NM_002095
CDK7 Kinase subunits of TFIIH


5q13.2 NM_001799
CCNH 5q14.3 NM_001239
MNAT1 14q23.1 NM_002431
ERCC5 (XPG) 3' incision 13q33.1 NM_000123
ERCC1 5' incision DNA binding subunit 19q13.32 NM_001983
ERCC4 (XPF) 5' incision catalytic subunit 16p13.12 NM_005236
LIG1 DNA ligase 19q13.32 NM_000234

Top of Page

ERCC8 (CSA) Cockayne syndrome and UV-Sensitive Syndrome; Needed for transcription-coupled NER


5q12.1 NM_000082
ERCC6 (CSB) 10q11.23 NM_000124
UVSSA (KIAA1530) 4p16.3 NM_020894
XAB2 (HCNP) Pre-mRNA splicing; Associates with PRPF19, CSA, CSB 19p13.2 NM_020196
MMS19 Iron-sulfur cluster loading and transport 10q24.1 NM_022362
Homologous recombination

Top of Page

RAD51 Homologous pairing 15q15.1 NM_002875
RAD51B Rad51 homolog 14q24.1 NM_002877
RAD51D Rad51 homolog 17q12 NM_002878
HELQ (HEL308) DNA helicase in RAD51 paralog complex 4q21.23 NM_133636
SWI5 Accessory factor for loading RAD51 9q34.11 NM_001040011
SWSAP1 Shu subunits, RAD51 recruitment


19p13.2 NM_175871
ZSWIM7 (SWS1) 17p12 NM_001042697
SPIDR 8q11.21 NM_001080394
PDS5B 13q13.1 NM_015032
DMC1 Rad51 homolog, meiosis 22q13.1 NM_007068
XRCC2 DNA break and crosslink repair


7q36.1 NM_005431
XRCC3 14q32.33 NM_005432
RAD52 Accessory factors for recombination


12p13.33 NM_134424
RAD54L 1p34.1 NM_003579
RAD54B 8q22.1 NM_012415
BRCA1 Accessory factor for transcription and recombination, E3 Ubiquitin ligase 17q21.31 NM_007294
BARD1 BRCA1-associated 2q35 NM_000465
ABRAXAS1 In BRCA1 A complex 4q21.23 NM_139076
PAXIP1 (PTIP) MDC1 paralog in 53BP1 pathway 7q36.2 NM_007349
SMC5 Recruit cohesion during HR


9q21.12 NM_015110
SMC6 2p24.2 NM_001142286
SHLD1 Suppressing end-resection


20p12.3 NM_001303477
SHLD2 (FAM35A) 10q23.2 NM_001330112
SHLD3 5q12.3 NM_001365341
SEM1 (SHFM1) (DSS1) BRCA2 associated 7q21.3 NM_006304
RAD50 ATPase in complex with MRE11A, NBS1 5q23.3 NM_005732
MRE11A 3' exonuclease, defective in ATLD (ataxia-telangiectasia-like disorder) 11q21 NM_005590
NBN (NBS1) Mutated in Nijmegen breakage syndrome 8q21.3 NM_002485
RBBP8 (CtIP) Promotes DNA end resection 18q11.2 NM_002894
MUS81 Subunits of structure-specific DNA nuclease


11q13.1 NM_025128
EME1 (MMS4L) 17q21.33 NM_152463
EME2 16p13.3 NM_001257370
SLX1A (GIYD1) Subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome


16p11.2 NM_001014999
SLX1B (GIYD2) 16p11.2 NM_024044
GEN1 Nuclease cleaving Holliday junctions 2p24.2 NM_182625
Fanconi anemia

Tolerance and repair of DNA crosslinks and other adducts in DNA

Top of Page


16q24.3 NM_000135
FANCB FANCB Xp22.31 NM_152633
FANCC FANCC 9q22.32 NM_000136
BRCA2 (FANCD1) Cooperation with RAD51, essential function 13q13.1 NM_000059
FANCD2 Target for monoubiquitination 3p25.3 NM_033084
FANCE FANCE 6p21.31 NM_021922
FANCF FANCF 11p14.3 NM_022725
FANCG (XRCC9) FANCG 9p13.3 NM_004629
FANCI (KIAA1794) target for monoubiquitination 15q26.1 NM_018193
BRIP1 (FANCJ) DNA helicase, BRCA1-interacting 17q23 NM_032043
FANCL FANCL 2p16.1 NM_018062
FANCM helicase / translocase 14q21.3 NM_020937


Co-localizes with BRCA2 (FANCD1) 16p12.1 NM_024675
RAD51C (FANCO) Rad51 homolog , FANCO 17q23.2 NM_002876
SLX4(FANCP) nuclease subunit / scaffold SLX4 , FANCP 16p13.3 NM_032444
FAAP20 (C1orf86) FANCA - associated 1p36.33 NM_182533
FAAP24 (C19orf40) FAAP24 19q13.11 NM_152266
FAAP100 Part of FA core complex 17q25.3 NM_025161
UBE2T (FANCT) E2 ligase for FANCL 1q32.1 NM_014176
Non-homologous end-joining

Top of Page

XRCC6 (Ku70) DNA end binding subunit 22q13.2 NM_001469
XRCC5 (Ku80) DNA end binding subunit 2q35 NM_021141
PRKDC DNA-dependent protein kinase catalytic subunit 8q11.21 NM_006904
LIG4 Ligase 13q33.3 NM_002312
XRCC4 Ligase accessory factor 5q14.2 NM_003401
DCLRE1C (Artemis) Nuclease 10p13 NM_022487
NHEJ1 (XLF, Cernunnos) End-joining factor 2q35 NM_024782
Modulation of nucleotide pools

Top of Page

NUDT1 (MTH1) 8-oxoGTPase 7p22.3 NM_002452
DUT dUTPase 15q21.1 NM_001948
RRM2B (p53R2) p53-inducible ribonucleotide reductase small subunit 2 homolog 8q22.3 NM_015713
PARK7 (DJ-1) Guanine glycation repair 1p36.23 NM_007262
DNPH1 Hydrolase for 5-hydroxymethyl deoxyuridine 6p21.1 NM_006443
NUDT15 (MTH2) Hydrolysis of thiopurines? 13q14.2 NM_018283
NUDT18 (MTH3) Hydrolysis of 8-hydroxypurine diphosphates 8p21.3 NM_024815
DNA polymerases

Top of Page

POLA1 DNA synthesis at resected ends Xp22.1-p21.3 NM_001330360
POLB BER in nuclear DNA 8p11.21 NM_002690

Pol delta subunits

POLD1 (catalytic subunit), POLD2 (Also subunit of pol zeta),

POLD3 (Also subunit of pol zeta), POLD4 (auxiliary subunit)

19q13.33 NM_002691
POLD2 7p13 NM_001127218
POLD3 11q13.4 NM_006591
POLD4 11q13.2 NM_021173
POLE (POLE1) Pol epsilon subunits


12q24.33 NM_006231
POLE2 14q21.3 NM_002692
POLE3 9q32 NM_017443
POLE4 2p12 NM_019896
REV3L (POLZ) DNA pol zeta catalytic subunit, essential function 6q21 NM_002912
MAD2L2 (REV7) DNA pol zeta and shieldin subunit 1p36.22 NM_006341
REV1 (REV1L) dCMP transferase 2q11.2 NM_016316
POLG Mitochondrial DNA repair and replication 15q26.1 NM_002693
POLH xeroderma pigmentosum (XP) variant 6p21.1 NM_006502
POLI (RAD30B) Lesion bypass 18q21.2 NM_007195
POLQ TMEJ (alt-EJ) 3q13.33 NM_199420
POLK (DINB1) Lesion bypass and NER 5q13.3 NM_016218
POLL Gap-filling during non-homologous end-joining 10q24.32 NM_013274
POLM Gap filling during non-homologous end-joining 7p13 NM_013284
POLN (POL4P) Lesion bypass / recombination? 4p16.3 NM_181808
PRIMPOL Primase and DNA-directed polymerase 4q35.1 NM_152683
DNTT Terminal transferase 10q24.1 NM_004088
Editing and processing nucleases

Top of Page

FEN1 (DNase IV) 5' nuclease 11q12.2 NM_004111
FAN1 (MTMR15) 5' nuclease interacting with FANCD2 15q13.2 NM_014967
TREX1 3' exonuclease
3p21.31 NM_033629
TREX2 3' exonuclease Xq28 NM_080701
EXO1 (HEX1) 5' exonuclease 1q43 NM_003686
APTX (aprataxin) Processing of DNA single-strand interruptions 9p21.1 NM_175073
SPO11 endonuclease 20q13.32 NM_012444
ENDOV incision 3' of hypoxanthine and uracil in DNA and inosine in RNA 17q25.3 NM_173627
DNA2 Seckel Syndrome 8 10q21.3 NM_001080449
DCLRE1A (SNM1A) 5'-3' exonuclease, DNA crosslink repair 10q25.3 NM_014881
DCLRE1B (SNM1B) 5' - 3' exonuclease, APOLLO 1p13.2 NM_022836
EXO5 exonuclease 1p34.2 NM_001346946
Ubiquitination and modification

Top of Page

UBE2A (RAD6A) Ubiquitin-conjugating enzyme Xq24-q25 NM_003336
UBE2B (RAD6B) Ubiquitin-conjugating enzyme 5q31.1 NM_003337
RAD18 E3 ubiquitin ligase 3p25.3 NM_020165
SHPRH E3 ubiquitin ligase, SWI/SNF related, homolog of S. cerevisiae Rad5 6q24.3 NM_001042683
HLTF (SMARCA3) E3 ubiquitin ligase, SWI/SNF related, homolog of S. cerevisiae Rad5 3q25.1-q26.1 NM_003071
RNF168 E3 ubiquitin ligase for DSB repair; ATM-like and RIDDLE syndrome 3q29 NM_152617
RNF8 E3 ubiquitin ligase for DSB repair 6p21.2 NM_003958
RNF4 E3 ubiquitin ligase 4p16.3 NM_001185009
UBE2V2 (MMS2) Ubiquitin-conjugating complex


8q11.21 NM_003350
UBE2N (UBC13) 12q22 NM_003348
USP1 Ubiquitin-specific protease for FANCD2, PCNA 1p31.3 NM_003368
WDR48 Necessary for USP1 activity 3p22.2 NM_020839
HERC2 Control of several DNA repair factors 15q13.1 NM_004667
Chromatin Structure and Modification

Top of Page

H2AX (H2AFX) Histone, phosphorylated after DNA damage 11q23.3 NM_002105
CHAF1A (CAF1) Chromatin assembly factor 19p13.3 NM_005483
SETMAR (METNASE) DNA damage-associated histone methylase and nuclease 3p26 NM_006515
ATRX Chromatin remodeling, transcription factor Xq21.1 NM_000489
Genes defective in diseases associated with sensitivity to DNA damaging agents

Top of Page

BLM Bloom syndrome helicase 15q26.1 NM_000057
RMI1 In BLM-TOP3A complex 9q21.32 NM_001358291
TOP3A Topoisomerase IIIa 17p11.2 NM_004618
WRN Werner syndrome helicase / 3' - exonuclease 8p12 NM_000553
RECQL4 Rothmund-Thompson syndrome 8q24.3 NM_004260
ATM ataxia telangiectasia 11q22.3 NM_000051
MPLKIP (TTDN1) non-photosensitive form of trichothiodystrophy 7p14 NM_138701
Other identified genes with known or suspected DNA repair function

Top of Page

RPA4 Similar to RPA2 Xp21.33 NM_013347
PRPF19 (PSO4) Pre-mRNA splicing; DNA crosslink repair; binding to SETMAR 11q12.2 NM_014502
RECQL (RECQ1) DNA helicase 12p12.1 NM_002907
RECQL5 DNA helicase 17q25.1 NM_001003715
RDM1 (RAD52B) Similar to RAD52 17q12 NM_145654
NABP2 (SSB1) Single-stranded DNA binding protein (ATM / MRN pathway) 12q13.3 NM_024068
Other conserved DNA damage response genes

Top of Page

ATR ATM- and PI-3K-like essential kinase 3q23 NM_001184
ATRIP ATR-interacting protein
3p21.31 NM_130384
MDC1 Mediator of DNA damage checkpoint 6p21.3 NM_014641
PCNA Sliding clamp for pol delta and pol epsilon 20p12.3 NM_002592
RAD1 subunits of PCNA-like sensor of damaged DNA


5p13.2 NM_002853
RAD9A 11q13.2 NM_004584
HUS1 7p12.3 NM_004507
RAD17 (RAD24) RFC-like DNA damage sensor 5q13.2 NM_002873
CHEK1 Effector kinases


11q24.2 NM_001274
CHEK2 22q12.1 NM_007194
TP53 Regulation of the cell cycle 17p13.1 NM_000546
TP53BP1 (53BP1) chromatin-binding checkpoint protein 15q15-q21 NM_001141980
RIF1 suppressor of 5'-end-resection 2q23.3 NM_001177665
TOPBP1 DNA damage checkpoint control 3q22.1 NM_007027
CLK2 S-phase check point and biological clock protein 1q21 NM_003993
PER1 S-phase check point and biological clock protein 17p12 NM_002616

Related Publications:

This table was last modified by R. Wood and M. Lowery on Wednesday 10th June 2020