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Human DNA Repair Genes

Introduction

This is an update of the table cited in Wood RD, Mitchell M, Sgouros J and Lindahl T Science (2001); Wood RD, et al, Mutation Research (2005); Friedbeg EC, et al, DNA Repair and Mutagenesis, Second Edition (2006); and Lange SS, et al, Nature Reviews Cancer (2011).

Note that some gene products act in more than one pathway, but each is listed only once in the tables below.

Table information was last updated by R. Wood and B. Dennehey, November 2025.

Base excision repair (BER)

Gene Name (synonyms; Linked to GeneCards)	Activity (DNA glycosylases: major altered base released; Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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
Other BER and strand break joining factors
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
Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA
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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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)

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
MSH2	Mismatch and loop recognition MSH2	2p21	NM_000251
MSH3	Loop recognition MSH3	5q14.1	NM_002439
MSH6	Mismatch recognition MSH6	2p16.3	NM_000179
MLH1	MutL homolog, forming MLH1-PMS2 heterodimer (stable alone) MLH1	3p22.3	NM_000249
PMS2	MutL homolog, forming MLH1-PMS2 heterodimer (unstable alone) PMS2	7p22.1	NM_000535
MSH4	MutS homologs specialized for meiosis MSH4	1p31.1	NM_002440
MSH5	MutS homologs specialized for meiosis MSH5	6p21.33	NM_002441
MLH3	MutL homologs of unknown function MLH3	14q24.3	NM_014381
PMS1	MutL homologs of unknown function PMS1	2q32.2	NM_000534
PMS2P3 (PMS2L3)	MutL homologs of unknown function PMS2L3	7q11.23	NM_005395
HFM1	Helicase in meiotic-crossover formation HFM1	1p22.2	NM_001017975

Nucleotide excision repair (NER)

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
XPC	Binds DNA distortions XPC	3p25.1	NM_004628
RAD23B	XPC complex component RAD23B	9q31.2	NM_002874
CETN2	XPC complex component 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 EDDB1	11q12.2	NM_001923
DDB2 (XPE)	Complex defective in XP group DDB2	11p11.2	NM_000107
RPA1	Binds DNA in preincision complex RPA1	17p13.3	NM_002945
RPA2	Binds DNA in preincision complex RPA2	1p35.3	NM_002946
RPA3	Binds DNA in preincision complex RPA3	7p21.3	NM_002947
TFIIH Subunits (ERCC2-MNAT1)
ERCC3 (XPB)	3' to 5' DNA helicase in TFIIH	2q14.3	NM_000122
ERCC2 (XPD)	5' to 3' DNA helicase in TFIIH	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 (XPF)	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	CDK7 kinase subunit of TFIIH	5q13.2	NM_001799
CCNH	Cyclin subunit of TFIIH kinase module CCNH	5q14.3	NM_001239
MNAT1	Subunit of TFIIH kinase module MNAT1	14q23.1	NM_002431
Other NER-Related Genes/Proteins
ERCC5 (XPG)	3' incision making protein for NER	13q33.1	NM_000123
ERCC1	5' incision DNA binding subunit for NER	19q13.32	NM_001983
ERCC4 (XPF)	5' incision catalytic subunit for NER	16p13.12	NM_005236
LIG1	DNA ligase	19q13.32	NM_000234
ERCC8 (CSA)	Cockayne syndrome; Needed for transcription-coupled NER ERCC8	5q12.1	NM_000082
ERCC6 (CSB)	Cockayne syndrome; Needed for transcription-coupled NER ERCC6	10q11.23	NM_000124
UVSSA (KIAA1530)	UV-Sensitive Syndrome; Needed for transcription-coupled NER UVSSA	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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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 subunit, RAD51 recruitment SWSAP1	19p13.2	NM_175871
ZSWIM7 (SWS1)	Shu subunit, RAD51 recruitment ZSWIM7	17p12	NM_001042697
SPIDR	Shu subunit, RAD51 recruitment SPIDR	8q11.21	NM_001080394
PDS5B	Shu subunit, RAD51 recruitment PDS5B	13q13.1	NM_015032
DMC1	Rad51 homolog, meiosis	22q13.1	NM_007068
XRCC2	DNA break and crosslink repair XRCC2	7q36.1	NM_005431
XRCC3	DNA break and crosslink repair XRCC3	14q32.33	NM_005432
RAD52	Accessory factors for recombination RAD52	12p13.33	NM_134424
RAD54L	Accessory factors for recombination RAD54L	1p34.1	NM_003579
RAD54B	Accessory factors for recombination 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 cohesin during HR SMC5	9q21.12	NM_015110
SMC6	Recruit cohesin during HR SMC6	2p24.2	NM_001142286
SHLD1	Suppressing end-resection SHLD1	20p12.3	NM_001303477
SHLD2 (FAM35A)	Suppressing end-resection SHLD2	10q23.2	NM_001330112
SHLD3	Suppressing end-resection 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	Subunit of structure-specific DNA nuclease MUS81	11q13.1	NM_025128
EME1 (MMS4L)	Subunit of structure-specific DNA nuclease EME1	17q21.33	NM_152463
EME2	Subunit of structure-specific DNA nuclease EME2	16p13.3	NM_001257370
SLX1A (GIYD1)	Subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome SLX1A	16p11.2	NM_001014999
SLX1B (GIYD2)	Subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome SLX1B	16p11.2	NM_024044
GEN1	Nuclease cleaving	2p24.2	NM_182625

Fanconi anemia

Gene Name (synonyms; (Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
FANCA	FANCA	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
PALB2 (FANCN)	Co-localizes with BRCA2 (FANCD1)	16p12.1	NM_024675
RAD51C (FANCO)	Rad51 homolog, FANCO	17q23.2	NM_002876
SLX4(FANCP)	Nuclease subunit / s caffold 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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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 (catalytic subunits)

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
POLA1	DNA synthesis at resected ends	Xp22.1-p21.3	NM_001330360
POLB	BER in nuclear DNA	8p11.21	NM_002690
POLD1	POLD1 (catalytic subunit of Pol delta)	19q13.33	NM_002691
POLD2	POLD2 (Subunit of pol delta and pol zeta)	7p13	NM_001127218
POLD3	POLD3 (Subunit of pol delta and pol zeta)	11q13.4	NM_006591
POLD4	POLD4 (auxiliary subunit of Pol delta)	11q13.2	NM_021173
POLE (POLE1)	POLE1 (Pol epsilon subunit)	12q24.33	NM_006231
POLE2	POLE2 (Pol epsilon subunit)	14q21.3	NM_002692
POLE3	POLE3 (Pol epsilon subunit)	9q32	NM_017443
POLE4	POLE4 (Pol epsilon subunit)	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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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 subunit UBE2V2,	8q11.21	NM_003350
UBE2N (UBC13)	Ubiquitin-conjugating complex subunit UBE2N	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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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 genes with known or suspected DNA repair functions

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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

Gene Name (synonyms; Linked to GeneCards)	Activity (Linked to OMIM)	Chromosome location (Linked to Genome Data Viewer)	Accession number (Linked to NCBI Entrez)
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	Subunit of PCNA-like sensor of damaged DNA RAD1	5p13.2	NM_002853
RAD9A	Subunit of PCNA-like sensor of damaged DNA RAD9	11q13.2	NM_004584
HUS1	Subunits of PCNA-like sensor of damaged DNA HUS1	7p12.3	NM_004507
RAD17 (RAD24)	RFC-like DNA damage sensor	5q13.2	NM_002873
CHEK1	Effector kinase CHEK1	11q24.2	NM_001274
CHEK2	Effector kinase 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 papers

Human DNA Repair Genes
Wood RD, Mitchell M, Sgouros JG, Lindahl T, Science. 291, 1284 (2001)

Human DNA Repair Genes
Wood RD, Mitchell M, Lindahl T, Mutation Res. 577, 275 (2005)

DNA Repair and Mutagenesis, Second Edition (2006) (ASM Press, Washington, DC)
Friedberg EC, Walker GC, Siede W, Wood RD, Schulz RA, Ellenberger T (2006)

DNA Polymerases and Cancer
Lange SS, Takata K, Wood RD, Nature Reviews Cancer, 11, 96 (2011)

Human DNA Repair Genes
A. Ronen, B. W. Glickman, Environ. Mol. Mutagen. 37, 241 (2001)

A phylogenomic study of DNA repair genes, proteins, and processes
J. A. Eisen, P. C. Hanawalt, Mutat. Res. DNA Repair. 435, 171 (1999)

Conserved domains in DNA repair proteins and evolution of repair systems
L. Aravind, D. R. Walker, E. V. Koonin, Nucleic Acids Res. 27, 1223 (1999)

Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas
T.A. Knijnenburg, L. Wang, M.T. Zimmermann, N. Chambwe, G.F. Gao, A.D. Cherniack, H. Fan, H. Shen, G.P. Way, C.S. Greene, et al., Cell Rep., 23, 239 (2018)