Human DNA repair genes

Gene Name (synonyms)
linked to the GeneCards UK Mirror at Cancer Research UK

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

Gene Name (synonyms) linked to the GeneCards UK Mirror at Cancer Research UK Some gene products act in more than one pathway, but each is listed only once below	Activity linked to OMIM	Chromosome location linked to NCBI MapView	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

Other BER factors		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

Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA		Top of Page
PARP1 (ADPRT)	Protects strand interruptions	1q42.12	NM_001618
PARP2 (ADPRTL2)	PARP-like enzyme	14q11.2	NM_005484

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 covalently bound TOP1-DNA complexes	14q32.11	NM_018319

Mismatch excision repair (MMR)	Top of Page
MSH2	Mismatch (MSH2-MSH6) and loop (MSH2-MSH3) recognition MSH2, MSH3, MSH6	2p21	NM_000251
MSH3		5q14.1	NM_002439
MSH6		2p16.3	NM_000179
MLH1	MutL homologs, forming heterodimer MLH1, PMS2	3p22.3	NM_000249
PMS2	MutL homologs, forming heterodimer MLH1, PMS2	7p22.1	NM_000535
MSH4	MutS homologs specialized for meiosis MSH4, MSH5	1p31.1	NM_002440
MSH5	MutS homologs specialized for meiosis MSH4, MSH5	6p21.33	NM_002441
MLH3	MutL homologs of unknown function MLH3, PMS1, PMS2L3	14q24.3	NM_014381
PMS1		2q32.2	NM_000534
PMS2L3		7q11.23	NM_005395

Nucleotide excision repair (NER)	(XP = xeroderma pigmentosum)	Top of Page
XPC	Binds DNA distortions XPC, RAD23B, CETN2	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
RPA1	Binds DNA in preincision complex RPA1, RPA2, RPA3	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
CDK7	Kinase subunits of TFIIH CDK7, CCNH, MNAT1	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
NER-related	Top of Page
CKN1 (CSA)	Cockayne syndrome; Needed for transcription-coupled NER CKN1, ERCC6, XAB2	5q12.1	NM_000082
ERCC6 (CSB)		10q11.23	NM_000124
XAB2 (HCNP)		19p13.2	NM_020196
DDB1	Complex defective in XP group E DDB1, DDB2	11q12.2	NM_001923
DDB2	Complex defective in XP group E DDB1, DDB2	11p11.2	NM_000107
MMS19L (MMS19)	Transcription and NER	10q24.1	NM_022362

Homologous recombination	Top of Page
RAD51	Homologous pairing	15q15.1	NM_002875
RAD51L1 (RAD51B)	Rad51 homolog	14q24.1	NM_002877
RAD51C	Rad51 homolog	17q23.2	NM_002876
RAD51L3 (RAD51D)	Rad51 homolog	17q12	NM_002878
DMC1	Rad51 homolog, meiosis	22q13.1	NM_007068
XRCC2	DNA break and crosslink repair XRCC2, XRCC3	7q36.1	NM_005431
XRCC3	DNA break and crosslink repair XRCC2, XRCC3	14q32.33	NM_005432
RAD52	Accessory factors for recombination RAD52, RAD54L, RAD54B	12p13.33	NM_002879
RAD54L		1p34.1	NM_003579
RAD54B		8q22.1	NM_012415
BRCA1	Accessory factor for transcription and recombination, E3 Ubiquitin ligase	17q21.31	NM_007295
BRCA2 (FANCD1)	Cooperation with RAD51, essential function	13q13.1	NM_000059
SHFM1 (DSS1)	BRCA2 associated	7q21.3	NM_006304
RAD50	ATPase in complex with MRE11A, NBS1	5q23.3	NM_005732
MRE11A	3' exonuclease	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 MUS81, EME1, EME2	11q13.1	NM_025128
EME1 (MMS4L)		17q21.33	NM_152463
EME2		16p13.3	NM_001010865
GIYD1 (SLX1)	Nuclease cleaving Holliday junctions GIYD1 (SLX1), BTBD12 (SLX4)	16p11.2	NM_001014999
BTBD12 (SLX4)		16p13.3	NM_032444
GEN1	Nuclease cleaving Holliday junctions	2p24.2	NM_182625

Non-homologous end-joining	Top of Page
G22P1 (Ku70)	DNA end binding Ku70, Ku80	22q13.2	NM_001469
XRCC5 (Ku80)	DNA end binding Ku70, Ku80	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)	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

DNA polymerases (catalytic subunits)	Top of Page
POLB	BER in nuclear DNA	8p11.21	NM_002690
POLG	BER in mitochondrial DNA	15q26.1	NM_002693
POLD1	NER and MMR POLD1, POLE1	19q13.33	NM_002691
POLE	NER and MMR POLD1, POLE1	12q24.33	NM_006231
PCNA	Sliding clamp for pol delta and pol epsilon	20p12.3	NM_002592
REV3L (POLZ)	DNA pol zeta catalytic subunit, essential function	6q21	NM_002912
MAD2L2 (REV7)	DNA pol zeta subunit	1p36.22	NM_006341
REV1L (REV1)	dCMP transferase	2q11.2	NM_016316
POLH	xeroderma pigmentosum (XP) variant	6p21.1	NM_006502
POLI (RAD30B)	Lesion bypass	18q21.2	NM_007195
POLQ	DNA crosslink repair	3q13.33	NM_006596
POLK (DINB1)	Lesion bypass	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)	DNA crosslink repair?	4p16.3	NM_181808

Editing and processing nucleases	Top of Page
FEN1 (DNase IV)	5' nuclease	11q12.2	NM_004111
MTMR15 (FAN1)	5' nuclease interacting with FANCD2	15q13.2	NM_014967
TREX (DNase III)	3' exonuclease	3p21.31	NM_033629
TREX2	3' exonuclease	Xq28	NM_007205
EXO1 (HEX1)	5' exonuclease	1q43	NM_003686
APTX (aprataxin)	Processing of DNA single-strand interruptions	9p21.1	NM_175073
TTRAP (TDP2)	5' tyrosyl-DNA phosphodiesterase	6p22.3-p22.1	NM_016614
SPO11	endonuclease	20q13.32	NM_012444
FLJ35220 (ENDOV)	incision 3' of hypoxanthine and uracil	17q25.3	NM_173627

Rad6 pathway	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
UBE2V2 (MMS2)	Ubiquitin-conjugating complex UBE2V2, UBE2N	8q11.21	NM_003350
UBE2N (UBC13)	Ubiquitin-conjugating complex UBE2V2, UBE2N	12q22	NM_003348

Chromatin Structure	Top of Page
H2AFX (H2AX)	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	3p26	NM_006515

Genes defective in diseases associated with sensitivity to DNA damaging agents	Top of Page
BLM	Bloom syndrome helicase	15q26.1	NM_000057
WRN	Werner syndrome helicase / 3' - exonuclease	8p12	NM_000553
RECQL4	Rothmund-Thompson syndrome	8q24.3	NM_004260
ATM	ataxia telangiectasia	11q22.3	NM_000051
Fanconi anemia	Involved in tolerance or repair of DNA crosslinks		Top of Page
FANCA	FANCA	16q24.3	NM_000135
FANCB	FANCB	Xp22.31	NM_152633
FANCC	FANCC	9q22.32	NM_000136
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
FAAP24 (C19orf40)	FAAP24	19q13.11	NM_152266

Other identified genes with known or suspected DNA repair function	Top of Page
DCLRE1A (SNM1)	DNA crosslink repair	10q25.3	NM_014881
DCLRE1B (SNM1B)	Related to SNM1	1p13.2	NM_022836
RPA4	Similar to RPA2	Xp21.33	NM_013347
RECQL (RECQ1)	DNA helicase	12p12.1	NM_002907
RECQL5	DNA helicase	17q25.1	NM_001003715
HELQ (HEL308)	DNA helicase	4q21.23	NM_133636
RDM1 (RAD52B)	Similar to RAD52	17q12	NM_145654
OBFC2B (SSB1)	Single-stranded DNA binding protein	12q13.2	NM_024068

Other conserved DNA damage response genes	Top of Page
ATR	ATM- and PI-3K-like essential kinase	3q23	NM_001184
MDC1	Mediator of DNA damage checkpoint	6p21.3	NM_014641
RAD1	subunits of PCNA-like sensor of damaged DNA RAD1, RAD9, HUS1	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 CHEK1, CHEK2	11q24.2	NM_001274
CHEK2	Effector kinases CHEK1, CHEK2	22q12.1	NM_007194
TP53	Regulation of the cell cycle	17p13.1	NM_000546
ATRIP	ATR-interacting protein	3p21.31	NM_130384
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
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Human DNA Repair Genes

This is the supplement to the review by Wood RD, Mitchell M, & Lindahl T published in Mutation Research, 2005. It is an update of the original supplement to a review published in Science, 2001.

Related Publications:

This is the supplement to the review by Wood RD, Mitchell M, & Lindahl T published in Mutation Research, 2005.
It is an update of the original supplement to a review published in Science, 2001.