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 on Tuesday 15th April 2014

Base excision repair (BER)

Direct reversal of damage

Repair of DNA-topoisomerase 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

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

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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
 

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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 (C2ORF13) Accessory factor for DNA end-joining 2p13.3 NM_173545
 

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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
 
Direct reversal of damage

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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-topoisomerase crosslinks

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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
       
Mismatch excision repair (MMR)

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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 7p22.1 NM_000535
MSH4 MutS homologs specialized for meiosis

MSH4, MSH5

1p31.1 NM_002440
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)

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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
DDB1 Complex defective in XP group E

DDB1, DDB2

11q12.2 NM_001923
DDB2 (XPE) 11p11.2 NM_000107
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

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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

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

ERCC8, ERCC6, UV-sensitive syndrome

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

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RAD51 Homologous pairing 15q15.1 NM_002875
RAD51B Rad51 homolog 14q24.1 NM_002877
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 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
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

MUS81, EME1, EME2

11q13.1 NM_025128
EME1 (MMS4L) 17q21.33 NM_152463
EME2 16p13.3 NM_001010865
GIYD1 (SLX1A) subunit of SLX1-SLX4 structure-specific nuclease, two identical tandem genes in the human genome 16p11.2 NM_001014999
GIYD2 (SLX1B) 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

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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
BTBD12 (SLX4) (FANCP) nuclease subunit/scaffold BTBD12 (SLX4) FANCP 16p13.3 NM_032444
FAAP20 (C1orf86) FANCA - associated 1p36.33 NM_182533.2
FAAP24 (C19orf40) FAAP24 19q13.11 NM_152266
       
Non-homologous end-joining

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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

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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)

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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 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 Sensitivity to ionizing radiation 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) DNA crosslink repair? 4p16.3 NM_181808
 
Editing and processing nucleases

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FEN1 (DNase IV) 5' nuclease 11q12.2 NM_004111
FAN1 (MTMR15) 5' nuclease interacting with FANCD2 15q13.2 NM_014967
TREX1 (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
SPO11 endonuclease 20q13.32 NM_012444
ENDOV incision 3' of hypoxanthine and uracil in DNA and inosine in RNA 17q25.3 NM_173627
 
Ubiquitination and modification

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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
SPRTN (c1orf124) Reads ubiquitylation 1q42.12-q43 NM_032018
RNF8 E3 ubiquitin ligase for DSB repair 6p21 NM_152617
RNF4 E3 ubiquitin ligase 4p16.3 NM_001185009
UBE2V2 (MMS2) Ubiquitin-conjugating complex

UBE2V2, UBE2N

8q11.21 NM_003350
UBE2N (UBC13) 12q22 NM_003348
 
Chromatin Structure and Modification

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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 and nuclease 3p26 NM_006515
 
Genes defective in diseases associated with sensitivity to DNA damaging agents

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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
TTDN1 (C7orf11) non-photosensitive form of trichothiodystrophy 7p14 NM_138701
 
Other identified genes with known or suspected DNA repair function

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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
PRPF19 (PSO4) 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
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

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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
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 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 on Tuesday 15th April 2014