This table was last modified by R. Wood and M. Lowery on Wednesday 10th June 2020
Gene Name (synonyms)
linked to GeneCards
Some gene products act in more than one pathway, but each is listed only once below
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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 |
Accessory factor for DNA end-joining |
2p13.3 |
NM_173545 |
| HMCES |
Reacts with AP sites |
3q21.3 |
NM_020187 |
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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 |
| PARG |
Poly(ADP-ribose) glycohydrolase |
10q11.23 |
NM_003631 |
| PARPBP |
Binds PARP and modulates recombination |
12q23.2 |
NM_001319988 |
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| 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 |
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| Repair of DNA-protein 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 |
| SPRTN (Spartan) |
Reads ubiquitylation |
1q42.12-q43 |
NM_032018 |
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| 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 |
| PMS2P3 (PMS2L3) |
7q11.23 |
NM_005395 |
| HFM1 |
Helicase in meiotic-crossover formation |
1p22.2 |
NM_001017975 |
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| 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 |
| GTF2E2 |
TFIIE subunit, mutated in TTD |
8p12 |
NM_002095 |
| CDK7 |
Kinase subunits of TFIIH CDK7, CCNH, MNAT1 |
5q13.2 |
NM_001799 |
| CCNH |
5q14.3 |
NM_001239 |
| MNAT1 |
14q23.1 |
NM_002431 |
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| 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, UVSSA |
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 |
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| 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 |
| 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 SWSAP1, ZSWIM7, SPIDR, PDS5B |
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 XRCC2, XRCC3 |
7q36.1 |
NM_005431 |
| XRCC3 |
14q32.33 |
NM_005432 |
| RAD52 |
Accessory factors for recombination RAD52, RAD54L, RAD54B |
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 SMC5, SMC6 |
9q21.12 | NM_015110 |
| SMC6 |
2p24.2 |
NM_001142286 |
| SHLD1 |
Suppressing end-resection SHLD1, SHLD2 , SHLD3 |
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
MUS81, EME1, EME2 |
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 SLX1A , SLX1B |
16p11.2 |
NM_001014999 |
| SLX1B (GIYD2) |
16p11.2 |
NM_024044 |
| GEN1 |
Nuclease cleaving Holliday junctions |
2p24.2 |
NM_182625 |
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| 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 |
| 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 |
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| 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 |
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| 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 |
| 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 |
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| DNA polymerases |
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| POLA1 |
DNA synthesis at resected ends |
Xp22.1-p21.3 |
NM_001330360 |
| POLB |
BER in nuclear DNA |
8p11.21 |
NM_002690 |
| POLD1 |
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)
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Pol epsilon subunits POLE1, POLE2, POLE3, POLE4 |
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 |
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| 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 |
3' exonuclease
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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 |
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| 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 |
| RNF8 |
E3 ubiquitin ligase for DSB repair |
6p21.2 |
NM_003958 |
| RNF4 |
E3 ubiquitin ligase |
4p16.3 |
NM_001185009 |
| UBE2V2 (MMS2) |
Ubiquitin-conjugating complex UBE2V2, UBE2N |
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 |
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| Chromatin Structure and Modification |
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| 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 |
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| Genes defective in diseases associated with sensitivity to DNA damaging agents |
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| 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 |
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| 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 |
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| 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
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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
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 |
|
- Human DNA repair genes.
A. Ronen, B. W. Glickman, Environ. Mol. Mutagen. 37, 241 (2001) Abstract
- A phylogenomic study of DNA repair genes, proteins, and processes.
J. A. Eisen, P. C. Hanawalt, Mutat. Res. DNA Repair 435, 171 (1999) Abstract
- 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) Abstract
- Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas.
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This table was last modified by R. Wood and M. Lowery on Wednesday 10th June 2020