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 |
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| 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 |
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