NAME: Fanconi Anemia Pathway

ID ApprovedSymbol EntrezGene HGNC UniGeneID Affymetrics HugoName UniGeneName GeneOntologyID ENSG ENSP KEGGID ApprovedSymbol2 PreviousSymbols NCIName Evidence Chromosome Status Reactome_ID Aliases StringSymbol StringName
641 BLM 641 HGNC:1058 Hs.169348 205733_at
Bloom syndrome, RecQ helicase-like Bloom syndrome ENSG00000197299 ENSP00000347232 hsa+641 BLM BLM 15q26.1 Approved BS, RECQL3, RECQ2 BS Bloom syndrome, RecQ helicase-like; Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction
672 BRCA1 672 HGNC:1100 Hs.194143 204531_s_at
211851_x_at
breast cancer 1, early onset Breast cancer 1, early onset GO:0000724 GO:0008630 ENSG00000012048 ENSP00000350283 BRCA1 BRCA1 IDA 17q21-q24 Approved REACT_216 RNF53, BRCC1 RNF53 breast cancer 1, early onset; The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Plays a central role in DNA repair by facilitating cellular response to DNA repair. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage [...]
675 BRCA2 675 HGNC:1101 Hs.34012 208368_s_at
214727_at
breast cancer 2, early onset Breast cancer 2, early onset GO:0006289 ENSG00000139618 ENSP00000369497 hsa+675 BRCA2 FANCD1, FACD, FANCD BRCA2 IMP 13q12-q13 Approved FAD, FAD1, BRCC2 BRCA2 breast cancer 2, early onset; Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation
11144 DMC1 11144 HGNC:2927 Hs.339396 208382_s_at
208386_x_at
DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) ENSG00000100206 ENSP00000216024 DMC1 DMC1 22q13.1 Approved LIM15 LIM15 DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast); May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks (By similarity)
146956 EME1 146956 HGNC:24965 Hs.514330 234464_s_at
234465_at
essential meiotic endonuclease 1 homolog 1 (S. pombe) Essential meiotic endonuclease 1 homolog 1 (S. pombe) ENSG00000154920 ENSP00000339897 hsa+146956 EME1 EME1 17q21.33 Approved FLJ31364, MMS4L EME1 essential meiotic endonuclease 1 homolog 1 (S. pombe); Interacts with MUS81 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'- flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks
197342 EME2 197342 HGNC:27289 Hs.7247 1556024_at
1569867_at
1569868_s_at
essential meiotic endonuclease 1 homolog 2 (S. pombe) Essential meiotic endonuclease 1 homolog 2 (S. pombe) ENSG00000197774 ENSP00000303779 EME2 EME2 16p13.3 Approved FLJ00151 EME2 essential meiotic endonuclease 1 homolog 2 (S. pombe); Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures
2072 ERCC4 2072 HGNC:3436 Hs.660606 210158_at
235215_at
excision repair cross-complementing rodent repair deficiency, complementation group 4 Excision repair cross-complementing rodent repair deficiency, complementation group 4 GO:0000718 GO:0000724 GO:0006295 GO:0006296 ENSG00000175595 ENSP00000310520 hsa+2072 ERCC4 XPF ERCC4 EXP IMP 16p13.3 Approved RAD1 XPF excision repair cross-complementing rodent repair deficiency, complementation group 4; Structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link
4361 MRE11A 4361 HGNC:7230 Hs.192649 205395_s_at
211334_at
242456_at
MRE11 meiotic recombination 11 homolog A (S. cerevisiae) MRE11 meiotic recombination 11 homolog A (S. cerevisiae) ENSG00000020922 ENSP00000325863 hsa+4361 MRE11A MRE11 MRE11A 11q21 Approved ATLD MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae); Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA li [...]
80198 MUS81 80198 HGNC:29814 Hs.288798 218463_s_at
230870_at
MUS81 endonuclease homolog (S. cerevisiae) MUS81 endonuclease homolog (S. cerevisiae) ENSG00000172732 ENSP00000307853 hsa+80198 MUS81 MUS81 11q13 Approved FLJ44872 MUS81 MUS81 endonuclease homolog (S. cerevisiae); Interacts with EME1 and EME2 to form a DNA structure- specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication forks
4683 NBN 4683 HGNC:7652 Hs.492208 202905_x_at
202906_s_at
202907_s_at
217299_s_at
240510_at
nibrin Nibrin ENSG00000104320 ENSP00000265433 hsa+4683 NBN NBS, NBS1 NBN 8q21-q24 Approved ATV, AT-V2, AT-V1 NBN nibrin; Component of the MRE11/RAD50/NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recru [...]
5424 POLD1 5424 HGNC:9175 Hs.279413 203422_at
polymerase (DNA directed), delta 1, catalytic subunit 125kDa Polymerase (DNA directed), delta 1, catalytic subunit 125kDa GO:0006297 ENSG00000062822 ENSP00000262266 hsa+5424 POLD1 POLD POLD1 EXP 19q13.3 Approved CDC2 POLD polymerase (DNA directed), delta 1, catalytic subunit 125kDa; Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that degrades single stranded DNA in the 3'- to 5'-direction. Required with its accessory proteins (proliferating cell nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex
5425 POLD2 5425 HGNC:9176 Hs.306791 201115_at
polymerase (DNA directed), delta 2, regulatory subunit 50kDa Polymerase (DNA directed), delta 2, regulatory subunit 50kDa GO:0006297 ENSG00000106628 ENSP00000379148 hsa+5425 POLD2 POLD2 EXP 7 Approved POLD2 polymerase (DNA directed), delta 2, regulatory subunit 50kDa; The function of the small subunit is not yet clear
10714 POLD3 10714 HGNC:20932 Hs.82502 212836_at
239816_at
polymerase (DNA-directed), delta 3, accessory subunit Polymerase (DNA-directed), delta 3, accessory subunit GO:0006297 ENSG00000077514 ENSP00000263681 hsa+10714 POLD3 POLD3 EXP 11q14 Approved P66, KIAA0039, P68 POLD3 polymerase (DNA-directed), delta 3, accessory subunit; Required for optimal DNA polymerase delta activity
57804 POLD4 57804 HGNC:14106 Hs.523829 202996_at
polymerase (DNA-directed), delta 4 Polymerase (DNA-directed), delta 4 GO:0006297 ENSG00000175482 ENSP00000311368 hsa+57804 POLD4 POLD4 EXP 11q13 Approved p12, POLDS POLD4 polymerase (DNA-directed), delta 4; Required for optimal DNA polymerase delta activity. May contribute to PCNA-dependent activity of DNA polymerase delta
10111 RAD50 10111 HGNC:9816 Hs.655835 208393_s_at
209349_at
RAD50 homolog (S. cerevisiae) RAD50 homolog (S. cerevisiae) ENSG00000113522 ENSP00000265335 hsa+10111 RAD50 RAD50 5q23-q31 Approved hRad50, RAD50-2 RAD50 RAD50 homolog (S. cerevisiae); Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the n [...]
5888 RAD51 5888 HGNC:9817 Hs.631709 205023_at
205024_s_at
RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) ENSG00000051180 ENSP00000267868 hsa+5888 RAD51 RAD51A, RECA RAD51 15q15.1 Approved HsRad51, HsT16930, BRCC5 RAD51 RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae); May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. Binds to single and double stranded DNA and exhibits DNA-dependent ATPase activity. Underwinds duplex DNA and forms helical nucleoprotein filaments
5889 RAD51C 5889 HGNC:9820 Hs.412587 206066_s_at
209849_s_at
RAD51 homolog C (S. cerevisiae) RAD51 homolog C (S. cerevisiae) ENSG00000108384 ENSP00000336701 hsa+5889 RAD51C RAD51C 17q25.1 Approved RAD51L2 RAD51C RAD51 homolog C (S. cerevisiae); Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. The RAD51B-RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA
5890 RAD51L1 5890 HGNC:9822 Hs.172587 RAD51-like 1 (S. cerevisiae) RAD51-like 1 (S. cerevisiae) ENSG00000182185 ENSP00000385485 hsa+5890 RAD51L1 RAD51B RAD51L1 14q23-q24.2 Approved REC2, hREC2, R51H2 REC2 RAD51-like 1 (S. cerevisiae); Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. The RAD51B- RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single- stranded gaps in duplex DNA and specifically to nicks in duplex DNA
5892 RAD51L3 5892 HGNC:9823 Hs.631757 RAD51-like 3 (S. cerevisiae) RAD51-like 3 (S. cerevisiae) ENSG00000185379 ENSP00000378090 hsa+5892 RAD51L3 RAD51D RAD51L3 17q11 Approved R51H3, Trad, HsTRAD Trad RAD51-like 3 (S. cerevisiae); Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA
5893 RAD52 5893 HGNC:9824 Hs.709202 205647_at
210630_s_at
211904_x_at
236880_at
RAD52 homolog (S. cerevisiae) RAD52 homolog (S. cerevisiae) ENSG00000002016 ENSP00000351284 hsa+5893 RAD52 RAD52 12p13-p12.2 Approved RAD52 RAD52 homolog (S. cerevisiae); Involved in double-stranded break repair. Plays a central role in genetic recombination and DNA repair by promoting the annealing of complementary single-stranded DNA and by stimulation of the RAD51 recombinase
25788 RAD54B 25788 HGNC:17228 Hs.30561 Hs.710768 219494_at
220549_at
RAD54 homolog B (S. cerevisiae) RAD54 homolog B (S. cerevisiae) ENSG00000197275 ENSP00000336606 hsa+25788 RAD54B RAD54B 8q22.1 Approved FSBP, RDH54 RAD54B RAD54 homolog B (S. cerevisiae); Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group
8438 RAD54L 8438 HGNC:9826 Hs.709252 204558_at
RAD54-like (S. cerevisiae) RAD54-like (S. cerevisiae) ENSG00000085999 ENSP00000361043 hsa+8438 RAD54L RAD54L 1p32 Approved hHR54, hRAD54, RAD54A RAD54L RAD54-like (S. cerevisiae); Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52) pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and telomere capping in mammalian cells
5932 RBBP8 5932 HGNC:9891 Hs.546282 203344_s_at
retinoblastoma binding protein 8 Retinoblastoma binding protein 8 ENSG00000101773 ENSP00000323050 RBBP8 RBBP8 18q11.2 Approved CTIP, RIM RBBP8 retinoblastoma binding protein 8; May modulate the functions ascribed to BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control
6117 RPA1 6117 HGNC:10289 Hs.461925 201528_at
201529_s_at
236675_at
replication protein A1, 70kDa Replication protein A1, 70kDa GO:0000718 GO:0006297 ENSG00000132383 ENSP00000254719 hsa+6117 RPA1 RPA1 EXP 17p13.3 Approved REPA1, RPA70, HSSB, RF-A, RP-A MST075 replication protein A1, 70kDa; Plays an essential role in several cellular processes in DNA metabolism including replication, recombination and DNA repair. Binds and subsequently stabilizes single-stranded DNA intermediates and thus prevents complementary DNA from reannealing
6118 RPA2 6118 HGNC:10290 Hs.79411 201756_at
replication protein A2, 32kDa Replication protein A2, 32kDa GO:0000718 GO:0006297 ENSG00000117748 ENSP00000363021 hsa+6118 RPA2 RPA2 EXP 1p35 Approved RPA2 replication protein A2, 32kDa; Required for DNA recombination, repair and replication. The activity of RP-A is mediated by single-stranded DNA binding and protein interactions
6119 RPA3 6119 HGNC:10291 Hs.487540 209507_at
replication protein A3, 14kDa Replication protein A3, 14kDa GO:0000718 GO:0006297 ENSG00000106399 ENSP00000223129 hsa+6119 RPA3 RPA3 EXP 7 Approved REPA3 RPA3 replication protein A3, 14kDa; Required for DNA recombination, repair and replication. The activity of RP-A is mediated by single-stranded DNA binding and protein interactions
29935 RPA4 29935 HGNC:30305 Hs.659349 221143_at
replication protein A4, 34kDa Replication protein A4, 34kDa ENSG00000204086 ENSP00000362131 hsa+29935 RPA4 RPA4 Xq21 Approved HSU24186 RPA4 replication protein A4, 34kDa; Absolutely required for simian virus 40 DNA replication in vitro. It participates in a very early step in initiation. RP-A is a single-stranded DNA-binding protein (By similarity)
7979 SHFM1 7979 HGNC:10845 Hs.489201 202276_at
split hand/foot malformation (ectrodactyly) type 1 Split hand/foot malformation (ectrodactyly) type 1 ENSG00000127922 ENSP00000248566 hsa+7979 SHFM1 SHFD1 SHFM1 7q21.3 Approved DSS1, Shfdg1, ECD, SEM1, SHSF1 SHFM1 split hand/foot malformation (ectrodactyly) type 1; Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis
6742 SSBP1 6742 HGNC:11317 Hs.490394 1562442_a_at
202591_s_at
214060_at
single-stranded DNA binding protein 1 Single-stranded DNA binding protein 1 ENSG00000106028 ENSP00000265304 hsa+6742 SSBP1 SSBP1 7q34 Approved SSBP SSBP1 single-stranded DNA binding protein 1; This protein binds preferentially and cooperatively to ss-DNA. Probably involved in mitochondrial DNA replication
7156 TOP3A 7156 HGNC:11992 Hs.592115 204946_s_at
214299_at
214300_s_at
topoisomerase (DNA) III alpha Topoisomerase (DNA) III alpha ENSG00000177302 ENSP00000321636 hsa+7156 TOP3A TOP3 TOP3A 17p12-p11.2 Approved TOP3 topoisomerase (DNA) III alpha; Reduces the number of supercoils in a highly negatively supercoiled DNA. Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells
8940 TOP3B 8940 HGNC:11993 Hs.436401 213660_s_at
215781_s_at
topoisomerase (DNA) III beta Topoisomerase (DNA) III beta ENSG00000100038 ENSP00000349705 hsa+8940 TOP3B TOP3B 22q11.22 Approved TOP3B topoisomerase (DNA) III beta; Possesses negatively supercoiled DNA relaxing activity
7334 UBE2N 7334 HGNC:12492 Hs.524630 201523_x_at
201524_x_at
212751_at
ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast) Ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast) GO:0000724 ENSG00000177889 ENSP00000316176 UBE2N UBE2N IMP 12q22 Approved UbcH-ben, UBC13, MGC8489 UBE2N ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast); The UBE2V2/UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through 'Lys- 63'. This type of poly-ubiquitination does not lead to protein degradation by the proteasome. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Acts together with the E3 ligases, HLTF and SHPRH, in the 'Lys-63'-linked [...]
7516 XRCC2 7516 HGNC:12829 Hs.647093 207598_x_at
X-ray repair complementing defective repair in Chinese hamster cells 2 X-ray repair complementing defective repair in Chinese hamster cells 2 ENSG00000196584 ENSP00000352271 hsa+7516 XRCC2 XRCC2 7q36 Approved XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA
7517 XRCC3 7517 HGNC:12830 Hs.714973 216299_s_at
X-ray repair complementing defective repair in Chinese hamster cells 3 X-ray repair complementing defective repair in Chinese hamster cells 3 ENSG00000126215 ENSP00000343392 hsa+7517 XRCC3 XRCC3 14q32.3 Approved XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions
34 genes found.

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ID ApprovedSymbol EntrezGene HGNC
UniGeneID HugoName UniGeneName GeneOntologyID
ENSG ENSP KEGGID ApprovedSymbol2
PreviousSymbols NCIName Evidence Chromosome
Status Reactome_ID Aliases StringSymbol
StringName Affymetrics


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