{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9BXW9","secondaryAccessions":["Q2LA86","Q69YP9","Q6PJN7","Q9BQ06","Q9H9T9"],"uniProtkbId":"FACD2_HUMAN","entryAudit":{"firstPublicDate":"2005-06-07","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-11-26","entryVersion":206,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Fanconi anemia group D2 protein"},"shortNames":[{"value":"Protein FACD2"}]}},"genes":[{"geneName":{"value":"FANCD2"},"synonyms":[{"value":"FACD"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q68Y81"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239453"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12086603"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12239151"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517836"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15115758"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15314022"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15377654"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15454491"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15650050"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15661754"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15671039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19465921"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30335751"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36385258"}],"value":"Required for maintenance of chromosomal stability (PubMed:11239453, PubMed:14517836). Promotes accurate and efficient pairing of homologs during meiosis (PubMed:14517836). Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing (PubMed:15671039, PubMed:15650050, PubMed:30335751, PubMed:36385258). The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA (By similarity). May participate in S phase and G2 phase checkpoint activation upon DNA damage (PubMed:15377654). Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress (PubMed:15454491, PubMed:15661754). Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress (PubMed:15661754, PubMed:19465921). Promotes BRCA2/FANCD1 loading onto damaged chromatin (PubMed:11239454, PubMed:12239151, PubMed:12086603, PubMed:15115758, PubMed:15199141, PubMed:15671039, PubMed:18212739). May also be involved in B-cell immunoglobulin isotype switching"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q68Y81"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12093742"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12649160"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12874027"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15115758"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15199141"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15257300"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15694335"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17412408"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17460694"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18212739"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18469862"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19995904"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603073"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30335751"}],"value":"Homodimer; cannot be ubiquitinated and does not bind DNA (By similarity). Part of a FANCI-FANCD2 heterodimeric complex that binds and scans dsDNA for DNA damage (PubMed:36385258). Interacts directly with FANCE and FANCI (PubMed:12093742, PubMed:12649160, PubMed:17412408, PubMed:17460694). Interacts with USP1 and MEN1 (PubMed:12874027, PubMed:15694335). The ubiquitinated form specifically interacts with BRCA1 and BLM (PubMed:11239454, PubMed:15257300). Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3 (PubMed:15115758, PubMed:15199141, PubMed:18212739). The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage (PubMed:20603015, PubMed:20603016, PubMed:20603073). Interacts with DCLRE1B/Apollo (PubMed:18469862). Interacts with POLN (PubMed:19995904). Interacts with UHRF1 and UHRF2; these interactions promote FANCD2 activation (PubMed:30335751)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"P51587","geneName":"BRCA2","intActId":"EBI-79792"},"numberOfExperiments":16,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"P49716","geneName":"CEBPD","intActId":"EBI-7962058"},"numberOfExperiments":8,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"P00533","geneName":"EGFR","intActId":"EBI-297353"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"Q9NVI1","geneName":"FANCI","intActId":"EBI-1013291"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"Q16658","geneName":"FSCN1","intActId":"EBI-351076"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"O00255","geneName":"MEN1","intActId":"EBI-592789"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"P49959","geneName":"MRE11","intActId":"EBI-396513"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9","intActId":"EBI-359343"},"interactantTwo":{"uniProtKBAccession":"O60934","geneName":"NBN","intActId":"EBI-494844"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXW9-2","intActId":"EBI-596878"},"interactantTwo":{"uniProtKBAccession":"P51587","geneName":"BRCA2","intActId":"EBI-79792"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"value":"Concentrates in nuclear foci during S phase and upon genotoxic stress. At the onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following aphidicolin treatment, targets chromatid gaps and breaks"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12093742"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19465921"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19465922"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30335751"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"2"},"isoformIds":["Q9BXW9-2"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"1"},"isoformIds":["Q9BXW9-1"],"sequenceIds":["VSP_057198"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q9BXW9-3"],"sequenceIds":["VSP_013885","VSP_013886"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q9BXW9-4"],"sequenceIds":["VSP_013883","VSP_013884"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239453"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517836"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15454491"}],"value":"Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14517836"}],"value":"Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone marrow (at protein level)"}],"commentType":"DEVELOPMENTAL STAGE"},{"texts":[{"value":"The C-terminal 24 residues of isoform 2 are required for its function"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q68Y81"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12086603"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12973351"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15694335"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19111657"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603073"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"30335751"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36385258"}],"value":"Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W (isoform 1 and isoform 2) (PubMed:11239454, PubMed:12973351, PubMed:19111657, PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:36385258). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed (PubMed:15694335, PubMed:36385258). Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1, and is mediated by FANCL/PHF9 (PubMed:12973351). Monoubiquitination prevents DNA release from the FANCI-FANCD2 complex (By similarity). FANCD2 is only ubiquitinated in the FANCI-FANCD2 complex and the monoubiquitination of FANCD2 is promoted by phosphorylation of FANCI (By similarity). Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1 (PubMed:12086603, PubMed:15650050)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12086603"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14988723"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15314022"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15650050"}],"value":"Phosphorylated in response to various genotoxic stresses by ATM and/or ATR (PubMed:14988723, PubMed:15314022). Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404 (PubMed:12086603). Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair (PubMed:12086603, PubMed:15650050). In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Fanconi anemia complementation group D2","diseaseAccession":"DI-02763","acronym":"FANCD2","description":"A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.","diseaseCrossReference":{"database":"MIM","id":"227646"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239453"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Less abundant than isoform 2, may be not functional"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 1"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the Fanconi anemia protein FANCD2 family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAB14132.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","resourceUrl":"https://atlasgeneticsoncology.org/gene/103/FAD","ftp":false},{"commentType":"WEB RESOURCE","resourceName":"Fanconi Anemia Mutation Database","resourceUrl":"https://www2.rockefeller.edu/fanconi/genes/jumpd2","ftp":false}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1451,"modifier":"EXACT"}},"description":"Fanconi anemia group D2 protein","featureId":"PRO_0000087168"},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":291,"modifier":"EXACT"}},"description":"Interaction with FANCE"},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":37,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":248,"modifier":"EXACT"},"end":{"value":359,"modifier":"EXACT"}},"description":"Interaction with BRCA2"},{"type":"Region","location":{"start":{"value":868,"modifier":"EXACT"},"end":{"value":906,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1396,"modifier":"EXACT"},"end":{"value":1451,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":8,"modifier":"EXACT"},"end":{"value":22,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":36,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1428,"modifier":"EXACT"},"end":{"value":1451,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":8,"modifier":"EXACT"},"end":{"value":8,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"}]},{"type":"Modified residue","location":{"start":{"value":222,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"Phosphoserine; by ATM","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12086603"}]},{"type":"Modified residue","location":{"start":{"value":592,"modifier":"EXACT"},"end":{"value":592,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17525332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified 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ubiquitin)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11239454"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19111657"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603015"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603016"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20603073"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36385258"}]},{"type":"Alternative sequence","location":{"start":{"value":232,"modifier":"EXACT"},"end":{"value":241,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_013883","alternativeSequence":{"originalSequence":"SDLLIENTSL","alternativeSequences":["RWINPLSSSK"]}},{"type":"Alternative sequence","location":{"start":{"value":242,"modifier":"EXACT"},"end":{"value":1451,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_013884","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":1229,"modifier":"EXACT"},"end":{"value":1249,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_013885","alternativeSequence":{"originalSequence":"HTFVVFFRVMMAELEKTVKKI","alternativeSequences":["FMKRNSSTGTWLFETSVSSST"]}},{"type":"Alternative sequence","location":{"start":{"value":1250,"modifier":"EXACT"},"end":{"value":1451,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_013886","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":1428,"modifier":"EXACT"},"end":{"value":1451,"modifier":"EXACT"}},"description":"in isoform 1","featureId":"VSP_057198","alternativeSequence":{"originalSequence":"DGEEDEVSAGEKEQDSDESYDDSD","alternativeSequences":["VSLQNPPESGTDGCILLIVLSWWSRTLPTYVYCQMLLCPFPFPP"]}},{"type":"Natural variant","location":{"start":{"value":33,"modifier":"EXACT"},"end":{"value":33,"modifier":"EXACT"}},"description":"in dbSNP:rs34691009","featureCrossReferences":[{"database":"dbSNP","id":"rs34691009"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.2"}],"featureId":"VAR_025827","alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":61,"modifier":"EXACT"},"end":{"value":61,"modifier":"EXACT"}},"description":"in dbSNP:rs35110529","featureCrossReferences":[{"database":"dbSNP","id":"rs35110529"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.2"}],"featureId":"VAR_025828","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural 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dbSNP:rs35173688","featureCrossReferences":[{"database":"dbSNP","id":"rs35173688"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.2"}],"featureId":"VAR_025830","alternativeSequence":{"originalSequence":"I","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":193,"modifier":"EXACT"},"end":{"value":193,"modifier":"EXACT"}},"description":"in dbSNP:rs34936017","featureCrossReferences":[{"database":"dbSNP","id":"rs34936017"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.2"}],"featureId":"VAR_025831","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":302,"modifier":"EXACT"},"end":{"value":302,"modifier":"EXACT"}},"description":"in FANCD2; 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