LOCUS       NP_001018125            1451 aa            linear   PRI 10-FEB-2025
DEFINITION  Fanconi anemia group D2 protein isoform b [Homo sapiens].
ACCESSION   NP_001018125
VERSION     NP_001018125.1
DBSOURCE    REFSEQ: accession NM_001018115.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1451)
  AUTHORS   Blaize,J.L., Garzon,J.L.N. and Howlett,N.G.
  TITLE     FANCD2 genome binding is nonrandom and is enriched at large
            transcriptionally active neural genes prone to copy number
            variation
  JOURNAL   Funct Integr Genomics 24 (5), 180 (2024)
   PUBMED   39365306
  REMARK    GeneRIF: FANCD2 genome binding is nonrandom and is enriched at
            large transcriptionally active neural genes prone to copy number
            variation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1451)
  AUTHORS   Alcon,P., Kaczmarczyk,A.P., Ray,K.K., Liolios,T., Guilbaud,G.,
            Sijacki,T., Shen,Y., McLaughlin,S.H., Sale,J.E., Knipscheer,P.,
            Rueda,D.S. and Passmore,L.A.
  TITLE     FANCD2-FANCI surveys DNA and recognizes double- to single-stranded
            junctions
  JOURNAL   Nature 632 (8027), 1165-1173 (2024)
   PUBMED   39085614
  REMARK    GeneRIF: FANCD2-FANCI surveys DNA and recognizes double- to
            single-stranded junctions.
REFERENCE   3  (residues 1 to 1451)
  AUTHORS   Morita,S., Fujikane,R., Uechi,Y., Matsuura,T. and Hidaka,M.
  TITLE     FANCD2 counteracts O6-methylguanine-induced mismatch
            repair-dependent apoptosis
  JOURNAL   Mol Biol Rep 51 (1), 745 (2024)
   PUBMED   38874758
  REMARK    GeneRIF: FANCD2 counteracts O[6]-methylguanine-induced mismatch
            repair-dependent apoptosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1451)
  AUTHORS   Zhao,Z., Wang,R., Wang,R., Song,J., Ma,F., Pan,H., Gao,C., Wang,D.,
            Chen,X. and Fan,X.
  TITLE     Pancancer analysis of the prognostic and immunological role of
            FANCD2: a potential target for carcinogenesis and survival
  JOURNAL   BMC Med Genomics 17 (1), 69 (2024)
   PUBMED   38443946
  REMARK    GeneRIF: Pancancer analysis of the prognostic and immunological
            role of FANCD2: a potential target for carcinogenesis and survival.
            Erratum:[BMC Med Genomics. 2024 May 14;17(1):129. doi:
            10.1186/s12920-024-01896-6.. PMID: 38745241]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1451)
  AUTHORS   Garcia-Higuera,I., Taniguchi,T., Ganesan,S., Meyn,M.S., Timmers,C.,
            Hejna,J., Grompe,M. and D'Andrea,A.D.
  TITLE     Interaction of the Fanconi anemia proteins and BRCA1 in a common
            pathway
  JOURNAL   Mol Cell 7 (2), 249-262 (2001)
   PUBMED   11239454
REFERENCE   6  (residues 1 to 1451)
  AUTHORS   Timmers,C., Taniguchi,T., Hejna,J., Reifsteck,C., Lucas,L.,
            Bruun,D., Thayer,M., Cox,B., Olson,S., D'Andrea,A.D., Moses,R. and
            Grompe,M.
  TITLE     Positional cloning of a novel Fanconi anemia gene, FANCD2
  JOURNAL   Mol Cell 7 (2), 241-248 (2001)
   PUBMED   11239453
REFERENCE   7  (residues 1 to 1451)
  AUTHORS   Hejna,J.A., Timmers,C.D., Reifsteck,C., Bruun,D.A., Lucas,L.W.,
            Jakobs,P.M., Toth-Fejel,S., Unsworth,N., Clemens,S.L., Garcia,D.K.,
            Naylor,S.L., Thayer,M.J., Olson,S.B., Grompe,M. and Moses,R.E.
  TITLE     Localization of the Fanconi anemia complementation group D gene to
            a 200-kb region on chromosome 3p25.3
  JOURNAL   Am J Hum Genet 66 (5), 1540-1551 (2000)
   PUBMED   10762542
REFERENCE   8  (residues 1 to 1451)
  AUTHORS   Whitney,M., Thayer,M., Reifsteck,C., Olson,S., Smith,L.,
            Jakobs,P.M., Leach,R., Naylor,S., Joenje,H. and Grompe,M.
  TITLE     Microcell mediated chromosome transfer maps the Fanconi anaemia
            group D gene to chromosome 3p
  JOURNAL   Nat Genet 11 (3), 341-343 (1995)
   PUBMED   7581463
REFERENCE   9  (residues 1 to 1451)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (residues 1 to 1451)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC034193.5.
            
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group
            D2. This protein is monoubiquinated in response to DNA damage,
            resulting in its localization to nuclear foci with other proteins
            (BRCA1 AND BRCA2) involved in homology-directed DNA repair.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, compared to variant 1. It encodes isoform
            b which has a shorter and distinct C-terminus, compared to isoform
            a. Variants 2 and 3 encode the same isoform.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF340183.1, SRR14038196.2278805.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000675286.1/ ENSP00000502379.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     Protein         1..1451
                     /product="Fanconi anemia group D2 protein isoform b"
                     /note="fanconi anemia group D2 protein; Fanconi anemia
                     complementation group D2"
                     /calculated_mol_wt=163998
     Region          1..291
                     /region_name="Interaction with FANCE"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Region          1..37
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            8
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Region          35..1415
                     /region_name="FancD2"
                     /note="Fanconi anaemia protein FancD2 nuclease; pfam14631"
                     /db_xref="CDD:464225"
     Site            222
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:12086603; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Region          248..359
                     /region_name="Interaction with BRCA2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            592
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            594
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            717
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Region          868..906
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            1257
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Region          1396..1451
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            1401
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM. /evidence=ECO:0000305;
                     propagated from UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            1404
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by ATM.
                     /evidence=ECO:0000269|PubMed:12086603; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            1412
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            1423
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            1426
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     Site            1435
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BXW9.2)"
     CDS             1..1451
                     /gene="FANCD2"
                     /gene_synonym="FA-D2; FA4; FACD; FAD; FAD2; FANCD"
                     /coded_by="NM_001018115.3:71..4426"
                     /note="isoform b is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS33696.1"
                     /db_xref="GeneID:2177"
                     /db_xref="HGNC:HGNC:3585"
                     /db_xref="MIM:613984"
ORIGIN      
        1 mvskrrlsks edkeslteda sktrkqplsk ktkkshiane veendsifvk llkisgiilk
       61 tgesqnqlav dqiafqkklf qtlrrhpsyp kiieefvsgl esyiededsf rncllscerl
      121 qdeeasmgas ysksliklll gidilqpaii ktlfeklpey ffenknsdei niprlivsql
      181 kwldrvvdgk dlttkimqli siapenlqhd iitslpeilg dsqhadvgke lsdllients
      241 ltvpildvls slrldpnfll kvrqlvmdkl ssirledlpv iikfilhsvt amdtlevise
      301 lrekldlqhc vlpsrlqasq vklkskgras ssgnqessgq sciillfdvi ksairyekti
      361 seawikaien tasvsehkvf dlvmlfiiys tntqtkkyid rvlrnkirsg ciqeqllqst
      421 fsvhylvlkd mcssilslaq sllhsldqsi isfgsllyky afkffdtycq qevvgalvth
      481 icsgneaevd taldvllelv vlnpsammmn avfvkgildy ldnispqqir klfyvlstla
      541 fskqneassh iqddmhlvir kqlsstvfky kligiigavt magimaadrs espsltqera
      601 nlsdeqctqv tsllqlvhsc seqspqasal yydefanliq hekldpkale wvghticndf
      661 qdafvvdscv vpegdfpfpv kalygleeyd tqdgiainll pllfsqdfak dggpvtsqes
      721 gqklvsplcl apyfrllrlc verqhngnle eidglldcpi fltdlepgek lesmsakers
      781 fmcslifltl nwfreivnaf cqetspemkg kvltrlkhiv elqiilekyl avtpdyvppl
      841 gnfdvetldi tphtvtaisa kirkkgkier kqktdgskts ssdtlseekn secdptpshr
      901 gqlnkeftgk eektslllhn shaffreldi evfsilhcgl vtkfildtem hteatevvql
      961 gppellflle dlsqklesml tppiarrvpf lknkgsrnig fshlqqrsaq eivhcvfqll
     1021 tpmcnhleni hnyfqclaae nhgvvdgpgv kvqeyhimss cyqrllqifh glfawsgfsq
     1081 penqnllysa lhvlssrlkq gehsqpleel lsqsvhylqn fhqsipsfqc alylirllmv
     1141 ilekstasaq nkekiaslar qflcrvwpsg dkeksnisnd qlhallciyl ehtesilkai
     1201 eeiagvgvpe linspkdass stfptltrht fvvffrvmma elektvkkie pgtaadsqqi
     1261 heekllywnm avrdfsilin likvfdshpv lhvclkygrl fveaflkqcm plldfsfrkh
     1321 redvlsllet fqldtrllhh lcghskihqd trltqhvpll kktlellvcr vkamltlnnc
     1381 reafwlgnlk nrdlqgeeik sqnsqestad eseddmssqa skskatedge edevsageke
     1441 qdsdesydds d
//
