Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2177
Gene name Gene Name - the full gene name approved by the HGNC.
FA complementation group D2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FANCD2
Synonyms (NCBI Gene) Gene synonyms aliases
FA-D2, FA4, FACD, FAD, FAD2, FANCD
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 FAN
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs112832879 G>A Pathogenic Genic downstream transcript variant, splice acceptor variant
rs121917787 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs121917788 C>T Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
rs200118565 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Genic downstream transcript variant, coding sequence variant, synonymous variant
rs201811817 G>A Pathogenic Genic downstream transcript variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016578 hsa-miR-193b-3p Microarray 20304954
MIRT052045 hsa-let-7b-5p CLASH 23622248
MIRT043406 hsa-miR-331-3p CLASH 23622248
MIRT041043 hsa-miR-505-3p CLASH 23622248
MIRT039141 hsa-miR-769-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin NAS 19965384
GO:0000793 Component Condensed chromosome IBA
GO:0000793 Component Condensed chromosome IEA
GO:0005515 Function Protein binding IPI 12874027, 15115758, 17460694, 18212739, 19609304, 20603015, 20603016, 20603073, 20805509, 35384245, 35512704
GO:0005634 Component Nucleus IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613984 3585 ENSG00000144554
Protein
UniProt ID Q9BXW9
Protein name Fanconi anemia group D2 protein (Protein FACD2)
Protein function 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 re
PDB 6VAA , 6VAD , 6VAE , 6VAF , 7AY1 , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV , 7ZF1 , 8A9J , 8A9K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14631 FancD2 1 1415 Fanconi anaemia protein FancD2 nuclease Family
Tissue specificity TISSUE SPECIFICITY: 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
Sequence
MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEENDSIFVKLLKISGIILK
TGESQNQLAVDQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYIEDEDSFRNCLLSCERL
QDEEASMGASYSKSLIKLLLGIDILQPAIIKTLFEKLPEYFFENKNSDEINIPRLIVSQL
KWLDRVVDGKDLTTKIMQLISIAPENLQHDIITSLPEILGDSQHADVGKELSDLLIENTS
LTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPVIIKFILHSVTAMDTLEVISE
LREKLDLQHCVLPSRLQASQVKLKSKGRASSSGNQESSGQSCIILLFDVIKSAIRYEKTI
SEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYIDRVLRNKIRSGCIQEQLLQST
FSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLYKYAFKFFDTYCQQEVVGALVTH
ICSGNEAEVDTALDVLLELVVLNPSAMMMNAVFVKGILDYLDNISPQQIRKLFYVLSTLA
FSKQNEASSHIQDDMHLVIRKQLSSTVFKYKLIGIIGAVTMAGIMAADRSESPSLTQERA
NLSDEQCTQVTSLLQLVHSCSEQSPQASALYYDEFANLIQHEKLDPKALEWVGHTICNDF
QDAFVVDSCVVPEGDFPFPVKALYGLEEYDTQDGIAINLLPLLFSQDFAKDGGPVTSQES
GQKLVSPLCLAPYFRLLRLCVERQHNGNLEEIDGLLDCPIFLTDLEPGEKLESMSAKERS
FMCSLIFLTLNWFREIVNAFCQETSPEMKGKVLTRLKHIVELQIILEKYLAVTPDYVPPL
GNFDVETLDITPHTVTAISAKIRKKGKIERKQKTDGSKTSSSDTLSEEKNSECDPTPSHR
GQLNKEFTGKEEKTSLLLHNSHAFFRELDIEVFSILHCGLVTKFILDTEMHTEATEVVQL
GPPELLFLLEDLSQKLESMLTPPIARRVPFLKNKGSRNIGFSHLQQRSAQEIVHCVFQLL
TPMCNHLENIHNYFQCLAAENHGVVDGPGVKVQEYHIMSSCYQRLLQIFHGLFAWSGFSQ
PENQNLLYSALHVLSSRLKQGEHSQPLEELLSQSVHYLQNFHQSIPSFQCALYLIRLLMV
ILEKSTASAQNKEKIASLARQFLCRVWPSGDKEKSNISNDQLHALLCIYLEHTESILKAI
EEIAGVGVPELINSPKDASSSTFPTLTRHTFVVFFRVMMAELEKTVKKIEPGTAADSQQI
HEEKLLYWNMAVRDFSILINLIKVFDSHPVLHVCLKYGRLFVEAFLKQCMPLLDFSFRKH
REDVLSLLETFQLDTRLLHHLCGHSKIHQDTRLTQHVPLLKKTLELLVCRVKAMLTLNNC
REAFWLGNLKNRDLQGEEIKSQNSQESTADESEDD
MSSQASKSKATEDGEEDEVSAGEKE
QDSDESYDDSD
Sequence length 1451
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fanconi anemia pathway   Fanconi Anemia Pathway
TP53 Regulates Transcription of DNA Repair Genes
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fanconi Anemia fanconi anemia, Fanconi anemia complementation group D2 rs943009372, rs766567785, rs1559399574, rs112832879, rs374328858, rs201811817, rs121917786, rs1553608812, rs1553607671, rs1468320596, rs121917787, rs1289665675, rs1575723664, rs121917788, rs1575824608 N/A
acute myeloid leukemia Acute myeloid leukemia rs112832879 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Hepatoblastoma hepatoblastoma N/A N/A ClinVar
ovarian cancer Ovarian cancer N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aagenaes syndrome Associate 29118324
Acromegaly Associate 40415137
Adenocarcinoma of Lung Associate 35236309, 35509981, 38104669
Adenomatous Polyposis Coli Associate 39519399
Adrenocortical Carcinoma Associate 35500219
Alternating hemiplegia of childhood Associate 31633027
Anemia Hemolytic Associate 17308347, 17384638, 19609304, 20456353, 21389083, 23318456, 25071006, 27208205, 27405460, 32269332, 32409752, 36385258, 36894310, 8896563
ATR X syndrome Associate 31628488
Biliary Tract Neoplasms Associate 25736055
Breast Diseases Associate 23440494