Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2175
Gene name Gene Name - the full gene name approved by the HGNC.
FA complementation group A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FANCA
Synonyms (NCBI Gene) Gene synonyms aliases
FA, FA-H, FA1, FAA, FACA, FAH, FANCH
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3
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
rs1800338 T>C Likely-benign, conflicting-interpretations-of-pathogenicity Synonymous variant, genic downstream transcript variant, coding sequence variant
rs9282684 T>C,G Conflicting-interpretations-of-pathogenicity, uncertain-significance Genic downstream transcript variant, intron variant
rs17233141 G>C Pathogenic, benign-likely-benign, likely-benign Genic downstream transcript variant, missense variant, coding sequence variant
rs34885858 C>A,G Likely-pathogenic Genic downstream transcript variant, splice donor variant
rs121907930 C>T Pathogenic Intron variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016287 hsa-miR-193b-3p Microarray 20304954
MIRT050966 hsa-miR-17-5p CLASH 23622248
MIRT437350 hsa-miR-503-5p LacZ reporter assay, qRT-PCR 24486548
MIRT683369 hsa-miR-4438 HITS-CLIP 23313552
MIRT683368 hsa-miR-3943 HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
E2F1 Activation 18438432
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 IDA 22343915
GO:0005515 Function Protein binding IPI 10627486, 10652215, 11063725, 11726552, 12571280, 12649160, 16189514, 17289582, 17396147, 17474147, 22266823, 22343915, 22705371, 28514442, 31467278, 32814053, 33961781, 35271311, 37398436
GO:0005634 Component Nucleus IDA 11726552
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 9398857
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607139 3582 ENSG00000187741
Protein
UniProt ID O15360
Protein name Fanconi anemia group A protein (Protein FACA)
Protein function DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.
PDB 7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15865 Fanconi_A_N 170 524 Fanconi anaemia group A protein N terminus Family
PF03511 Fanconi_A 1254 1316 Fanconi anaemia group A protein Family
Sequence
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNAL
LLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASS
VGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQSSLLLE
AVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQ
MFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFG
VFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYR
RLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCFPEAQQLLEDWVARLMAQAFE
SCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSEL
VPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVS
IENMGLYEDLSSAGDI
TEPHSQALQDVEKAIMVFEHTGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSR
VAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVRAEPNSAEEPLGQLTAALGEL
RASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVD
LLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPH
VLGLAALAVHLGESRSALPEVDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAA
ISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPS
ADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIH
EHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISR
LQEMVADLELQQDLIVPLGHTPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKR
ILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFCSHGGALTQDITAHFFRGLLN
ACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFL
FFFSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLG
RLLL
RVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSPPA
GRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQ
QAAPDADLSQEPHLF
Sequence length 1455
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fanconi anemia pathway   Fanconi Anemia Pathway
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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 A rs1567601557, rs864622187, rs769862233, rs1555542860, rs1555545553, rs2041026878, rs794726660, rs745882980, rs745568821, rs759877008, rs1598116164, rs1485075318, rs772751654, rs2062172394, rs183350210
View all (199 more)
N/A
Neuroblastoma neuroblastoma rs915983602 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
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Carcinoma Basal cell carcinoma N/A N/A GWAS
Hepatoblastoma hepatoblastoma N/A N/A ClinVar
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Mucinous Associate 34103667
Adenocarcinoma of Lung Associate 31514295, 39375712
Adenomatous Polyposis Coli Associate 39519399
Alopecia Neurologic Defects and Endocrinopathy Syndrome Associate 31461451
Anemia Associate 28215707
Anemia Hemolytic Associate 11091222, 11167740, 15860134, 16445838, 27121516, 32866285, 35954197, 36894310, 8896563
Azoospermia Associate 35366911
Bone Marrow Failure Disorders Associate 11739169, 15860134, 16946016, 32054657, 37450374
Brain Neoplasms Associate 26849056
Breast Neoplasms Associate 10098735, 23021409, 26201965, 28440412, 30947698, 33762291, 35293552