• Gene id: 2175

Gene Summary

• Gene Symbol: FANCA   Gene   UCSC   Ensembl
• Aliases: FA, FA-H, FA1, FAA, FACA, FAH, FANCH
• Gene name: FA complementation group A
• Alternate names: Fanconi anemia group A protein, Fanconi anemia complementation group A, Fanconi anemia, complementation group H, Fanconi anemia, type 1,
• Gene location: 16q24.3 (89816646: 89737548)     Exons: 44     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 607139

Protein Summary

• Protein general information: O15360  
  • Name: Fanconi anemia group A protein (Protein FACA)
  • Length: 1455  
  • Mass: 162775
• Sequence:

  MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLS
  KVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLE
  FAQYLLAHSMFSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASC
  QHADVARAMLSDFVQMFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFG
  VFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYRRLFVMLSAEELVGHL
  QEVLETQEVHWQRVLSFVSALVVCFPEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYAD
  WFKASFGSTRGYHGCSKKALVFLFTFLSELVPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSI
  ENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEHTGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSR
  VAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVRAEPNSAEEPLGQLTAALGELRASMTDPSQRDVISA
  QVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVDLLLTSFCQNLMAASSVAPPERQGPWAALFV
  RTMCGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSALPEVDVGPPAPGAGLPVPALFDSLLTCR
  TRDSLFFCLKFCTAAISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPS
  ADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIHEHFLPESSASGGCDG
  DLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGHTPSQEHFLFE
  IFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFCSHGGA
  LTQDITAHFFRGLLNACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKL
  QEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFLFFFSLMGLLSSHLTS
  NSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLLRVAPDQHTRLLPFAFYSLLSYFHEDAAIRE
  EAFLHVAVDMYLKLVQLFVAGDTSTVSPPAGRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADR
  GDCDPEVSAALQSRQQAAPDADLSQEPHLF

• Structural information:
  • Interpro: IPR003516  IPR031729  
  • DIP: 32650
  • STRING: ENSP00000373952
• Other Databases: GeneCards:  FANCA  Malacards:  FANCA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045589	regulation of regulatory T cell differentiation	IBA	biological process
GO:0043240	Fanconi anaemia nuclear complex	IBA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036297	interstrand cross-link repair	IEA	biological process
GO:0043240	Fanconi anaemia nuclear complex	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008584	male gonad development	IEA	biological process
GO:0007140	male meiotic nuclear division	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0045589	regulation of regulatory T cell differentiation	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0051090	regulation of DNA-binding transcription factor activity	IEA	biological process
GO:2000348	regulation of CD40 signaling pathway	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Fanconi anemia	KEGG:H00238
Fanconi anemia	KEGG:H00238
urinary bladder cancer	PMID:19237606
Fanconi anemia	PMID:11110674
Fanconi anemia	PMID:12827451
Fanconi anemia	PMID:15523645
Breast cancer	PMID:23021409
pancreatic cancer	PMID:15591268
Ovarian cancer	PMID:15860134
Esophagus squamous cell carcinoma	PMID:21279724
cervical cancer	PMID:19012493
premature ovarian failure	PMID:24045675
skin melanoma	PMID:25243787
acute myeloid leukemia	PMID:14749703
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Sertoli cell-only syndrome (SCOS), Azoospermia	MIK: 29904161
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29904161	Sertoli cell-only syndrome (SCOS), Azoospermia	c.2639C>T (p.Arg880Gln), c.3788_3790delTCT (p.Phe1263del), c.3913C>T (p.Leu1305Phe), c.3913C>T (p.Leu1305Phe)		30 cases	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R