• Gene id: 2176

Gene Summary

• Gene Symbol: FANCC   Gene   UCSC   Ensembl
• Aliases: FA3, FAC, FACC
• Gene name: FA complementation group C
• Alternate names: Fanconi anemia group C protein, Fanconi anemia complementation group C,
• Gene location: 9q22.32 (95317729: 95099053)     Exons: 22     NC_000009.12
• 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: 603053

Protein Summary

• Protein general information: Q00597  
  • Name: Fanconi anemia group C protein (Protein FACC)
  • Length: 558  
  • Mass: 63429
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKAC
  WNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLL
  KNMVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNE
  AILLKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRC
  ALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELL
  REAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVL
  GHLLAMSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGF
  LDQTLYRWNRLGIESPRSEKLARELLKELRTQV

• Structural information:
  • Interpro: IPR000686  
  • DIP: 32846
  • STRING: ENSP00000289081
• Other Databases: GeneCards:  FANCC  Malacards:  FANCC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034599	cellular response to oxidative stress	IBA	biological process
GO:0006289	nucleotide-excision repair	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: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:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006281	DNA repair	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: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:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0048854	brain morphogenesis	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0019430	removal of superoxide radicals	IEA	biological process
GO:0007276	gamete generation	IEA	biological process
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0002262	myeloid cell homeostasis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0034599	cellular response to oxidative stress	IBA	biological process
GO:0006289	nucleotide-excision repair	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: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:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006281	DNA repair	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: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:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0048854	brain morphogenesis	IEA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0019430	removal of superoxide radicals	IEA	biological process
GO:0007276	gamete generation	IEA	biological process
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0002262	myeloid cell homeostasis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	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
tongue squamous cell carcinoma	PMID:17409780
pancytopenia	PMID:10627482
Fanconi anemia	PMID:16429406
Fanconi anemia	PMID:11110674
Breast cancer	PMID:23028338
pancreatic cancer	PMID:15695377
acute myeloid leukemia	PMID:12670332
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Low sperm motility	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Low sperm motility			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R