• Gene id: 2188

Gene Summary

• Gene Symbol: FANCF   Gene   UCSC   Ensembl
• Aliases: FAF
• Gene name: FA complementation group F
• Alternate names: Fanconi anemia group F protein, Fanconi anemia complementation group F,
• Gene location: 11p14.3 (201790323: 201895549)     Exons: 23     NC_000002.12
• 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: 613897

Protein Summary

• Protein general information: Q9NPI8  
  • Name: Fanconi anemia group F protein (Protein FACF)
  • Length: 374  
  • Mass: 42254
• Sequence:

  MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRG
  PVPGLANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNG
  YRENPNLQEDSLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPG
  IHKSPGEGSQVLVHWLLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQ
  DVPWEELHNRFQSLCQAPPPLKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV

• Structural information:
  • Interpro: IPR035428  IPR038505  
  • PDB: 2IQC
  • PDBsum: 2IQC
  • STRING: ENSP00000330875
• Other Databases: GeneCards:  FANCF  Malacards:  FANCF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043240	Fanconi anaemia nuclear complex	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
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:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	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
Granulosa cell tumor	PMID:15574200
adenocarcinoma in situ	PMID:14647419
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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