• Gene id: 2259

Gene Summary

• Gene Symbol: FGF14   Gene   UCSC   Ensembl
• Aliases: FGF-14, FHF-4, FHF4, SCA27
• Gene name: fibroblast growth factor 14
• Alternate names: fibroblast growth factor 14, fibroblast growth factor homologous factor 4,
• Gene location: 13q33.1 (102402442: 101710803)     Exons: 16     NC_000013.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cel
• OMIM: 604789

Protein Summary

• Protein general information: Q92915  
  • Name: Fibroblast growth factor 14 (FGF 14) (Fibroblast growth factor homologous factor 4) (FHF 4)
  • Length: 247  
  • Mass: 27702
  • Tissue specificity: Nervous system.
• Sequence:

  MAAAIASGLIRQKRQAREQHWDRPSASRRRSSPSKNRGLCNGNLVDIFSKVRIFGLKKRRLRRQDPQLKGIVTRL
  YCRQGYYLQMHPDGALDGTKDDSTNSTLFNLIPVGLRVVAIQGVKTGLYIAMNGEGYLYPSELFTPECKFKESVF
  ENYYVIYSSMLYRQQESGRAWFLGLNKEGQAMKGNRVKKTKPAAHFLPKPLEVAMYREPSLHDVGETVPKPGVTP
  SKSTSASAIMNGGKPVNKSKTT

• Structural information:
  • Interpro: IPR028284  IPR002209  IPR008996  
  • Prosite: PS00247
  • CDD: cd00058
  • STRING: ENSP00000365301
• Other Databases: GeneCards:  FGF14  Malacards:  FGF14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008083	growth factor activity	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:1901843	positive regulation of high voltage-gated calcium channel activity	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:1901843	positive regulation of high voltage-gated calcium channel activity	IEA	biological process
GO:1903421	regulation of synaptic vesicle recycling	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray