• Gene id: 2257

Gene Summary

• Gene Symbol: FGF12   Gene   UCSC   Ensembl
• Aliases: EIEE47, FGF12B, FHF1
• Gene name: fibroblast growth factor 12
• Alternate names: fibroblast growth factor 12, fibroblast growth factor 12B, fibroblast growth factor FGF-12b, fibroblast growth factor homologous factor 1, myocyte-activating factor,
• Gene location: 3q28-q29 (192727540: 192139389)     Exons: 10     NC_000003.12
• 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: 601513

Protein Summary

• Protein general information: P61328  
  • Name: Fibroblast growth factor 12 (FGF 12) (Fibroblast growth factor homologous factor 1) (FHF 1) (Myocyte activating factor)
  • Length: 243  
  • Mass: 27399
  • Tissue specificity: Brain, eye and testis; highly expressed in embryonic retina, olfactory epithelium, olfactory bulb, and in a segmental pattern of the body wall; in adult olfactory bulb, less in cerebellum, deep cerebellar nuclei, cortex and multiple mi
• Sequence:

  MAAAIASSLIRQKRQARESNSDRVSASKRRSSPSKDGRSLCERHVLGVFSKVRFCSGRKRPVRRRPEPQLKGIVT
  RLFSQQGYFLQMHPDGTIDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKES
  VFENYYVIYSSTLYRQQESGRAWFLGLNKEGQIMKGNRVKKTKPSSHFVPKPIEVCMYREPSLHEIGEKQGRSRK
  SSGTPTMNGGKVVNQDST

• Structural information:
  • Interpro: IPR028254  IPR002209  IPR008996  
  • Prosite: PS00247
  • CDD: cd00058
  • PDB: 1Q1U 4JQ0
  • PDBsum: 1Q1U 4JQ0
  • DIP: 59850
  • STRING: ENSP00000413496
• Other Databases: GeneCards:  FGF12  Malacards:  FGF12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1905150	regulation of voltage-gated sodium channel activity	IMP	biological process
GO:0098908	regulation of neuronal action potential	IMP	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008543	fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	TAS	molecular function
GO:0008083	growth factor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0007507	heart development	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
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:1902305	regulation of sodium ion transmembrane transport	IEA	biological process
GO:0017080	sodium channel regulator activity	IEA	molecular function
GO:0003254	regulation of membrane depolarization	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0010765	positive regulation of sodium ion transport	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:2001258	negative regulation of cation channel activity	IEA	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0017080	sodium channel regulator activity	ISS	molecular function
GO:0086002	cardiac muscle cell action potential involved in contraction	NAS	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	ISS	biological process
GO:1902305	regulation of sodium ion transmembrane transport	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)