FGF13: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

FGF13

Aliases

FGF-13, FGF2, FHF-2, FHF2, LINC00889

Entrez Gene ID

2258

Gene Name

Fibroblast growth factor 13

Chromosomal Location

Xq26.3-q27.1

HGNC ID

HGNC:3670

Summary

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, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]

e!Ensembl

Gene	ENSG00000129682
Transcript	ENST00000315930, ENST00000305414, ENST00000441825, ENST00000626909, ENST00000436198, ENST00000455663, ENST00000448673, ENST00000421460
Protein	ENSP00000322390, ENSP00000303391, ENSP00000409276, ENSP00000487411, ENSP00000396198, ENSP00000406916, ENSP00000411999, ENSP00000388688

Gene Ontology (GO)

Show/Hide all(18 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000165	Biological process	MAPK cascade	IDA	12244047
GO:0006814	Biological process	Sodium ion transport	ISS	21817159
GO:0007165	Biological process	Signal transduction	TAS	8790420
GO:0007267	Biological process	Cell-cell signaling	TAS	8790420
GO:0007399	Biological process	Nervous system development	TAS	8790420
GO:0072659	Biological process	Protein localization to plasma membrane	ISS	21817159
GO:0098909	Biological process	Regulation of cardiac muscle cell action potential involved in regulation of contraction	ISS	21817159
GO:0005634	Cellular component	Nucleus	IDA	8790420
GO:0005634	Cellular component	Nucleus	ISS	21817159
GO:0005737	Cellular component	Cytoplasm	IPI	12244047
GO:0005737	Cellular component	Cytoplasm	ISS	21817159
GO:0014704	Cellular component	Intercalated disc	ISS	21817159
GO:0016328	Cellular component	Lateral plasma membrane	ISS	21817159
GO:0005515	Molecular function	Protein binding	IPI	15282281, 26392562
GO:0017080	Molecular function	Sodium channel regulator activity	IDA	15282281
GO:0017080	Molecular function	Sodium channel regulator activity	ISS	21817159
GO:0030295	Molecular function	Protein kinase activator activity	IGI	12244047
GO:0044325	Molecular function	Ion channel binding	ISS	21817159

Protein Information

Protein Name

Fibroblast growth factor 13, fibroblast growth factor homologous factor 2

Function

Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Through its action on microtubules, may participate to the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus. .; May regulate voltage-gated sodium channels transport and function. .; May also play a role in MAPK signaling.

UniProt

Q92913

PDB

4DCK, 4JPZ, 3HBW

Pfam

Pfam Accession	Pfam ID
PF00167	FGF