InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FGF14

Summary

InnateDB Protein

IDBP-48308.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FGF14

Protein Name

fibroblast growth factor 14

Synonyms

FGF-14; FHF-4; FHF4; SCA27;

Species

Homo sapiens

Ensembl Protein

ENSP00000365301

InnateDB Gene

IDBG-48304 (FGF14)

Protein Structure

UniProt Annotation

Function

Probably involved in nervous system development and function.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Spinocerebellar ataxia 27 (SCA27) [MIM:609307]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA27 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly progressive disorder, with onset in late-childhood to early adulthood, characterized by ataxia with tremor, orofacial dyskinesia, psychiatric symptoms and cognitive deficits. {ECO:0000269PubMed:12489043}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Nervous system.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008083	growth factor activity
GO:0008201	heparin binding

Biological Process

GO:0007165	signal transduction
GO:0007254	JNK cascade
GO:0007267	cell-cell signaling
GO:0007268	synaptic transmission
GO:0007399	nervous system development
GO:0008219	cell death
GO:0008344	adult locomotory behavior
GO:0010765	positive regulation of sodium ion transport
GO:0050905	neuromuscular process