FGF14 fibroblast growth factor 14
Gene ID: 2259, updated on 16-Apr-2024Gene type: protein coding
Also known as: FHF4; NYS4; FHF-4; SCA27; FGF-14; SCA27A; SCA27B
- See all available tests in GTR for this gene
- Go to complete Gene record for FGF14
- Go to Variation Viewer for FGF14 variants
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. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. GeneReviews: Not available | |
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder. GeneReviews: Not available | |
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. GeneReviews: Not available | |
Impact of ancestry and common genetic variants on QT interval in African Americans. GeneReviews: Not available | |
Spinocerebellar ataxia 27A | not available |
Spinocerebellar ataxia 27B, late-onset | not available |
Genomic context
- Location:
- 13q33.1
- Sequence:
- Chromosome: 13; NC_000013.11 (101710804..102402443, complement)
- Total number of exons:
- 16
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for FGF14 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FGF14 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.