Gene: FGF14

Alternate names for this Gene: FGF-14|FHF-4|FHF4|SCA27

Gene 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q33.1

Description of this Gene: fibroblast growth factor 14

Type of Gene: protein-coding

rs1336698 in FGF14 gene and Common Variable Immunodeficiency PMID 21497890 2011 Genome-wide association identifies diverse causes of common variable immunodeficiency.

rs2607653 in FGF14 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs11617740 in FGF14 gene and Pre-Eclampsia PMID 23551011 2013 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.

rs104894393 in FGF14 gene and SPINOCEREBELLAR ATAXIA 27 PMID 12489043 2003 A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

rs11617740 in FGF14 gene and Septic Toxemia PMID 23551011 2013 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.

rs2607653 in FGF14 gene and response to simvastatin PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.