Gene: FGF12

Alternate names for this Gene: DEE47|EIEE47|FGF12B|FHF1

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. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined.

Gene is located in Chromosome: 3

Location in Chromosome : 3q28-q29

Description of this Gene: fibroblast growth factor 12

Type of Gene: protein-coding

rs1553798675 in FGF12 gene and Delayed speech and language development PMID 27872899 2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

rs1553798675 in FGF12 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 PMID 27872899 2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

rs1827545 in FGF12 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs4453795 in FGF12 gene and Phospholipid measurement PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

rs1553798675 in FGF12 gene and Seizures PMID 27872899 2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

rs4453795 in FGF12 gene and Serum albumin measurement PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

rs1553798675 in FGF12 gene and Tonic - clonic seizures PMID 27872899 2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

rs12107377 in FGF12 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs189326995 in FGF12 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.