Gene: FRMD4A

Alternate names for this Gene: CCAFCA|FRMD4|bA295P9.4

Gene Summary: This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 10

Location in Chromosome : 10p13

Description of this Gene: FERM domain containing 4A

Type of Gene: protein-coding

rs17153734 in FRMD4A gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17314229 in FRMD4A gene and Alzheimer's Disease PMID 22430674 2013 Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.

rs12570849 in FRMD4A gene and Antiphospholipid Syndrome PMID 28424481 2017 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome.

rs1887004 in FRMD4A gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1887004 in FRMD4A gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs1887004 in FRMD4A gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs10906522 in FRMD4A gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs41506144 in FRMD4A gene and Cholecystolithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs41506144 in FRMD4A gene and Cholelithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs4750407 in FRMD4A gene and Goldenhar Syndrome PMID 26853712 2016 Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.

rs10906564 in FRMD4A 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.

rs11258541 in FRMD4A gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs11258533 in FRMD4A gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11258541 in FRMD4A gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs17153734 in FRMD4A gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1218412 in FRMD4A gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs2457837 in FRMD4A gene and Takayasu Arteritis PMID 25604533 2015 Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study.