Gene: MERTK

Alternate names for this Gene: MER|RP38|Tyro12|c-Eyk|c-mer

Gene Summary: This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP).

Gene is located in Chromosome: 2

Location in Chromosome : 2q13

Description of this Gene: MER proto-oncogene, tyrosine kinase

Type of Gene: protein-coding

rs4374383 in MERTK gene and Hepatitis C PMID 22841784 2012 In the combined cohort of 2342 HCV-infected patients, the SNPs rs16851720 (in the total sample) and rs4374383 (in patients who received blood transfusions) were associated with fibrosis progression (P(combined) = 8.9 × 10(-9) and 1.1 × 10(-9), respectively).

rs10179948 in MERTK 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.

rs4374383 in MERTK gene and Liver Cirrhosis PMID 22841784 2012 Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.

rs17174870 in MERTK gene and Multiple Sclerosis PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

rs541717028 in MERTK gene and Retinitis Pigmentosa PMID 15111602 2004 MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

PMID 24625443 2014 Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

rs10207726 in MERTK gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.