Gene: EPHB4

Alternate names for this Gene: CMAVM2|HFASD|HTK|LMPHM7|MYK1|TYRO11

Gene Summary: Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: EPH receptor B4

Type of Gene: protein-coding

rs1330628156 in EPHB4 gene and CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 PMID 30578106 2019 Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.

PMID 28687708 2017 Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

PMID 28730721 2017 EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.

PMID 29444212 2018 Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

rs2437101 in EPHB4 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs116979562 in EPHB4 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs314349 in EPHB4 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs116979562 in EPHB4 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs314311 in EPHB4 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1057515420 in EPHB4 gene and Tetralogy of Fallot PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.