EPHB4 EPH receptor B4
Gene ID: 2050, updated on 19-Sep-2024Gene type: protein coding
Also known as: HTK; MYK1; HFASD; CMAVM2; LMPHM7; TYRO11
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- Go to complete Gene record for EPHB4
- Go to Variation Viewer for EPHB4 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Capillary malformation-arteriovenous malformation 2 | See labs |
Capillary malformation-arteriovenous malformation syndrome MedGen: C1842180GeneReviews: Capillary Malformation-Arteriovenous Malformation Syndrome | See labs |
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. GeneReviews: Not available | |
Lymphatic malformation 7 | See labs |
Genomic context
- Location:
- 7q22.1
- Sequence:
- Chromosome: 7; NC_000007.14 (100802565..100827523, complement)
- Total number of exons:
- 17
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for EPHB4 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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