EPHB4 Chromosome 7
EPH receptor B4
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What This Gene Does
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]
Gene Info
Gene Group
"Sterile alpha motif domain containing|EPH receptors"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000196411
Associated Conditions (10)
Vein of Galen aneurysmal malformation
Cardiovascular phenotype
EPHB4-related disorder
Capillary malformation-arteriovenous malformation 2
Lymphatic malformation 7
Venous malformation
EPHB4-associated vascular malformation spectrum
Arteriovenous malformation
Hereditary lymphedema type I
Capillary malformation-arteriovenous malformation syndrome
Key Variants
RS2116449991
association
Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
Health Risk
RS1056350781
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS111749768
Conflicting classifications of pathogenicity
Cardiovascular phenotype, EPHB4-related disorder, Capillary malformation-arteriovenous malformation 2
Health Risk
RS114926839
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1159930961
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
Health Risk
RS1330628156
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation 2, EPHB4-related disorder, Capillary malformation-arteriovenous malformation 2
Health Risk
RS140842916
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS141544967
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS142856240
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS146902369
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS147563837
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1584652949
Conflicting classifications of pathogenicity
Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
Health Risk
All Variants (154)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772457252 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS775083333 | Health Risk | Conflicting classifications of pathogenicity | Venous malformation, Cardiovascular phenotype, Venous malformation |
| RS778891426 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS780095931 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS898898802 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, EPHB4-related disorder, Capillary malformation-arteriovenous malformation 2 |
| RS977239511 | Health Risk | Conflicting classifications of pathogenicity | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS112410846 | Health Risk | Likely pathogenic | EPHB4-related disorder, EPHB4-related disorder |
| RS1235297746 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1302206828 | Health Risk | Likely pathogenic | EPHB4-related disorder, EPHB4-related disorder |
| RS1584651110 | Health Risk | Likely pathogenic | Lymphatic malformation 7, Lymphatic malformation 7 |
| RS1584653054 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1584653620 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1584658113 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1812966939 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1813095852 | Health Risk | Likely pathogenic | — |
| RS1813296662 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1813307862 | Health Risk | Likely pathogenic | — |
| RS2116414460 | Health Risk | Likely pathogenic | — |
| RS2116416678 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2116431583 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2116432544 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2116432568 | Health Risk | Likely pathogenic | — |
| RS2116434413 | Health Risk | Likely pathogenic | — |
| RS2116443777 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2116450530 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2485000498 | Health Risk | Likely pathogenic | EPHB4-associated vascular malformation spectrum, EPHB4-associated vascular malformation spectrum |
| RS2485003454 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2485019781 | Health Risk | Likely pathogenic | — |
| RS2485028062 | Health Risk | Likely pathogenic | EPHB4-related disorder, EPHB4-related disorder |
| RS2485028492 | Health Risk | Likely pathogenic | — |
| RS2485037560 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2485037567 | Health Risk | Likely pathogenic | — |
| RS2485044899 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS2485044907 | Health Risk | Likely pathogenic | EPHB4-related disorder, EPHB4-related disorder |
| RS761905713 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS764404042 | Health Risk | Likely pathogenic | EPHB4-related disorder, EPHB4-related disorder |
| RS776410552 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS776818724 | Health Risk | Likely pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS778138685 | Health Risk | Likely pathogenic | — |
| RS968248232 | Health Risk | Likely pathogenic | — |
| RS1057519263 | Health Risk | Pathogenic | Lymphatic malformation 7, Lymphatic malformation 7 |
| RS1057519264 | Health Risk | Pathogenic | Lymphatic malformation 7, Lymphatic malformation 7 |
| RS1476077876 | Health Risk | Pathogenic | — |
| RS1484547615 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1562967463 | Health Risk | Pathogenic | Lymphatic malformation 7, Lymphatic malformation 7 |
| RS1562973480 | Health Risk | Pathogenic | — |
| RS1562973541 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1562973614 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1562976493 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |
| RS1584666961 | Health Risk | Pathogenic | Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2 |