EPHB4 Chromosome 7

EPH receptor B4
154 variants 154 Health Risk

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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
RS2116449991 Health Risk association Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
RS1056350781 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS111749768 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, EPHB4-related disorder, Capillary malformation-arteriovenous malformation 2
RS114926839 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1159930961 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1330628156 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, EPHB4-related disorder, Capillary malformation-arteriovenous malformation 2
RS140842916 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS141544967 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS142856240 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS146902369 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS147563837 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1584652949 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584653005 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Lymphatic malformation 7, Capillary malformation-arteriovenous malformation 2
RS1584653650 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, EPHB4-related disorder, Cardiovascular phenotype
RS1584654433 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1584667224 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS192640017 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 7, Capillary malformation-arteriovenous malformation 2, Cardiovascular phenotype
RS200549250 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200795996 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201096509 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201465765 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lymphatic malformation 7, Capillary malformation-arteriovenous malformation 2
RS201531252 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS202035530 Health Risk Conflicting classifications of pathogenicity
RS2116474071 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS369954495 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371690893 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372971671 Health Risk Conflicting classifications of pathogenicity
RS373471680 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375150649 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS538766032 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation 2
RS542863867 Health Risk Conflicting classifications of pathogenicity
RS557834060 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS569874323 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746477743 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749734111 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752453773 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS753634998 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758312302 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761047725 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Capillary malformation-arteriovenous malformation 2, Cardiovascular phenotype
RS763645511 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 7, Cardiovascular phenotype, Lymphatic malformation 7
RS764440077 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764620067 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764827256 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS765067395 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765819602 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765931769 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767324545 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767351699 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS769965440 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Cardiovascular phenotype, Capillary malformation-arteriovenous malformation 2
RS771353399 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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