SEMA7A Chromosome 15

Semaphorin 7A (JohnMiltonHagen blood group)
6 variants 1 Health Risk 5 Trait

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What This Gene Does
This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"Blood group antigens|CD molecules|Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q24.1
Ensembl
ENSG00000138623
Associated Conditions (4)
Cholestasis
progressive familial intrahepatic
11
John Milton Hagen blood group system
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS200895370 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic, 11
RS387907241 Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS55637216 Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS56001514 Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS56204206 Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS56367230 Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
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