SEMA7A Chromosome 15
Semaphorin 7A (JohnMiltonHagen blood group)
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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
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 |