SEMA3F Chromosome 3
Semaphorin 3F
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What This Gene Does
This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Immunoglobulin like domain containing|Semaphorins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000001617
Associated Conditions (2)
SEMA3F-related disorder
Hypogonadotropic hypogonadism
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372829300 | Health Risk | Conflicting classifications of pathogenicity | SEMA3F-related disorder, SEMA3F-related disorder |
| RS768027884 | Trait | Affects | Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism |