SEMA3C Chromosome 7

Semaphorin 3C
3 variants 3 Health Risk

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What This Gene Does
This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"I-set domain containing|Semaphorins"
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000075223
Associated Conditions (1)
SEMA3C-related disorder
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS138522639 Health Risk Conflicting classifications of pathogenicity SEMA3C-related disorder, SEMA3C-related disorder
RS148790247 Health Risk Conflicting classifications of pathogenicity SEMA3C-related disorder, SEMA3C-related disorder
RS775840914 Health Risk Conflicting classifications of pathogenicity
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