SEMA3D Chromosome 7
Semaphorin 3D
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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 like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"V-set domain containing|Semaphorins"
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000153993
Associated Conditions (3)
Aganglionic megacolon
SEMA3D-related disorder
Progressive sensorineural hearing impairment
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141893504 | Health Risk | Conflicting classifications of pathogenicity | Aganglionic megacolon, SEMA3D-related disorder, Aganglionic megacolon |
| RS1057519374 | Health Risk | Pathogenic | Progressive sensorineural hearing impairment, SEMA3D-related disorder, Progressive sensorineural hearing impairment |