Gene: SEMA3D

Alternate names for this Gene: Sema-Z2|coll-2

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.11

Description of this Gene: semaphorin 3D

Type of Gene: protein-coding

rs1057519374 in SEMA3D gene and Progressive sensorineural hearing impairment PMID 27876815 2017 Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.

rs4727099 in SEMA3D gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11771699 in SEMA3D gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7800072 in SEMA3D gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.