SEMA3A Chromosome 7
Semaphorin 3A
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What This Gene Does
This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Immunoglobulin like domain containing|Semaphorins"
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000075213
Associated Conditions (5)
SEMA3A-related disorder
Hypogonadotropic hypogonadism 16 with or without anosmia
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Amenorrhea
See cases
Key Variants
RS137871935
Conflicting classifications of pathogenicity
SEMA3A-related disorder, Hypogonadotropic hypogonadism 16 with or without anosmia, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS139295139
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 16 with or without anosmia, Amenorrhea, SEMA3A-related disorder
Health Risk
RS144690677
Conflicting classifications of pathogenicity
SEMA3A-related disorder, SEMA3A-related disorder
Health Risk
RS36026860
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 16 with or without anosmia, SEMA3A-related disorder, Hypogonadotropic hypogonadism 16 with or without anosmia
Health Risk
RS747485179
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1064793265
Likely pathogenic
Health Risk
RS1404070020
risk factor
Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia
Health Risk
RS2484774376
risk factor
Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia
Health Risk
RS919402688
risk factor
Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137871935 | Health Risk | Conflicting classifications of pathogenicity | SEMA3A-related disorder, Hypogonadotropic hypogonadism 16 with or without anosmia, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS139295139 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 16 with or without anosmia, Amenorrhea, SEMA3A-related disorder |
| RS144690677 | Health Risk | Conflicting classifications of pathogenicity | SEMA3A-related disorder, SEMA3A-related disorder |
| RS36026860 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 16 with or without anosmia, SEMA3A-related disorder, Hypogonadotropic hypogonadism 16 with or without anosmia |
| RS747485179 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1064793265 | Health Risk | Likely pathogenic | — |
| RS1404070020 | Health Risk | risk factor | Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia |
| RS2484774376 | Health Risk | risk factor | Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia |
| RS919402688 | Health Risk | risk factor | Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia |