SEMA3E Chromosome 7
Semaphorin 3E
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What This Gene Does
Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Gene Info
Gene Group
"Immunoglobulin like domain containing|Semaphorins"
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000170381
Associated Conditions (5)
CHARGE syndrome
Hypogonadotropic hypogonadism 5 with or without anosmia
SEMA3E-related disorder
Hypogonadotropic hypogonadism 7 with or without anosmia
Dilated cardiomyopathy 1A
Key Variants
RS121918341
Conflicting classifications of pathogenicity
CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
Health Risk
RS144370841
Conflicting classifications of pathogenicity
CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome
Health Risk
RS147614840
Conflicting classifications of pathogenicity
CHARGE syndrome, SEMA3E-related disorder, Hypogonadotropic hypogonadism 5 with or without anosmia
Health Risk
RS148649507
Conflicting classifications of pathogenicity
CHARGE syndrome, SEMA3E-related disorder, Hypogonadotropic hypogonadism 7 with or without anosmia
Health Risk
RS1788078377
Conflicting classifications of pathogenicity
CHARGE syndrome, CHARGE syndrome
Health Risk
RS201465097
Conflicting classifications of pathogenicity
CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome
Health Risk
RS2116916386
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1A, SEMA3E-related disorder, Dilated cardiomyopathy 1A
Health Risk
RS371994521
Conflicting classifications of pathogenicity
CHARGE syndrome, Hypogonadotropic hypogonadism 7 with or without anosmia, SEMA3E-related disorder
Health Risk
RS538244011
Conflicting classifications of pathogenicity
CHARGE syndrome, CHARGE syndrome
Health Risk
RS754158945
Conflicting classifications of pathogenicity
CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome
Health Risk
RS763295904
Conflicting classifications of pathogenicity
CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome
Health Risk
RS765040215
Conflicting classifications of pathogenicity
CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918341 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome |
| RS144370841 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome |
| RS147614840 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, SEMA3E-related disorder, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS148649507 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, SEMA3E-related disorder, Hypogonadotropic hypogonadism 7 with or without anosmia |
| RS1788078377 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHARGE syndrome |
| RS201465097 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome |
| RS2116916386 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1A, SEMA3E-related disorder, Dilated cardiomyopathy 1A |
| RS371994521 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 7 with or without anosmia, SEMA3E-related disorder |
| RS538244011 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, CHARGE syndrome |
| RS754158945 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome |
| RS763295904 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome |
| RS765040215 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, SEMA3E-related disorder, CHARGE syndrome |
| RS771976054 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 7 with or without anosmia, SEMA3E-related disorder |
| RS773917768 | Health Risk | Conflicting classifications of pathogenicity | CHARGE syndrome, Hypogonadotropic hypogonadism 7 with or without anosmia, SEMA3E-related disorder |
| RS2115654665 | Health Risk | Likely pathogenic | CHARGE syndrome, CHARGE syndrome |