SEMA3D (semaphorin 3D)

2008-12-01  

Identity

HGNC
SEMA3D
LOCATION
7q21.11
LOCUSID
223117
ALIAS
Sema-Z2,coll-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 223117
MIM: 609907
HGNC: 10726
Ensembl: ENSG00000153993

Variants:

dbSNP: 223117
ClinVar: 223117
TCGA: ENSG00000153993
COSMIC: SEMA3D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153993ENST00000284136O95025
ENSG00000153993ENST00000444867C9JYT6

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
188187662008Successful inhibition of tumor development by specific class-3 semaphorins is associated with expression of appropriate semaphorin receptors by tumor cells.49
258393272015Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.31
248258962014Semaphorin 3d and semaphorin 3e direct endothelial motility through distinct molecular signaling pathways.26
236858422013Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections.24
190545712009Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.18
278768152017Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.16
260737562015CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies.14
206848312011Possible association of the semaphorin 3D gene (SEMA3D) with schizophrenia.10
206848312011Possible association of the semaphorin 3D gene (SEMA3D) with schizophrenia.10
233727692013Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.8

Citation

Dessen P

SEMA3D (semaphorin 3D)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50589/sema3d