SEMA4A (semaphorin 4A)

2015-12-01  

Identity

HGNC
SEMA4A
LOCATION
1q22
LOCUSID
64218
ALIAS
CORD10,RP35,SEMAB,SEMB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64218
MIM: 607292
HGNC: 10729
Ensembl: ENSG00000196189

Variants:

dbSNP: 64218
ClinVar: 64218
TCGA: ENSG00000196189
COSMIC: SEMA4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196189ENST00000355014Q9H3S1
ENSG00000196189ENST00000368282Q9H3S1
ENSG00000196189ENST00000368284Q9H3S1
ENSG00000196189ENST00000368285Q9H3S1
ENSG00000196189ENST00000368286Q5TCJ5
ENSG00000196189ENST00000414683Q5TCJ7
ENSG00000196189ENST00000435124Q5TCI6
ENSG00000196189ENST00000438830Q5TCI4
ENSG00000196189ENST00000633494A0A0J9YVY6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Semaphorin interactionsREACTOMER-HSA-373755
Other semaphorin interactionsREACTOMER-HSA-416700

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
161995412006Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.32
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
253078482014Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.21
224912532012Elevation of Sema4A implicates Th cell skewing and the efficacy of IFN-β therapy in multiple sclerosis.17
263031222015Expression of Semaphorin 4A and its potential role in rheumatoid arthritis.15
294576572018Semaphorin4A and H-ferritin utilize Tim-1 on human oligodendrocytes: A novel neuro-immune axis.13
294673662018Human Semaphorin-4A drives Th2 responses by binding to receptor ILT-4.12
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
230072372013An inhibitory role for Sema4A in antigen-specific allergic asthma.10
229566032012SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.8

Citation

Dessen P

SEMA4A (semaphorin 4A)

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/gene/55553/sema4a