SEMA5A (semaphorin 5A)

2003-11-01  

Identity

HGNC
LOCATION
5p15.31
LOCUSID
ALIAS
SEMAF,semF
FUSION GENES

Other Information

Locus ID:

NCBI: 9037
MIM: 609297
HGNC: 10736
Ensembl: ENSG00000112902

Variants:

dbSNP: 9037
ClinVar: 9037
TCGA: ENSG00000112902
COSMIC: SEMA5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112902ENST00000382496Q13591
ENSG00000112902ENST00000382496X5DR95
ENSG00000112902ENST00000513968D6RAF4
ENSG00000112902ENST00000652226Q13591
ENSG00000112902ENST00000652226X5DR95

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Semaphorin interactionsREACTOMER-HSA-373755
Other semaphorin interactionsREACTOMER-HSA-416700
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
198126732009A genome-wide linkage and association scan reveals novel loci for autism.254
198126732009A genome-wide linkage and association scan reveals novel loci for autism.254
162522312005High-resolution whole-genome association study of Parkinson disease.166
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
208020222010Identification of a novel biomarker, SEMA5A, for non-small cell lung carcinoma in nonsmoking women.120
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
152185272004Plexin-B3 is a functional receptor for semaphorin 5A.48
170284462006Constitutional downregulation of SEMA5A expression in autism.29
206967652010Semaphorin 5A and plexin-B3 inhibit human glioma cell motility through RhoGDIalpha-mediated inactivation of Rac1 GTPase.29

Citation

Dessen P

SEMA5A (semaphorin 5A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42257/sema5a-(semaphorin-5a)