Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10501
MIM: 608873
HGNC: 10739
Ensembl: ENSG00000167680
Variants:
dbSNP: 10501
ClinVar: 10501
TCGA: ENSG00000167680
COSMIC: SEMA6B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167680 | ENST00000586582 | Q9H3T3 |
| ENSG00000167680 | ENST00000586965 | Q9H3T3 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Axon guidance | KEGG | ko04360 |
| Axon guidance | KEGG | hsa04360 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36719163 | 2023 | Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes. | 4 |
| 36719163 | 2023 | Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes. | 4 |
| 35604360 | 2022 | SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. | 2 |
| 35604360 | 2022 | SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. | 2 |
| 33125690 | 2021 | Aberrant expression of semaphorin 6B affects cell phenotypes in thyroid carcinoma by activating the Notch signalling pathway. | 6 |
| 34110594 | 2021 | A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures. | 4 |
| 33125690 | 2021 | Aberrant expression of semaphorin 6B affects cell phenotypes in thyroid carcinoma by activating the Notch signalling pathway. | 6 |
| 34110594 | 2021 | A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures. | 4 |
| 32169168 | 2020 | De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. | 18 |
| 32302524 | 2020 | Genome-Wide CRISPR Screen Identifies Semaphorin 6A and 6B as Receptors for Paeniclostridium sordellii Toxin TcsL. | 20 |
| 32169168 | 2020 | De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. | 18 |
| 32302524 | 2020 | Genome-Wide CRISPR Screen Identifies Semaphorin 6A and 6B as Receptors for Paeniclostridium sordellii Toxin TcsL. | 20 |
| 23665584 | 2013 | Analysis of SEMA6B gene expression in breast cancer: identification of a new isoform. | 12 |
| 23781008 | 2013 | The role of axon guidance factor semaphorin 6B in the invasion and metastasis of gastric cancer. | 17 |
| 23665584 | 2013 | Analysis of SEMA6B gene expression in breast cancer: identification of a new isoform. | 12 |
Citation
Dessen P
SEMA6B (semaphorin 6B)
Atlas Genet Cytogenet Oncol Haematol. 2013-11-01
Online version: http://atlasgeneticsoncology.org/gene/53563/sema6b-(semaphorin-6b)
