Identity
HGNC
LOCATION
2p13.2
LOCUSID
ALIAS
SEC15B,SEC15L2,SEMDJL3
FUSION GENES
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: 23233
MIM: 607880
HGNC: 17085
Ensembl: ENSG00000144036
Variants:
dbSNP: 23233
ClinVar: 23233
TCGA: ENSG00000144036
COSMIC: EXOC6B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000144036 | ENST00000272427 | Q9Y2D4 |
| ENSG00000144036 | ENST00000410104 | J3QT38 |
| ENSG00000144036 | ENST00000410112 | F8W6R7 |
| ENSG00000144036 | ENST00000634650 | A0A0U1RRB6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33006481 | 2022 | CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis. | 19 |
| 36150098 | 2022 | Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. | 2 |
| 33006481 | 2022 | CircEXOC6B Suppresses the Proliferation and Motility and Sensitizes Ovarian Cancer Cells to Paclitaxel Through miR-376c-3p/FOXO3 Axis. | 19 |
| 36150098 | 2022 | Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. | 2 |
| 26669664 | 2016 | A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. | 10 |
| 26669664 | 2016 | A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. | 10 |
| 25256811 | 2014 | Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. | 11 |
| 25256811 | 2014 | Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. | 11 |
| 23837398 | 2013 | Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2. | 19 |
| 23837398 | 2013 | Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2. | 19 |
| 22433857 | 2012 | A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis. | 78 |
| 22433857 | 2012 | A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis. | 78 |
| 18424204 | 2008 | Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype. | 13 |
| 18424204 | 2008 | Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype. | 13 |
Citation
Dessen P
EXOC6B (exocyst complex component 6B)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/50565
