Identity
HGNC
LOCATION
9q33.3
LOCUSID
ALIAS
C9orf28,FAM125B
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: 89853
HGNC: 23368
Ensembl: ENSG00000196814
Variants:
dbSNP: 89853
ClinVar: 89853
TCGA: ENSG00000196814
COSMIC: MVB12B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196814 | ENST00000361171 | Q9H7P6 |
| ENSG00000196814 | ENST00000361171 | A0A024R8B8 |
| ENSG00000196814 | ENST00000402437 | F8W922 |
| ENSG00000196814 | ENST00000489637 | Q9H7P6 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
| ESCRT-I complex | KEGG | hsa_M00409 |
| ESCRT-I complex | KEGG | M00409 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 24518671 | 2014 | A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. | 21 |
| 24518671 | 2014 | A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. | 21 |
| 22232651 | 2012 | Structural basis for membrane targeting by the MVB12-associated β-prism domain of the human ESCRT-I MVB12 subunit. | 30 |
| 22232651 | 2012 | Structural basis for membrane targeting by the MVB12-associated β-prism domain of the human ESCRT-I MVB12 subunit. | 30 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20583170 | 2010 | Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. | 13 |
| 20654576 | 2010 | Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. | 11 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20583170 | 2010 | Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. | 13 |
| 20654576 | 2010 | Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. | 11 |
Citation
Dessen P
MVB12B (multivesicular body subunit 12B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70588/mvb12b-(multivesicular-body-subunit-12b)
