MVB12B
Multivesicular Body Subunit 12B
Gene Information Card
| Symbol | MVB12B |
|---|---|
| Full Name | Multivesicular Body Subunit 12B |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 89853 ncbi.nlm.nih.gov/gene/89853 |
| Ensembl ID | ENSG00000196878 |
| UniProt ID | Q9H7P6 |
| OMIM ID | 615631 |
| HGNC ID | 26199 |
| Aliases | C9orf28, FAM125B, MVB12B |
Description
MVB12B encodes a component of the ESCRT-I complex, which is essential for multivesicular body (MVB) biogenesis and sorting of ubiquitinated membrane proteins into intraluminal vesicles. The protein contains a ubiquitin E2 variant (UEV) domain and a Vps28-binding domain, facilitating cargo recognition and complex assembly. MVB12B is involved in endosomal trafficking, receptor downregulation, and cytokinesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No curated disease entries in OMIM or ClinVar as of current release |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 6.8 | Low expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Likely loss of start codon; functional impact unknown |
| c.325C>T (p.Arg109Trp) | Missense | 0.02% (gnomAD) | Located in UEV domain; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • protein ubiquitination |
| • ESCRT complex | • multivesicular body assembly |
| • intraluminal vesicle formation |
Pathways
• ESCRT-I pathway (Reactome: R-HSA-917729)
• Endosomal sorting complex required for transport (ESCRT)
Protein Summary
MVB12B is a 272-amino-acid protein (UniProt Q9H7P6) that functions as a subunit of the ESCRT-I complex. It contains an N-terminal UEV domain that binds ubiquitin and a C-terminal region that interacts with VPS28. The protein is localized to endosomes and the midbody, playing roles in membrane remodeling, receptor degradation, and abscission during cell division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MVB12B Knockout HEK293 Cell Line | EDJ-KQ9801 | Human | 89853 | Details Get a Quote |
| MVB12B Knockout A-549 Cell Line | EDJ-KQ37936 | Human | 89853 | Details Get a Quote |
| MVB12B Knockout HCT 116 Cell Line | EDJ-KQ37937 | Human | 89853 | Details Get a Quote |
| MVB12B Knockout HeLa Cell Line | EDJ-KQ37938 | Human | 89853 | Details Get a Quote |
