MVB12A
Multivesicular Body Subunit 12A
Gene Information Card
| Symbol | MVB12A |
|---|---|
| Full Name | Multivesicular Body Subunit 12A |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 93343 ncbi.nlm.nih.gov/gene/93343 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q96EY5 |
| OMIM ID | 615634 |
| HGNC ID | HGNC:23300 |
| Aliases | FLJ10707, MVB12A, CGI-77 |
Description
MVB12A encodes a component of the ESCRT-I complex, which is involved in the sorting of ubiquitinated membrane proteins into multivesicular bodies (MVBs) for lysosomal degradation. The protein contains a conserved MABP domain and is essential for endosomal trafficking and receptor downregulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of ESCRT-I components may alter receptor trafficking and signaling, contributing to tumorigenesis. | COSMIC database reports somatic mutations in various cancers. |
| Neurodegenerative disorders | Impaired endosomal sorting may lead to accumulation of toxic protein aggregates. | Inferred from ESCRT-I pathway studies; limited direct evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional impact |
| p.Arg87Trp | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • endosome (GO:0005768) | • ESCRT I complex (GO:0000813) |
| • protein transport (GO:0015031) | • ubiquitin-dependent protein catabolic process (GO:0043162) |
Pathways
• ESCRT-I mediated endosomal sorting (Reactome: R-HSA-917729)
Protein Summary
MVB12A is a 273-amino acid protein (UniProt Q96EY5) that localizes to endosomes and functions as a subunit of the ESCRT-I complex. It contains a MABP domain that binds ubiquitin, facilitating the recognition and sorting of ubiquitinated cargo into intraluminal vesicles of MVBs. This process is critical for receptor downregulation and lysosomal degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MVB12A Knockout HEK293 Cell Line | EDJ-KQ1945 | Human | 93343 | Details Get a Quote |
| MVB12A Knockout HeLa Cell Line | EDJ-KQ20591 | Human | 93343 | Details Get a Quote |
| MVB12A Knockout A-549 Cell Line | EDJ-KQ21884 | Human | 93343 | Details Get a Quote |
| MVB12A Knockout HCT 116 Cell Line | EDJ-KQ21885 | Human | 93343 | Details Get a Quote |
