2. Gene
  3. MVB12B - multivesicular body subunit 12B Gene

MVB12B - multivesicular body subunit 12B Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as C9orf28; FAM125B

Gene ID: 89853 | Gene type: protein coding

About MVB12B

This gene has 6 transcripts (splice variants) and 261 orthologues. Broad expression in brain (RPKM 8.1), lung (RPKM 5.2) and 23 other tissues.

Summary

The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

MVB12B Products(2)

mRNA Protein Name
NM_001011703.3 NP_001011703.1 multivesicular body subunit 12B isoform 2
NM_033446.3 NP_258257.1 multivesicular body subunit 12B isoform 1

MVB12B Protein Structure

DUF2464

DUF2464: Multivesicular body subunit 12 (48 - 299)

  • 0
  • 100
  • 200
  • 300
  • 319 a.a.
Protein Preferred Names Protein Names

multivesicular body subunit 12B

ESCRT-I complex subunit MVB12B

Related Diseases

Diseases Alias
Chronic Dacryocystitis
Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08855 MVB12B Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MVB12B RGD RGD:1309709
Felis catus MVB12B VGNC VGNC:63668
Bos taurus MVB12B VGNC VGNC:102829
Mus musculus MVB12B MGD MGI:1919793
Macaca mulatta MVB12B VGNC VGNC:75010
Canis familiaris MVB12B VGNC VGNC:43507