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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 (Multivesicular Body Subunit 12B) is a Protein Coding gene. Diseases associated with MVB12B include Glaucoma, Primary Open Angle. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and ubiquitin binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 20654576 |
GO:0008289 | lipid binding | IMP | 22232651 |
GO:0043130 | NOT ubiquitin binding | IDA | 20654576 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000813 | ESCRT I complex | IEA,IDA | 18005716 |
GO:0005634 | nucleus | IDA | 22232651 |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IDA | 22232651 |
GO:0005770 | late endosome | IBA,IDA | 22232651 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015031 | protein transport | IEA | -- |
GO:0016197 | endosomal transport | TAS | -- |
GO:0019058 | viral life cycle | TAS | -- |
GO:0019075 | virus maturation | IBA,IMP | 18005716 |
GO:0042058 | regulation of epidermal growth factor receptor signaling pathway | IBA,IMP | 20654576 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MVB12B 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MVB12B 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MVB12B 31 |
|
OneToOne | |
FAM125B 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | MVB12B 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Mvb12b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mvb12b 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MVB12B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM125B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MVB12B 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32390 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.19086 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mvb12ba 30 31 |
|
OneToMany | |
mvb12bb 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7192 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mvb-12 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10662 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs62640044 | Benign: not provided | 126,503,221(+) |
C/T NM_033446.3(MVB12B):c.918C>T (p.Leu306=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4139n106 | CNV | deletion | 24896259 |
esv1001649 | CNV | deletion | 20482838 |
esv1602146 | CNV | deletion | 17803354 |
esv24101 | CNV | gain+loss | 19812545 |
esv2628133 | CNV | deletion | 19546169 |
esv2677987 | CNV | deletion | 23128226 |
esv26981 | CNV | loss | 19812545 |
esv27320 | CNV | loss | 19812545 |
esv3621766 | CNV | gain | 21293372 |
esv3621767 | CNV | loss | 21293372 |
nsv1049646 | CNV | gain | 25217958 |
nsv1076205 | CNV | deletion | 25765185 |
nsv466563 | CNV | loss | 19166990 |
nsv509322 | CNV | insertion | 20534489 |
nsv516074 | CNV | loss | 19592680 |
nsv521117 | CNV | loss | 19592680 |
nsv528672 | CNV | gain | 19592680 |
nsv615311 | CNV | loss | 21841781 |
nsv951763 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glaucoma, primary open angle |
|
|