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... See more...

Aliases for MVB12B Gene

Aliases for MVB12B Gene

  • Multivesicular Body Subunit 12B 2 3 4 5
  • Family With Sequence Similarity 125, Member B 2 3
  • ESCRT-I Complex Subunit MVB12B 3 4
  • C9orf28 3 4
  • FAM125B 3 4
  • Chromosome 9 Open Reading Frame 28 2
  • Protein FAM125B 4
  • FLJ00001 2
  • MVB12B 5

External Ids for MVB12B Gene

Previous HGNC Symbols for MVB12B Gene

  • C9orf28
  • FAM125B

Previous GeneCards Identifiers for MVB12B Gene

  • GC09P129091

Summaries for MVB12B Gene

Entrez Gene Summary for MVB12B Gene

  • 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]

GeneCards Summary for MVB12B Gene

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.

UniProtKB/Swiss-Prot Summary for MVB12B Gene

  • Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MVB12B Gene

Genomics for MVB12B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MVB12B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J126325 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 261 +0.3 275 3.2 VEZF1 GABPB1 MAZ ZBTB48 MAX ZNF189 CTCF HBP1 TAF1 BHLHE40 MVB12B HSALNG0074438 ZBTB43 ENSG00000252985 piR-41195-127 LMX1B
GH09J126371 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 21.4 +48.1 48098 6 CEBPA ZIC2 FOXA2 SMAD4 SAP130 MIER3 KMT2B GABPB1 RARA TEAD3 MVB12B ENSG00000252985 ZBTB34 RF00017-7912 RF00017-7913 LMX1B
GH09J126388 Enhancer 1.2 Ensembl ENCODE dbSUPER 22.2 +67.0 66971 10.8 BCL11A DEK CTCF ZIC2 REST IRF4 TRIM22 RXRA MIER3 EBF1 MVB12B ENSG00000252985 RF00017-7913 NRON LMX1B
GH09J126468 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 21.8 +144.2 144194 4.9 GABPA EBF1 CBFB BHLHE40 POLR2A MYC MAX NFATC1 REST IKZF1 MVB12B ENSG00000252985 ZBTB34 lnc-ANGPTL2-3 LMX1B
GH09J126366 Enhancer 0.9 Ensembl ENCODE dbSUPER 23 +40.0 39990 2.8 CTCF CEBPG ATF4 ZFP36 ZNF768 CEBPB ATF3 RAD21 ATF7 KLF4 MVB12B ENSG00000252985 RF00017-7912 piR-41195-127 LMX1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MVB12B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MVB12B

Genomic Locations for MVB12B Gene

Latest Assembly
chr9:126,326,829-126,507,041
(GRCh38/hg38)
Size:
180,213 bases
Orientation:
Plus strand

Previous Assembly
chr9:129,089,108-129,269,319
(GRCh37/hg19 by Entrez Gene)
Size:
180,212 bases
Orientation:
Plus strand

chr9:129,089,128-129,269,320
(GRCh37/hg19 by Ensembl)
Size:
180,193 bases
Orientation:
Plus strand

Genomic View for MVB12B Gene

Genes around MVB12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MVB12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MVB12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MVB12B Gene

Proteins for MVB12B Gene

  • Protein details for MVB12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H7P6-MB12B_HUMAN
    Recommended name:
    Multivesicular body subunit 12B
    Protein Accession:
    Q9H7P6
    Secondary Accessions:
    • Q8N6S7

    Protein attributes for MVB12B Gene

    Size:
    319 amino acids
    Molecular mass:
    35620 Da
    Quaternary structure:
    • Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry. Interacts with TSG101; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS28. Interacts with VPS37B; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37C; the association appears to be mediated by the TSG101-VPS37 binary subcomplex.
    SequenceCaution:
    • Sequence=BAB15722.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MVB12B Gene

    Alternative splice isoforms for MVB12B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MVB12B Gene

Post-translational modifications for MVB12B Gene

  • Ubiquitination at Lys115
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MVB12B Gene

Domains & Families for MVB12B Gene

Gene Families for MVB12B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MVB12B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MVB12B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55114 (B7Z4X0_HUMAN)
  • Protein FAM125B (F125B_HUMAN)
  • FLJ00001 protein (Q9NXY4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H7P6

UniProtKB/Swiss-Prot:

MB12B_HUMAN :
  • Belongs to the MVB12 family.
Family:
  • Belongs to the MVB12 family.
genes like me logo Genes that share domains with MVB12B: view

Function for MVB12B Gene

Molecular function for MVB12B Gene

UniProtKB/Swiss-Prot Function:
Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies.

Phenotypes From GWAS Catalog for MVB12B Gene

Gene Ontology (GO) - Molecular Function for MVB12B Gene

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
genes like me logo Genes that share ontologies with MVB12B: view
genes like me logo Genes that share phenotypes with MVB12B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MVB12B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MVB12B Gene

Localization for MVB12B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MVB12B Gene

Endosome. Late endosome membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MVB12B gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
cytosol 5
extracellular 4
cytoskeleton 1
lysosome 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MVB12B Gene

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
genes like me logo Genes that share ontologies with MVB12B: view

Pathways & Interactions for MVB12B Gene

PathCards logo

SuperPathways for MVB12B Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with MVB12B: view

Pathways by source for MVB12B Gene

1 KEGG pathway for MVB12B Gene

Gene Ontology (GO) - Biological Process for MVB12B Gene

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
genes like me logo Genes that share ontologies with MVB12B: view

No data available for SIGNOR curated interactions for MVB12B Gene

Drugs & Compounds for MVB12B Gene

No Compound Related Data Available

Transcripts for MVB12B Gene

mRNA/cDNA for MVB12B Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MVB12B

Alternative Splicing Database (ASD) splice patterns (SP) for MVB12B Gene

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:

Relevant External Links for MVB12B Gene

GeneLoc Exon Structure for
MVB12B

Expression for MVB12B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MVB12B Gene

mRNA differential expression in normal tissues according to GTEx for MVB12B Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.1) and Brain - Substantia nigra (x4.0).

Protein differential expression in normal tissues from HIPED for MVB12B Gene

This gene is overexpressed in Serum (52.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MVB12B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MVB12B

SOURCE GeneReport for Unigene cluster for MVB12B Gene:

Hs.162659

Evidence on tissue expression from TISSUES for MVB12B Gene

  • Nervous system(4.9)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with MVB12B: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MVB12B Gene

Orthologs for MVB12B Gene

This gene was present in the common ancestor of animals.

Orthologs for MVB12B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MVB12B 31
  • 100 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MVB12B 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MVB12B 31
  • 95 (a)
OneToOne
FAM125B 30
  • 94.18 (n)
Cow
(Bos Taurus)
Mammalia MVB12B 30
  • 92.58 (n)
Rat
(Rattus norvegicus)
Mammalia Mvb12b 30
  • 89.8 (n)
Mouse
(Mus musculus)
Mammalia Mvb12b 30 17 31
  • 89.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MVB12B 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM125B 30 31
  • 79.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MVB12B 31
  • 81 (a)
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
  • 72.62 (n)
OneToMany
mvb12bb 31
  • 45 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG7192 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mvb-12 30 31
  • 42.95 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10662 31
  • 30 (a)
OneToMany
Species where no ortholog for MVB12B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MVB12B Gene

ENSEMBL:
Gene Tree for MVB12B (if available)
TreeFam:
Gene Tree for MVB12B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MVB12B: view image

Paralogs for MVB12B Gene

(2) SIMAP similar genes for MVB12B Gene using alignment to 4 proteins:

  • MB12B_HUMAN
  • B7Z4X0_HUMAN
  • F8W922_HUMAN
  • G8JLL7_HUMAN
genes like me logo Genes that share paralogs with MVB12B: view

No data available for Paralogs for MVB12B Gene

Variants for MVB12B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MVB12B Gene

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MVB12B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MVB12B Gene

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

Variation tolerance for MVB12B Gene

Residual Variation Intolerance Score: 19.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MVB12B Gene

Human Gene Mutation Database (HGMD)
MVB12B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MVB12B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MVB12B Gene

Disorders for MVB12B Gene

MalaCards: The human disease database

(1) MalaCards diseases for MVB12B Gene - From: COP

Disorder Aliases PubMed IDs
glaucoma, primary open angle
  • poag
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MVB12B

genes like me logo Genes that share disorders with MVB12B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MVB12B Gene

Publications for MVB12B Gene

  1. Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding. (PMID: 18005716) Morita E … Sundquist WI (Cell host & microbe 2007) 2 3 4
  2. Structural basis for membrane targeting by the MVB12-associated β-prism domain of the human ESCRT-I MVB12 subunit. (PMID: 22232651) Boura E … Hurley JH (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3
  3. Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. (PMID: 20654576) Tsunematsu T … Konishi H (Biochemical and biophysical research communications 2010) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for MVB12B Gene

Sources for MVB12B Gene