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Aliases for MVB12B Gene

Aliases for MVB12B Gene

  • Multivesicular Body Subunit 12B 2 3 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

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 1, Open Angle, E. Among its related pathways are Endocytosis. GO annotations related to this gene include lipid binding and ubiquitin binding. An important paralog of this gene is MVB12A.

UniProtKB/Swiss-Prot 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.

Additional gene information for MVB12B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MVB12B Gene

Genomics for MVB12B Gene

Regulatory Elements for MVB12B Gene

Enhancers for MVB12B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H126371 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +48.1 48084 6 ELF3 FOXA2 MLX ZFP64 ARID4B DMAP1 DNMT3B RARA MIXL1 EGR2 MVB12B ENSG00000252985 NRON
GH09H126468 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +144.2 144180 4.9 CBFB NR2F1 MAX CEBPG DPF2 REST GABPA POLR2A EED IKZF1 MVB12B ENSG00000252985 ZBTB34 LOC105376276
GH09H126473 1.1 Ensembl ENCODE dbSUPER 23.5 +147.9 147930 2.3 ZFHX2 JUND JUN FOS ZNF600 ATF2 MVB12B LOC105376276 ENSG00000252985
GH09H126436 1.8 VISTA dbSUPER 14.2 +110.4 110447 2.3 MVB12B ENSG00000252985 LOC105376276
GH09H126429 1.4 dbSUPER 17.5 +104.5 104466 3.8 MXI1 POLR2A MVB12B ENSG00000252985 LOC105376276
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MVB12B on UCSC Golden Path with GeneCards custom track

Promoters for MVB12B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241526 -44 1201 GTF2F1 CTCF MXI1 MAX DMAP1 ZNF644 KMT2B TEAD3 HIC1 ZNF600

Genomic Locations for MVB12B Gene

Genomic Locations for MVB12B Gene
chr9:126,326,844-126,507,041
(GRCh38/hg38)
Size:
180,198 bases
Orientation:
Plus strand
chr9:129,089,128-129,269,320
(GRCh37/hg19)

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 posLast=115115
  • 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:

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 18005716
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

Clone Products

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
extracellular 5
nucleus 5
cytosol 5
endosome 5
mitochondrion 1

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 IDA 18005716
GO:0005634 nucleus IDA 22232651
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 22232651
GO:0005770 late endosome IDA 22232651
genes like me logo Genes that share ontologies with MVB12B: view

Pathways & Interactions for MVB12B Gene

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:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport TAS --
GO:0019058 viral life cycle TAS --
GO:0019075 virus maturation IMP 18005716
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

Unigene Clusters for MVB12B Gene

Multivesicular body subunit 12B:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
MVB12B

Expression for MVB12B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MVB12B Gene



NURSA nuclear receptor signaling pathways regulating expression of MVB12B Gene:

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

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 34
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MVB12B 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MVB12B 34
  • 95 (a)
OneToOne
FAM125B 33
  • 94.18 (n)
cow
(Bos Taurus)
Mammalia MVB12B 33
  • 92.58 (n)
rat
(Rattus norvegicus)
Mammalia Mvb12b 33
  • 89.8 (n)
mouse
(Mus musculus)
Mammalia Mvb12b 33 16 34
  • 89.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MVB12B 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM125B 33 34
  • 79.67 (n)
lizard
(Anolis carolinensis)
Reptilia MVB12B 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19086 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32390 33
zebrafish
(Danio rerio)
Actinopterygii mvb12ba 33 34
  • 72.62 (n)
mvb12bb 34
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7192 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mvb-12 33 34
  • 42.95 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10662 34
  • 30 (a)
OneToMany
Species where no ortholog for MVB12B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MVB12B Gene

Paralogs for MVB12B Gene

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

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

Variants for MVB12B Gene

Sequence variations from dbSNP and Humsavar for MVB12B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000007826 -- 126,474,197(+) GTTCC(C/T)AGCTC intron-variant
rs1000023111 -- 126,412,572(+) TTCCC(C/G)TAGTT intron-variant
rs1000049354 -- 126,364,477(+) CCAGG(G/T)CAGAG intron-variant
rs1000053605 -- 126,466,600(+) AAAGA(A/T)GACTT intron-variant
rs1000092095 -- 126,406,911(+) AAAAC(C/T)CCCAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv951763 CNV deletion 24416366
nsv615311 CNV loss 21841781
nsv528672 CNV gain 19592680
nsv521117 CNV loss 19592680
nsv516074 CNV loss 19592680
nsv509322 CNV insertion 20534489
nsv466563 CNV loss 19166990
nsv1076205 CNV deletion 25765185
nsv1049646 CNV gain 25217958
esv3621767 CNV loss 21293372
esv3621766 CNV gain 21293372
esv27320 CNV loss 19812545
esv26981 CNV loss 19812545
esv2677987 CNV deletion 23128226
esv2628133 CNV deletion 19546169
esv24101 CNV gain+loss 19812545
esv1602146 CNV deletion 17803354
esv1001649 CNV deletion 20482838
dgv4139n106 CNV deletion 24896259

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)

Relevant External Links for MVB12B Gene

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

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: DISEASES

Disorder Aliases PubMed IDs
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MVB12B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for MVB12B Gene

Sources for MVB12B Gene

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