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Mvb12b multivesicular body subunit 12B [ Mus musculus (house mouse) ]

Gene ID: 72543, updated on 5-Mar-2024

Summary

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Official Symbol
Mvb12bprovided by MGI
Official Full Name
multivesicular body subunit 12Bprovided by MGI
Primary source
MGI:MGI:1919793
See related
Ensembl:ENSMUSG00000038740 AllianceGenome:MGI:1919793
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fam125b; 2610200O14Rik; 2610528K11Rik
Summary
Predicted to enable lipid binding activity. Predicted to be involved in regulation of epidermal growth factor receptor signaling pathway; viral budding; and virus maturation. Predicted to act upstream of or within protein transport. Predicted to be located in several cellular components, including cytosol; early endosome; and nucleus. Predicted to be part of ESCRT I complex. Predicted to be active in late endosome. Is expressed in 2nd branchial arch and 3rd branchial pouch. Orthologous to human MVB12B (multivesicular body subunit 12B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 7.7), CNS E14 (RPKM 6.3) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
2 B; 2 22.51 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (33619965..33777958, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (33729953..33887946, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene LIM homeobox transcription factor 1 beta Neighboring gene Riken cDNA C130021I20 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:33544353-33544554 Neighboring gene RIKEN cDNA 9430024E24 gene Neighboring gene predicted gene, 52507 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:33672731-33672932 Neighboring gene predicted gene, 33856 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:33677308-33677491 Neighboring gene non-protein coding RNA, repressor of NFAT Neighboring gene VISTA enhancer mm716 Neighboring gene STARR-positive B cell enhancer mm9_chr2:33763748-33764049 Neighboring gene STARR-seq mESC enhancer starr_04250 Neighboring gene predicted gene, 39792 Neighboring gene STARR-positive B cell enhancer mm9_chr2:33789434-33789735 Neighboring gene predicted gene, 39793 Neighboring gene predicted gene 13403

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Intracellular bacteria engage a STING-TBK1-MVB12b pathway to enable paracrine cGAS-STING signalling. Nandakumar R, et al. Nat Microbiol, 2019 Apr. PMID 30804548, Free PMC Article
  2. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. Batsukh T, et al. PLoS One, 2012. PMID 23285124, Free PMC Article
  3. Gene expression profile of the third pharyngeal pouch reveals role of mesenchymal MafB in embryonic thymus development. Sultana DA, et al. Blood, 2009 Mar 26. PMID 19164599, Free PMC Article
  4. Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDnas identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Apr 30. PMID 15449545
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables lipid binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of epidermal growth factor receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in viral budding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in viral budding ISO
Inferred from Sequence Orthology
more info
  
involved_in virus maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in virus maturation ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of ESCRT I complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ESCRT I complex ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in late endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in vesicle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
multivesicular body subunit 12B
Names
ESCRT-I complex subunit MVB12B
family with sequence similarity 125, member B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_175184.4 → NP_780393.2  multivesicular body subunit 12B

    See identical proteins and their annotated locations for NP_780393.2

    Status: VALIDATED

    Source sequence(s)
    AL845360, BX649361
    Consensus CDS
    CCDS15946.1
    UniProtKB/Swiss-Prot
    A2ARF1, Q6KAU4, Q6PB42
    Related
    ENSMUSP00000048901.4, ENSMUST00000041555.10
    Conserved Domains (1) summary
    pfam10240
    Location:46 → 297
    DUF2464; Protein of unknown function (DUF2464)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    33619965..33777958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006498373.1 → XP_006498436.1  multivesicular body subunit 12B isoform X11

    Conserved Domains (1) summary
    pfam10240
    Location:47 → 222
    DUF2464; Multivesicular body subunit 12

  2. XM_006498370.1 → XP_006498433.1  multivesicular body subunit 12B isoform X5

    Conserved Domains (1) summary
    pfam10240
    Location:47 → 250
    DUF2464; Multivesicular body subunit 12

  3. XM_036162602.1 → XP_036018495.1  multivesicular body subunit 12B isoform X7

    UniProtKB/TrEMBL
    Q8C2W4
    Conserved Domains (1) summary
    pfam10240
    Location:17 → 268
    DUF2464; Multivesicular body subunit 12

  4. XM_036162603.1 → XP_036018496.1  multivesicular body subunit 12B isoform X7

    UniProtKB/TrEMBL
    Q8C2W4
    Conserved Domains (1) summary
    pfam10240
    Location:17 → 268
    DUF2464; Multivesicular body subunit 12

  5. XM_030252115.2 → XP_030107975.1  multivesicular body subunit 12B isoform X7

    UniProtKB/TrEMBL
    Q8C2W4
    Conserved Domains (1) summary
    pfam10240
    Location:17 → 268
    DUF2464; Multivesicular body subunit 12

  6. XM_011239194.2 → XP_011237496.1  multivesicular body subunit 12B isoform X10

    Conserved Domains (1) summary
    pfam10240
    Location:47 → 251
    DUF2464; Multivesicular body subunit 12

  7. XM_006498367.5 → XP_006498430.1  multivesicular body subunit 12B isoform X1

    Conserved Domains (1) summary
    pfam10240
    Location:47 → 250
    DUF2464; Multivesicular body subunit 12

  8. XM_030252114.2 → XP_030107974.1  multivesicular body subunit 12B isoform X3

    Conserved Domains (1) summary
    pfam10240
    Location:18 → 221
    DUF2464; Multivesicular body subunit 12

  9. XM_030252112.2 → XP_030107972.1  multivesicular body subunit 12B isoform X3

    Conserved Domains (1) summary
    pfam10240
    Location:18 → 221
    DUF2464; Multivesicular body subunit 12

  10. XM_030252113.2 → XP_030107973.1  multivesicular body subunit 12B isoform X3

    Conserved Domains (1) summary
    pfam10240
    Location:18 → 221
    DUF2464; Multivesicular body subunit 12

  11. XM_006498368.5 → XP_006498431.1  multivesicular body subunit 12B isoform X2

    Conserved Domains (1) summary
    pfam10240
    Location:39 → 242
    DUF2464; Multivesicular body subunit 12

  12. XM_006498372.1 → XP_006498435.1  multivesicular body subunit 12B isoform X9

    Conserved Domains (1) summary
    pfam10240
    Location:47 → 251
    DUF2464; Multivesicular body subunit 12

  13. XM_006498371.5 → XP_006498434.1  multivesicular body subunit 12B isoform X6

    Conserved Domains (1) summary
    pfam10240
    Location:18 → 222
    DUF2464; Multivesicular body subunit 12

  14. XM_006498369.4 → XP_006498432.1  multivesicular body subunit 12B isoform X4

    Conserved Domains (1) summary
    pfam10240
    Location:47 → 251
    DUF2464; Multivesicular body subunit 12

  15. XM_036162605.1 → XP_036018498.1  multivesicular body subunit 12B isoform X8

    Conserved Domains (1) summary
    pfam10240
    Location:46 → 251
    DUF2464; Multivesicular body subunit 12
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6KAU4.2 GenPept UniProtKB/Swiss-Prot:Q6KAU4

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