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Mvb12a Gene Detail
Summary
  • Symbol
    Mvb12a
  • Name
    multivesicular body subunit 12A
  • Synonyms
    1110012M11Rik, Fam125a
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920961
    NCBI Gene: 73711
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:71995552-72000670 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 34.43 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    178 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920961
 protein coding gene Chr8:71995552-72000729 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033752
 protein coding gene Chr8:71956478-71961373 (+)
A/J MGP_AJ_G0033735
 protein coding gene Chr8:69015432-69020837 (+)
AKR/J MGP_AKRJ_G0033661
 protein coding gene Chr8:71054220-71059097 (+)
BALB/cJ MGP_BALBcJ_G0033731
 protein coding gene Chr8:69190187-69195073 (+)
C3H/HeJ MGP_C3HHeJ_G0033441
 protein coding gene Chr8:71635550-71640434 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034249
 protein coding gene Chr8:74688032-74693128 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031191
 protein coding gene Chr8:63653122-63657970 (+)
CAST/EiJ MGP_CASTEiJ_G0032766
 protein coding gene Chr8:71095099-71102004 (+)
CBA/J MGP_CBAJ_G0033419
 protein coding gene Chr8:77339478-77344362 (+)
DBA/2J MGP_DBA2J_G0033573
 protein coding gene Chr8:68746823-68751709 (+)
FVB/NJ MGP_FVBNJ_G0033515
 protein coding gene Chr8:67831916-67836809 (+)
LP/J MGP_LPJ_G0033660
 protein coding gene Chr8:71926127-71931016 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033562
 protein coding gene Chr8:79883014-79888040 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034266
 protein coding gene Chr8:71120776-71125673 (+)
PWK/PhJ MGP_PWKPhJ_G0032473
 protein coding gene Chr8:68026459-68031626 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032310
 protein coding gene Chr8:70061283-70066160 (+)
WSB/EiJ MGP_WSBEiJ_G0032882
 protein coding gene Chr8:71464936-71471976 (+)



Homology
more
  • Human Ortholog
    MVB12A, multivesicular body subunit 12A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MVB12A, multivesicular body subunit 12A
  • Synonyms
    CFBP, FAM125A
  • Links
    NCBI Gene ID: 93343
    neXtProt AC: NX_Q96EY5
    UniProt: Q96EY5

  • Chr Location
    19p13.11; chr19:17405722-17433724 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Mvb12a
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
    14 strains or lines available
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    708
  • Tissues
    2
  • cDNA Data
    68
  • Literature Summary
    1
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 73711 NCBI Gene Model | MGI Sequence Detail 5119 C57BL/6J ±  kb
transcript NM_028617 RefSeq | MGI Sequence Detail 1077 CZECHII  
polypeptide Q78HU3 UniProt | EBI | MGI Sequence Detail 271 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 68
    cDNA 68

    Microarray probesets 5
References
more
  • Summaries
    All 31
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory