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Tbc1d32 Gene Detail
Summary
  • Symbol
    Tbc1d32
  • Name
    TBC1 domain family, member 32
  • Synonyms
    b2b2284Clo, Bromi, C6orf170, D630037F22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442827
    NCBI Gene: 544696
Location & Maps
more
  • Sequence Map
    Chr10:56014298-56228689 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      214392 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 28.45 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TBC1D32, TBC1 domain family member 32
  • Vertebrate Orthologs
    8
  • Human Ortholog
    TBC1D32, TBC1 domain family member 32
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA301B7.2, bA57L9.1, BROMI, C6orf170, C6orf171, dJ310J6.1
  • Links
    NCBI Gene ID: 221322
    neXtProt AC: NX_Q96NH3

  • Chr Location
    6q22.31; chr6:121079494-121334956 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Tbc1d32 mouse models

Human Disease Mouse Models
       Vater/Vacterl Association   OMIM: 192350 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 5 alleles in 6 genetic backgrounds
    73 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    4
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Radiation induced
    1
  • Genomic Mutations
    2 involving Tbc1d32
  • Incidental Mutations
Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000038122 Ensembl Gene Model | MGI Sequence Detail 214392 C57BL/6J ±  kb
transcript ENSMUST00000099739 Ensembl | MGI Sequence Detail 7235 Not Applicable  
polypeptide ENSMUSP00000097328 Ensembl | MGI Sequence Detail 1296 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1303 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • InterPro Domains
    IPR032735 Protein broad-minded
    IPR000195 Rab-GTPase-TBC domain
Molecular
Reagents
less
  • All nucleic 20
    cDNA 20

    Microarray probesets 2
Other
Accession IDs
less
MGI:5491171
References
more
  • Summaries
    All 24
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 3
    Phenotypes 13
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory