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Tbc1d4 Gene Detail
Summary
  • Symbol
    Tbc1d4
  • Name
    TBC1 domain family, member 4
  • Synonyms
    5930406J04Rik, AS160
  • Feature Type
    protein coding gene
  • IDs
    MGI:2429660
    NCBI Gene: 210789
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:101679796-101846627 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 50.90 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5819 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2429660
 protein coding gene Chr14:101679796-101846717 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021621
 protein coding gene Chr14:97850710-98031791 (-)
A/J MGP_AJ_G0021579
 protein coding gene Chr14:94666395-94833028 (-)
AKR/J MGP_AKRJ_G0021555
 protein coding gene Chr14:97464208-97636309 (-)
BALB/cJ MGP_BALBcJ_G0021585
 protein coding gene Chr14:95002715-95167814 (-)
C3H/HeJ MGP_C3HHeJ_G0021363
 protein coding gene Chr14:97366838-97548275 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022025
 protein coding gene Chr14:101798591-101985734 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019565
 protein coding gene Chr14:91612851-91775240 (-)
CAST/EiJ MGP_CASTEiJ_G0020880
 protein coding gene Chr14:94699075-94869827 (-)
CBA/J MGP_CBAJ_G0021331
 protein coding gene Chr14:105567066-105733120 (-)
DBA/2J MGP_DBA2J_G0021455
 protein coding gene Chr14:94140839-94318494 (-)
FVB/NJ MGP_FVBNJ_G0021432
 protein coding gene Chr14:93141939-93310798 (-)
LP/J MGP_LPJ_G0021523
 protein coding gene Chr14:98649052-98820747 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021459
 protein coding gene Chr14:108295774-108479968 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022048
 protein coding gene Chr14:96970105-97149880 (-)
PWK/PhJ MGP_PWKPhJ_G0020623
 protein coding gene Chr14:91152696-91326089 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020461
 protein coding gene Chr14:92999159-93182309 (-)
WSB/EiJ MGP_WSBEiJ_G0020933
 protein coding gene Chr14:97621418-97806223 (-)



Homology
more
  • Human Ortholog
    TBC1D4, TBC1 domain family member 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBC1D4, TBC1 domain family member 4
  • Synonyms
    AS160, NIDDM5
  • Links
    NCBI Gene ID: 9882
    neXtProt AC: NX_O60343
    UniProt: O60343

  • Chr Location
    13q22.2; chr13:75283503-75482169 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TBC1D4 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    32 phenotypes from 4 alleles in 5 genetic backgrounds
    26 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.
Mice homozygous for a null allele exhibit reduced blood glucose levels under both fasted and fed conditions, insulin resistance in both muscle and liver, decreased energy expenditure and oxygen consumption, abnormal adipocyte and muscle cell glucose uptake, and increased hepatic gluconeogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    6
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
    740
  • Tissues
    28
  • cDNA Data
    54
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033083 Ensembl Gene Model | MGI Sequence Detail 166832 C57BL/6J ±  kb
    transcript ENSMUST00000162617 Ensembl | MGI Sequence Detail 4762 Not Applicable  
    polypeptide ENSMUSP00000124909 Ensembl | MGI Sequence Detail 1306 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000016118 TBC1 domain family member 4
      (term hierarchy)
    • InterPro Domains
      IPR051133 Adapter and Engulfment Domain-Containing Protein
      IPR021785 Domain of unknown function DUF3350
      IPR011993 PH-like domain superfamily
      IPR006020 PTB/PI domain
      IPR000195 Rab-GAP-TBC domain
      IPR035969 Rab-GAP-TBC domain superfamily
      IPR050302 Rab GTPase-activating TBC domain-containing protein
    • GlyGen
      Q8BYJ6 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 56
      cDNA 55
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2442592, MGI:3034398
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 4
      Gene Ontology 6
      Phenotypes 26
    • Earliest
      J:74603 Kurihara LJ, et al., Candidate genes required for embryonic development: a comparative analysis of distal mouse chromosome 14 and human chromosome 13q22. Genomics. 2002 Feb;79(2):154-61
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
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    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