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Tbc1d20 Gene Detail
Summary
  • Symbol
    Tbc1d20
  • Name
    TBC1 domain family, member 20
  • Synonyms
    1110028I04Rik, 2810442O16Rik, bs
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914481
    NCBI Gene: 67231
Location & Maps
more
  • Sequence Map
    Chr2:152293828-152313996 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20169 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 74.83 cM, cytoband H1
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    TBC1D20, TBC1 domain family member 20
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TBC1D20, TBC1 domain family member 20
    Orthology source: HomoloGene
  • Synonyms
    C20orf140, WARBM4
  • Links
    NCBI Gene ID: 128637
    neXtProt AC: NX_Q96BZ9

  • Chr Location
    20p13; chr20:435477-462553 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Tbc1d20 mouse models; 1 with human TBC1D20 associations

Human Disease Mouse Models
       Warburg Micro Syndrome 4; WARBM4   OMIM: 615663 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
    23 phenotypes from 1 allele in 2 genetic backgrounds
    1 images
    12 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
    4
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Spontaneous
    1
  • Genomic Mutations
    2 involving Tbc1d20
  • Incidental Mutations
Homozygous mutants have bilateral cataracts, small eyes, glossy coats, and are male sterile.
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015833 VEGA Gene Model | MGI Sequence Detail 20169 C57BL/6J ±  kb
transcript OTTMUST00000037640 VEGA | MGI Sequence Detail 3386 Not Applicable  
polypeptide OTTMUSP00000016876 VEGA | MGI Sequence Detail 402 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    59 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000016104 TBC1 domain family member 20
  • InterPro Domains
    IPR000195 Rab-GTPase-TBC domain
Molecular
Reagents
less
  • All nucleic 16
    cDNA 16

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-1673, MGI:1923567, MGI:2138929, MGI:88207
References
more
  • Summaries
    All 32
    Diseases 1
    Gene Ontology 4
    Phenotypes 12
  • Earliest
    J:7104 Varnum DS, Blind-sterile: a new mutation on chromosome 2 of the house mouse. J Hered. 1983 May-Jun;74(3):206-7
  • Latest
    J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory