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Tbc1d2 Gene Detail
Summary
  • Symbol
    Tbc1d2
  • Name
    TBC1 domain family, member 2
  • Synonyms
    A630005A06Rik, LOC381605, PARIS-1, PARIS1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2652885
    NCBI Gene: 381605
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:46604390-46650209 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 25.04 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1533 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2652885
 protein coding gene Chr4:46604390-46650396 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028262
 protein coding gene Chr4:44923493-44972836 (-)
A/J MGP_AJ_G0028221
 protein coding gene Chr4:43262606-43307680 (-)
AKR/J MGP_AKRJ_G0028171
 protein coding gene Chr4:44330835-44378727 (-)
BALB/cJ MGP_BALBcJ_G0028241
 protein coding gene Chr4:43371761-43417749 (-)
C3H/HeJ MGP_C3HHeJ_G0027962
 protein coding gene Chr4:44930794-44976572 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028682
 protein coding gene Chr4:46592420-46642228 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025991
 protein coding gene Chr4:40641624-40686084 (-)
CAST/EiJ MGP_CASTEiJ_G0027401
 protein coding gene Chr4:44495441-44541773 (-)
CBA/J MGP_CBAJ_G0027928
 protein coding gene Chr4:48074398-48120000 (-)
DBA/2J MGP_DBA2J_G0028078
 protein coding gene Chr4:43160865-43207000 (-)
FVB/NJ MGP_FVBNJ_G0028045
 protein coding gene Chr4:42416590-42463977 (-)
LP/J MGP_LPJ_G0028177
 protein coding gene Chr4:44979567-45028032 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028069
 protein coding gene Chr4:51138896-51188256 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028717
 protein coding gene Chr4:44554835-44601753 (-)
PWK/PhJ MGP_PWKPhJ_G0027126
 protein coding gene Chr4:43260027-43306105 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026954
 protein coding gene Chr4:44051534-44099438 (-)
WSB/EiJ MGP_WSBEiJ_G0027479
 protein coding gene Chr4:44467467-44515945 (-)



Homology
more
  • Human Ortholog
    TBC1D2, TBC1 domain family member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TBC1D2, TBC1 domain family member 2
  • Synonyms
    PARIS-1, PARIS1, TBC1D2A
  • Links
    NCBI Gene ID: 55357
    neXtProt AC: NX_Q9BYX2
    UniProt: Q9BYX2

  • Chr Location
    9q22.33; chr9:98198998-98255649 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    9 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • 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
    706
  • cDNA Data
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039813 Ensembl Gene Model | MGI Sequence Detail 45820 C57BL/6J ±  kb
    transcript ENSMUST00000084621 Ensembl | MGI Sequence Detail 4315 Not Applicable  
    polypeptide ENSMUSP00000081670 Ensembl | MGI Sequence Detail 922 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 2
      cDNA 14

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2685883
    References
    more
    • Summaries
      All 33
      Gene Ontology 5
      Phenotypes 9
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • 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