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    Tbc1d2 TBC1 domain family, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 381605, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Tbc1d2provided by MGI
    Official Full Name
    TBC1 domain family, member 2provided by MGI
    Primary source
    MGI:MGI:2652885
    See related
    Ensembl:ENSMUSG00000039813 AllianceGenome:MGI:2652885
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm1037; PARIS1; PARIS-1; A630005A06Rik
    Summary
    Predicted to enable GTPase activator activity and cadherin binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm. Orthologous to human TBC1D2 (TBC1 domain family member 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in colon adult (RPKM 17.6), bladder adult (RPKM 7.1) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 B1; 4 25.04 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (46604390..46650396, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (46604390..46650340, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 14 Neighboring gene STARR-positive B cell enhancer ABC_E4623 Neighboring gene predicted gene, 16731 Neighboring gene coronin, actin binding protein 2A Neighboring gene STARR-positive B cell enhancer ABC_E3489 Neighboring gene STARR-positive B cell enhancer ABC_E3490 Neighboring gene STARR-positive B cell enhancer ABC_E6173 Neighboring gene STARR-positive B cell enhancer ABC_E2111 Neighboring gene predicted gene, 54221 Neighboring gene predicted gene, 54222 Neighboring gene predicted gene, 31850 Neighboring gene predicted gene, 42281 Neighboring gene STARR-seq mESC enhancer starr_10135 Neighboring gene gamma-aminobutyric acid type B receptor subunit 2 Neighboring gene predicted gene, 32208 Neighboring gene predicted gene, 32135

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Vps34 regulates Rab7 and late endocytic trafficking through recruitment of the GTPase-activating protein Armus. Jaber N, et al. J Cell Sci, 2016 Dec 1. PMID 27793976, Free PMC Article
    2. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    3. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Vps34 has a previously unknown role in regulating Rab7 activity and late endosomal trafficking.
      Title: Vps34 regulates Rab7 and late endocytic trafficking through recruitment of the GTPase-activating protein Armus.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cadherin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 2A
    Names
    likely ortholog of H. sapiens TBC1 domain family, member 2 (TBC1D2)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_198664.3 → NP_941066.3  TBC1 domain family member 2A

      See identical proteins and their annotated locations for NP_941066.3

      Status: VALIDATED

      Source sequence(s)
      AL683884, BX571848, BX682536
      Consensus CDS
      CCDS18155.1
      UniProtKB/Swiss-Prot
      B1AVH7, Q3UFW9, Q8BYB1
      Related
      ENSMUSP00000081670.6, ENSMUST00000084621.12
      Conserved Domains (3) summary
      smart00164
      Location:619 → 831
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01265
      Location:45 → 146
      PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
      pfam00169
      Location:45 → 138
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      46604390..46650396 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538047.5 → XP_006538110.1  TBC1 domain family member 2A isoform X2

      Conserved Domains (4) summary
      smart00164
      Location:620 → 832
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG4913
      Location:300 → 565
      COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]
      PRK14951
      Location:192 → 404
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      cd01265
      Location:45 → 146
      PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain

    2. XM_006538046.5 → XP_006538109.1  TBC1 domain family member 2A isoform X1

      Conserved Domains (4) summary
      smart00164
      Location:620 → 832
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG4913
      Location:300 → 565
      COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]
      PRK14951
      Location:192 → 404
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      cd01265
      Location:45 → 146
      PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain

    3. XM_036164218.1 → XP_036020111.1  TBC1 domain family member 2A isoform X3

      Conserved Domains (2) summary
      smart00164
      Location:399 → 611
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG4913
      Location:79 → 319
      COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]

    4. XM_030253640.1 → XP_030109500.1  TBC1 domain family member 2A isoform X4

      Conserved Domains (1) summary
      smart00164
      Location:163 → 375
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    5. XM_006538050.2 → XP_006538113.1  TBC1 domain family member 2A isoform X5

      Conserved Domains (3) summary
      smart00164
      Location:475 → 687
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      COG4913
      Location:155 → 395
      COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]
      pfam15730
      Location:84 → 151
      DUF4680; Domain of unknown function (DUF4680)

    6. XM_006538049.1 → XP_006538112.1  TBC1 domain family member 2A isoform X4

      Conserved Domains (1) summary
      smart00164
      Location:163 → 375
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B1AVH7.1 GenPept UniProtKB/Swiss-Prot:B1AVH7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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