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    Tbc1d12 TBC1D12: TBC1 domain family, member 12 [ Mus musculus (house mouse) ]

    Gene ID: 209478, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Tbc1d12provided by MGI
    Official Full Name
    TBC1D12: TBC1 domain family, member 12provided by MGI
    Primary source
    MGI:MGI:2384803
    See related
    Ensembl:ENSMUSG00000048720 AllianceGenome:MGI:2384803
    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
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity; intracellular protein transport; and regulation of autophagosome assembly. Predicted to be located in endosome. Predicted to be active in autophagosome and recycling endosome. Orthologous to human TBC1D12 (TBC1 domain family member 12). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 4.1), ovary adult (RPKM 3.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    19 C3; 19 33.47 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (38825035..38908103)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (38836579..38919670)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene phospholipase C, epsilon 1 Neighboring gene adaptor protein complex AP-2, mu1 pseudogene Neighboring gene NOC3 like DNA replication regulator Neighboring gene STARR-seq mESC enhancer starr_46100 Neighboring gene STARR-seq mESC enhancer starr_46102 Neighboring gene helicase, lymphoid specific Neighboring gene STARR-seq mESC enhancer starr_46105 Neighboring gene cytochrome P450, family 2, subfamily c, polypeptide 52, pseudogene

    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. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895
    2. 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
    3. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC38216

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 12

    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_001362424.2 → NP_001349353.1  TBC1 domain family member 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC101775
      Consensus CDS
      CCDS89387.1
      UniProtKB/TrEMBL
      A0A494BA22, B7ZNA7
      Related
      ENSMUSP00000157901.2, ENSMUST00000235558.2
      Conserved Domains (1) summary
      pfam00566
      Location:392 → 560
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_145952.5 → NP_666064.3  TBC1 domain family member 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC101775
      Consensus CDS
      CCDS37975.1
      UniProtKB/Swiss-Prot
      B2RQS2, Q6A039
      UniProtKB/TrEMBL
      E9QQ68
      Related
      ENSMUSP00000037884.6, ENSMUST00000037302.6
      Conserved Domains (2) summary
      COG5210
      Location:304 → 639
      COG5210; GTPase-activating protein [General function prediction only]
      pfam00566
      Location:468 → 635
      RabGAP-TBC; Rab-GTPase-TBC domain

    RNA

    1. NR_175806.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC101775

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      38825035..38908103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6A039.2 GenPept UniProtKB/Swiss-Prot:Q6A039

    Gene LinkOut

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

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