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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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See Tbc1d12 in Genome Data Viewer
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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