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TBC1D12 TBC1 domain family member 12 [ Homo sapiens (human) ]

Gene ID: 23232, updated on 2-Nov-2024

Summary

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Official Symbol
TBC1D12provided by HGNC
Official Full Name
TBC1 domain family member 12provided by HGNC
Primary source
HGNC:HGNC:29082
See related
Ensembl:ENSG00000108239 MIM:620003; AllianceGenome:HGNC:29082
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable GTPase activator activity. Predicted to be involved in regulation of autophagosome assembly. Predicted to be located in endosome. Predicted to be active in autophagosome and recycling endosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 6.6), testis (RPKM 5.3) and 25 other tissues See more
Orthologs
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Genomic context

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See TBC1D12 in Genome Data Viewer
Location:
10q23.33
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (94402541..94536332)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (95281536..95415444)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96162298..96296089)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phospholipase C epsilon 1 Neighboring gene PLCE1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96117703-96118368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96118369-96119034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2633 Neighboring gene MPRA-validated peak1050 silencer Neighboring gene NOC3 like DNA replication regulator Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:96140095-96141294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96304601-96305225 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96305226-96305850 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96305851-96306474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96335135-96335636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:96335637-96336136 Neighboring gene MPRA-validated peak1052 silencer Neighboring gene helicase, lymphoid specific Neighboring gene NANOG hESC enhancer GRCh37_chr10:96386128-96386629 Neighboring gene CTBP2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. Ishibashi K, et al. Genes Cells, 2009 Jan. PMID 19077034
  2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
  3. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
  4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
  5. Reciprocal interaction between SIRT6 and APC/C regulates genomic stability. Wang H, et al. Sci Rep, 2021 Jul 9. PMID 34244565, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10339, FLJ12820, KIAA0608

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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
  
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_015188.2 → NP_056003.1  TBC1 domain family member 12

    See identical proteins and their annotated locations for NP_056003.1

    Status: VALIDATED

    Source sequence(s)
    AB011180, AL138759, DA808973
    Consensus CDS
    CCDS41553.1
    UniProtKB/Swiss-Prot
    O60347, Q5VYA6, Q8WX26, Q8WX59, Q9UG83
    UniProtKB/TrEMBL
    B9A6L3
    Related
    ENSP00000225235.4, ENST00000225235.5
    Conserved Domains (1) summary
    smart00164
    Location:481 → 712
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    94402541..94536332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717732.5 → XP_006717795.2  TBC1 domain family member 12 isoform X1

    UniProtKB/TrEMBL
    B9A6L3
    Conserved Domains (1) summary
    pfam00566
    Location:487 → 685
    RabGAP-TBC; Rab-GTPase-TBC domain

  2. XM_011539558.4 → XP_011537860.1  TBC1 domain family member 12 isoform X4

    Conserved Domains (1) summary
    smart00164
    Location:179 → 410
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. XM_047424905.1 → XP_047280861.1  TBC1 domain family member 12 isoform X2

  4. XM_047424906.1 → XP_047280862.1  TBC1 domain family member 12 isoform X3

  5. XM_017015999.3 → XP_016871488.1  TBC1 domain family member 12 isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:58 → 289
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  6. XM_047424907.1 → XP_047280863.1  TBC1 domain family member 12 isoform X5

  7. XM_017015998.3 → XP_016871487.1  TBC1 domain family member 12 isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:58 → 289
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. XR_945637.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    95281536..95415444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365343.1 → XP_054221318.1  TBC1 domain family member 12 isoform X4

  2. XM_054365340.1 → XP_054221315.1  TBC1 domain family member 12 isoform X1

  3. XM_054365341.1 → XP_054221316.1  TBC1 domain family member 12 isoform X2

  4. XM_054365342.1 → XP_054221317.1  TBC1 domain family member 12 isoform X3

  5. XM_054365346.1 → XP_054221321.1  TBC1 domain family member 12 isoform X5

  6. XM_054365345.1 → XP_054221320.1  TBC1 domain family member 12 isoform X5

  7. XM_054365344.1 → XP_054221319.1  TBC1 domain family member 12 isoform X5

RNA

  1. XR_008488185.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60347.3 GenPept UniProtKB/Swiss-Prot:O60347

Gene LinkOut

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