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Aliases for TBC1D12 Gene

Aliases for TBC1D12 Gene

  • TBC1 Domain Family Member 12 2 3 5
  • TBC1 Domain Family, Member 12 2
  • KIAA0608 4

External Ids for TBC1D12 Gene

Previous GeneCards Identifiers for TBC1D12 Gene

  • GC10P095827
  • GC10P096152
  • GC10P089788

Summaries for TBC1D12 Gene

GeneCards Summary for TBC1D12 Gene

TBC1D12 (TBC1 Domain Family Member 12) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D14.

UniProtKB/Swiss-Prot for TBC1D12 Gene

  • May act as a GTPase-activating protein for Rab family protein(s).

Additional gene information for TBC1D12 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D12 Gene

Genomics for TBC1D12 Gene

GeneHancer (GH) Regulatory Elements for TBC1D12 Gene

Promoters and enhancers for TBC1D12 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I094401 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.8 809 3.5 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B TBC1D12 NOC3L HELLS PDE6C PIR44069
GH10I095286 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.5 +889.8 889785 11.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 IRF4 ZNF213 ZNF207 ZNF143 PDLIM1 TBC1D12 CYP2C8 ENTPD1 SORBS1 GC10M095392
GH10I095271 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.3 +874.7 874696 11.3 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 YY1 TCF12 PDLIM1 CYP2C8 TBC1D12 ACSM6 CYP2C18 TCTN3 GC10M095264 GC10M095235
GH10I094383 Enhancer 0.7 FANTOM5 ENCODE 5.2 -18.7 -18701 0.2 PKNOX1 MYC NOC3L TBC1D12
GH10I094370 Enhancer 0.3 FANTOM5 5.2 -31.7 -31713 0.1 TBC1D12 NOC3L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D12 gene promoter:

Genomic Locations for TBC1D12 Gene

Genomic Locations for TBC1D12 Gene
133,904 bases
Plus strand

Genomic View for TBC1D12 Gene

Genes around TBC1D12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D12 Gene

Proteins for TBC1D12 Gene

  • Protein details for TBC1D12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TBC1 domain family member 12
    Protein Accession:
    Secondary Accessions:
    • Q5VYA6
    • Q8WX26
    • Q8WX59
    • Q9UG83

    Protein attributes for TBC1D12 Gene

    775 amino acids
    Molecular mass:
    85626 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA25534.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB43225.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TBC1D12 Gene

Post-translational modifications for TBC1D12 Gene

No Post-translational modifications

Other Protein References for TBC1D12 Gene

No data available for DME Specific Peptides for TBC1D12 Gene

Domains & Families for TBC1D12 Gene

Gene Families for TBC1D12 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for TBC1D12 Gene

Suggested Antigen Peptide Sequences for TBC1D12 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D12: view

No data available for UniProtKB/Swiss-Prot for TBC1D12 Gene

Function for TBC1D12 Gene

Molecular function for TBC1D12 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s).

Phenotypes From GWAS Catalog for TBC1D12 Gene

Gene Ontology (GO) - Molecular Function for TBC1D12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D12: view

Phenotypes for TBC1D12 Gene

genes like me logo Genes that share phenotypes with TBC1D12: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D12 Gene

Localization for TBC1D12 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D12 gene
Compartment Confidence
endosome 4
nucleus 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005776 autophagosome IBA --
GO:0055037 recycling endosome IBA --
genes like me logo Genes that share ontologies with TBC1D12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D12 Gene

Pathways & Interactions for TBC1D12 Gene

SuperPathways for TBC1D12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
GO:2000785 regulation of autophagosome assembly IBA --
genes like me logo Genes that share ontologies with TBC1D12: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D12 Gene

Drugs & Compounds for TBC1D12 Gene

No Compound Related Data Available

Transcripts for TBC1D12 Gene

Unigene Clusters for TBC1D12 Gene

TBC1 domain family, member 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D12 Gene

No ASD Table

Relevant External Links for TBC1D12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBC1D12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D12 Gene

mRNA differential expression in normal tissues according to GTEx for TBC1D12 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.8).

Protein differential expression in normal tissues from HIPED for TBC1D12 Gene

This gene is overexpressed in Heart (57.1) and Testis (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBC1D12 Gene

Protein tissue co-expression partners for TBC1D12 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D12 Gene:


SOURCE GeneReport for Unigene cluster for TBC1D12 Gene:


Evidence on tissue expression from TISSUES for TBC1D12 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with TBC1D12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D12 Gene

Orthologs for TBC1D12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D12 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TBC1D12 33 34
  • 99.74 (n)
(Rattus norvegicus)
Mammalia LOC685933 33
  • 90.25 (n)
(Canis familiaris)
Mammalia TBC1D12 33 34
  • 90.21 (n)
(Bos Taurus)
Mammalia TBC1D12 33 34
  • 90.12 (n)
(Mus musculus)
Mammalia Tbc1d12 33 16 34
  • 85.24 (n)
(Gallus gallus)
Aves TBC1D12 33 34
  • 78.26 (n)
(Anolis carolinensis)
Reptilia TBC1D12 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d12 33
  • 76.72 (n)
(Danio rerio)
Actinopterygii tbc1d12a 34
  • 72 (a)
tbc1d12b 33 34
  • 67.94 (n)
(Caenorhabditis elegans)
Secernentea tbc-12 34
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYL1 34
  • 10 (a)
GYP5 34
  • 8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10585 34
  • 61 (a)
Species where no ortholog for TBC1D12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D12 Gene

Gene Tree for TBC1D12 (if available)
Gene Tree for TBC1D12 (if available)

Paralogs for TBC1D12 Gene

(1) SIMAP similar genes for TBC1D12 Gene using alignment to 2 proteins: Pseudogenes for TBC1D12 Gene

genes like me logo Genes that share paralogs with TBC1D12: view

Variants for TBC1D12 Gene

Sequence variations from dbSNP and Humsavar for TBC1D12 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000013155 -- 94,529,459(+) A/C genic_downstream_transcript_variant, intron_variant
rs1000023686 -- 94,469,196(+) A/G intron_variant
rs1000036331 -- 94,514,906(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000044128 -- 94,426,734(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000045445 -- 94,440,487(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D12 Gene

Variant ID Type Subtype PubMed ID
dgv1354n54 CNV loss 21841781
esv25061 CNV loss 19812545
esv2658991 CNV deletion 23128226
esv2664667 CNV deletion 23128226
esv2673369 CNV deletion 23128226
esv2739684 CNV deletion 23290073
esv2739696 CNV deletion 23290073
esv2761616 CNV gain 21179565
esv3546702 CNV deletion 23714750
esv4632 CNV loss 18987735
esv5036 CNV loss 18987735
nsv1127134 CNV deletion 24896259
nsv551947 CNV loss 21841781
nsv551948 CNV gain 21841781
nsv551949 CNV loss 21841781
nsv551950 CNV gain 21841781
nsv551952 CNV gain+loss 21841781
nsv831946 CNV loss 17160897

Variation tolerance for TBC1D12 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D12 Gene

Disorders for TBC1D12 Gene

Additional Disease Information for TBC1D12

No disorders were found for TBC1D12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D12 Gene

Publications for TBC1D12 Gene

  1. 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. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  3. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3 58
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  5. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 4 58

Products for TBC1D12 Gene

Sources for TBC1D12 Gene

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