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Aliases for TBC1D12 Gene

Aliases for TBC1D12 Gene

  • TBC1 Domain Family, Member 12 2 3
  • 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. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is RABGAP1L.

UniProtKB/Swiss-Prot for TBC1D12 Gene

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

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

Genomics for TBC1D12 Gene

Regulatory Elements for TBC1D12 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TBC1D12 Gene

Chromosome:
10
Start:
94,402,429 bp from pter
End:
94,536,332 bp from pter
Size:
133,904 bases
Orientation:
Plus strand

Genomic View for TBC1D12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    O60347-TBC12_HUMAN
    Recommended name:
    TBC1 domain family member 12
    Protein Accession:
    O60347
    Secondary Accessions:
    • Q5VYA6
    • Q8WX26
    • Q8WX59
    • Q9UG83

    Protein attributes for TBC1D12 Gene

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

neXtProt entry for TBC1D12 Gene

Proteomics data for TBC1D12 Gene at MOPED

Post-translational modifications for TBC1D12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D12 Gene

Domains & Families for TBC1D12 Gene

Protein Domains for TBC1D12 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D12 Gene

Graphical View of Domain Structure for InterPro Entry

O60347

UniProtKB/Swiss-Prot:

TBC12_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D12: view

No data available for Gene Families 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)

Gene Ontology (GO) - Molecular Function for TBC1D12 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D12

In Situ Assay Products

Flow Cytometry Products

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

Localization for TBC1D12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D12 Gene COMPARTMENTS Subcellular localization image for TBC1D12 gene
Compartment Confidence
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TBC1D12 Gene

Pathways & Interactions for TBC1D12 Gene

SuperPathways for TBC1D12 Gene

No Data Available

Interacting Proteins for TBC1D12 Gene

Gene Ontology (GO) - Biological Process for TBC1D12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBC1D12

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TBC1D12 Gene

GeneLoc Exon Structure for
TBC1D12
ECgene alternative splicing isoforms for
TBC1D12

Expression for TBC1D12 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for TBC1D12 Gene Hs.500598

genes like me logo Genes that share expression patterns with TBC1D12: view

Protein tissue co-expression partners for TBC1D12 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia TBC1D12 35
  • 90.12 (n)
  • 89.33 (a)
TBC1D12 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D12 35
  • 90.21 (n)
  • 88.34 (a)
TBC1D12 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d12 35
  • 85.24 (n)
  • 85.53 (a)
Tbc1d12 16
Tbc1d12 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBC1D12 35
  • 99.74 (n)
  • 100 (a)
TBC1D12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC685933 35
  • 90.25 (n)
  • 97.16 (a)
chicken
(Gallus gallus)
Aves TBC1D12 35
  • 78.26 (n)
  • 81.61 (a)
TBC1D12 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D12 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d12 35
  • 76.72 (n)
  • 82.59 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d12b 35
  • 67.94 (n)
  • 74.9 (a)
tbc1d12a 36
  • 72 (a)
OneToMany
tbc1d12b 36
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-12 36
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYL1 36
  • 10 (a)
ManyToMany
GYP5 36
  • 8 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10585 36
  • 61 (a)
OneToMany
Species with no ortholog for TBC1D12:
  • 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

ENSEMBL:
Gene Tree for TBC1D12 (if available)
TreeFam:
Gene Tree for TBC1D12 (if available)

Paralogs for TBC1D12 Gene

Paralogs for TBC1D12 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type MAF
rs480032 -- 94,411,349(+) AGACC(A/G)TGAGT intron-variant
rs493088 -- 94,405,117(-) AAAAA(A/G)AAGAA intron-variant
rs494059 -- 94,405,007(-) gtgca(A/T)gggct intron-variant
rs517784 -- 94,414,215(-) TACTT(C/T)CTTCC intron-variant
rs556055 -- 94,410,836(+) CTTGG(A/G)CAAAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831946 CNV Loss 17160897
esv25061 CNV Loss 19812545
esv5036 CNV Deletion 18987735
esv2673369 CNV Deletion 23128226
esv2739684 CNV Deletion 23290073
esv4632 CNV Deletion 18987735
esv2739696 CNV Deletion 23290073
esv2658991 CNV Deletion 23128226
esv2664667 CNV Deletion 23128226

Variation tolerance for TBC1D12 Gene

Residual Variation Intolerance Score: 23.29% 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)

Relevant External Links for TBC1D12 Gene

HapMap Linkage Disequilibrium report
TBC1D12

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

Disorders for TBC1D12 Gene

Relevant External Links for TBC1D12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D12
genes like me logo Genes that share disorders with TBC1D12: view

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 Res. 1998) 2 67
  2. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 67
  3. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PMID: 19690332) Mayya V. … Han D.K. (Sci. Signal. 2009) 67
  4. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 67
  5. A quantitative atlas of mitotic phosphorylation. (PMID: 18669648) Dephoure N. … Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008) 67

Products for TBC1D12 Gene

Sources for TBC1D12 Gene

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