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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

Summaries for TBC1D12 Gene

GeneCards Summary for TBC1D12 Gene

TBC1D12 (TBC1 Domain Family, Member 12) is a Protein Coding gene. 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

Genomic Location for TBC1D12 Gene

Start:
94,402,199 bp from pter
End:
94,536,332 bp from pter
Size:
134,134 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

Regulatory Elements 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 for TBC1D12 Gene

Protein Domains for TBC1D12 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TBC12_HUMAN
Domain:
  • Contains 1 Rab-GAP TBC domain.:
    • O60347
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

miRNA for TBC1D12 Gene

miRTarBase miRNAs that target TBC1D12

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
cytosol 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for TBC1D12 Gene

Pathways 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 for TBC1D12 Gene

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
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) (6.8).

Integrated Proteomics: protein expression 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 expressions with TBC1D12: view

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
chimpanzee
(Pan troglodytes)
Mammalia TBC1D12 36
  • 99.74 (n)
  • 100 (a)
TBC1D12 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D12 36
  • 90.12 (n)
  • 89.33 (a)
TBC1D12 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D12 36
  • 90.21 (n)
  • 88.34 (a)
TBC1D12 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d12 36
  • 85.24 (n)
  • 85.53 (a)
Tbc1d12 16
Tbc1d12 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC685933 36
  • 90.25 (n)
  • 97.16 (a)
chicken
(Gallus gallus)
Aves TBC1D12 36
  • 78.26 (n)
  • 81.61 (a)
TBC1D12 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D12 37
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d12 36
  • 76.72 (n)
  • 82.59 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d12a 37
  • 72 (a)
OneToMany
tbc1d12b 36
  • 67.94 (n)
  • 74.9 (a)
tbc1d12b 37
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-12 37
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYL1 37
  • 10 (a)
ManyToMany
GYP5 37
  • 8 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10585 37
  • 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

Selected 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

Relevant External Links for TBC1D12 Gene

HapMap Linkage Disequilibrium report
TBC1D12

Disorders for TBC1D12 Gene

No disorders were found for TBC1D12 Gene.

No data available for UniProtKB/Swiss-Prot 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 3 4
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  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) 3
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4

Products for TBC1D12 Gene

Sources for TBC1D12 Gene

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