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Aliases for TBC1D8 Gene

Aliases for TBC1D8 Gene

  • TBC1 Domain Family, Member 8 (With GRAM Domain) 2 3
  • Vascular Rab-GAP/TBC-Containing Protein 2 3 4
  • BUB2-Like Protein 1 2 3
  • AD 3 3 4
  • VRP 3 4
  • TBC1 Domain Family, Member 8A 3
  • TBC1 Domain Family Member 8 3
  • TBC1D8A 3
  • HBLP1 3
  • AD3 3

External Ids for TBC1D8 Gene

Previous GeneCards Identifiers for TBC1D8 Gene

  • GC02M101228
  • GC02M101245
  • GC02M101082
  • GC02M100990
  • GC02M101622
  • GC02M095387

Summaries for TBC1D8 Gene

GeneCards Summary for TBC1D8 Gene

TBC1D8 (TBC1 Domain Family, Member 8 (With GRAM Domain)) is a Protein Coding gene. Among its related pathways are Cell cycle. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TBC1D30.

UniProtKB/Swiss-Prot for TBC1D8 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 TBC1D8 Gene

Genomics for TBC1D8 Gene

Regulatory Elements for TBC1D8 Gene

Genomic Location for TBC1D8 Gene

Start:
101,007,228 bp from pter
End:
101,252,866 bp from pter
Size:
245,639 bases
Orientation:
Minus strand

Genomic View for TBC1D8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D8 Gene

Proteins for TBC1D8 Gene

  • Protein details for TBC1D8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95759-TBCD8_HUMAN
    Recommended name:
    TBC1 domain family member 8
    Protein Accession:
    O95759
    Secondary Accessions:
    • A6NDL4
    • A8K9W1
    • B9A6K4
    • Q53SQ4
    • Q9UQ32

    Protein attributes for TBC1D8 Gene

    Size:
    1140 amino acids
    Molecular mass:
    130835 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAY14824.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAF85515.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D8 Gene

Proteomics data for TBC1D8 Gene at MOPED

Post-translational modifications for TBC1D8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D8 Gene

Domains for TBC1D8 Gene

Protein Domains for TBC1D8 Gene

Suggested Antigen Peptide Sequences for TBC1D8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95759

UniProtKB/Swiss-Prot:

TBCD8_HUMAN :
  • O95759
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
  • Contains 2 GRAM domains.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D8: view

No data available for Gene Families for TBC1D8 Gene

Function for TBC1D8 Gene

Molecular function for TBC1D8 Gene

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

Gene Ontology (GO) - Molecular Function for TBC1D8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005509 calcium ion binding --
genes like me logo Genes that share ontologies with TBC1D8: view

Phenotypes for TBC1D8 Gene

GenomeRNAi human phenotypes for TBC1D8:
genes like me logo Genes that share phenotypes with TBC1D8: view

miRNA for TBC1D8 Gene

miRTarBase miRNAs that target TBC1D8

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBC1D8 Gene

Localization for TBC1D8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D8 Gene COMPARTMENTS Subcellular localization image for TBC1D8 gene
Compartment Confidence
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TBC1D8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane TAS 10373574
genes like me logo Genes that share ontologies with TBC1D8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D8 Gene

Pathways for TBC1D8 Gene

SuperPathways for TBC1D8 Gene

Superpath Contained pathways
1 Cell cycle
genes like me logo Genes that share pathways with TBC1D8: view

Pathways by source for TBC1D8 Gene

1 BioSystems pathway for TBC1D8 Gene

Gene Ontology (GO) - Biological Process for TBC1D8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008015 blood circulation TAS 10373574
GO:0008284 positive regulation of cell proliferation TAS 10373574
GO:0043547 positive regulation of GTPase activity IEA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D8: view

Transcripts for TBC1D8 Gene

Unigene Clusters for TBC1D8 Gene

TBC1 domain family, member 8 (with GRAM domain):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D8 Gene

No ASD Table

Relevant External Links for TBC1D8 Gene

GeneLoc Exon Structure for
TBC1D8
ECgene alternative splicing isoforms for
TBC1D8

Expression for TBC1D8 Gene

mRNA expression in normal human tissues for TBC1D8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D8 Gene

This gene is overexpressed in Muscle - Skeletal (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D8 Gene

SOURCE GeneReport for Unigene cluster for TBC1D8 Gene Hs.442657

genes like me logo Genes that share expressions with TBC1D8: view

No data available for mRNA Expression by UniProt/SwissProt for TBC1D8 Gene

Orthologs for TBC1D8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TBC1D8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D8 35
  • 99.47 (n)
  • 99.47 (a)
TBC1D8 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D8 35
  • 87.9 (n)
  • 92.16 (a)
TBC1D8 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D8 35
  • 88.68 (n)
  • 93.15 (a)
TBC1D8 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d8 35
  • 87.08 (n)
  • 92.23 (a)
Tbc1d8 16
Tbc1d8 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D8 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D8 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d8 35
  • 86.98 (n)
  • 92.5 (a)
chicken
(Gallus gallus)
Aves TBC1D8 35
  • 76.26 (n)
  • 81.99 (a)
TBC1D8 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D8 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d8 35
  • 71.2 (n)
  • 76.06 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d8 35
  • 60.62 (n)
  • 55.98 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 36
  • 29 (a)
OneToMany
Species with no ortholog for TBC1D8:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D8 Gene

ENSEMBL:
Gene Tree for TBC1D8 (if available)
TreeFam:
Gene Tree for TBC1D8 (if available)

Paralogs for TBC1D8 Gene

Paralogs for TBC1D8 Gene

Selected SIMAP similar genes for TBC1D8 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TBC1D8: view

Variants for TBC1D8 Gene

Sequence variations from dbSNP and Humsavar for TBC1D8 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs700882 -- 101,114,935(-) ACCAG(A/G)GACCA intron-variant
rs732136 -- 101,123,769(-) CCTTT(A/C)TCATA intron-variant
rs746057 -- 101,091,905(+) AGTGT(A/G)AAGAA intron-variant
rs746975 -- 101,067,486(+) cactc(A/G)caggt intron-variant
rs753475 -- 101,031,404(+) TTAGG(A/C)CACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D8 Gene

Variant ID Type Subtype PubMed ID
nsv834316 CNV Gain 17160897
esv34123 CNV Loss 18971310
nsv519123 CNV Loss 19592680
nsv834317 CNV Loss 17160897
esv2720446 CNV Deletion 23290073

Relevant External Links for TBC1D8 Gene

HapMap Linkage Disequilibrium report
TBC1D8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D8 Gene

Disorders for TBC1D8 Gene

Relevant External Links for TBC1D8

Genetic Association Database (GAD)
TBC1D8
Human Genome Epidemiology (HuGE) Navigator
TBC1D8
genes like me logo Genes that share disorders with TBC1D8: view

No data available for UniProtKB/Swiss-Prot for TBC1D8 Gene

Publications for TBC1D8 Gene

  1. Antisense display -- a method for functional gene screening: evaluation in a cell-free system and isolation of angiogenesis-related genes. (PMID: 10373574) Yonekura H. … Yamamoto H. (Nucleic Acids Res. 1999) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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 4
  4. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. (PMID: 20548944) Hsu Y.H. … Kiel D.P. (PLoS Genet. 2010) 3 48
  5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 3

Products for TBC1D8 Gene

Sources for TBC1D8 Gene

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