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Aliases for TBC1D8B Gene

Aliases for TBC1D8B Gene

  • TBC1 Domain Family, Member 8B (With GRAM Domain) 2 3
  • TBC1 Domain Family Member 8B 3
  • RP11-321G1.1 3

External Ids for TBC1D8B Gene

Summaries for TBC1D8B Gene

Entrez Gene Summary for TBC1D8B Gene

  • This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

GeneCards Summary for TBC1D8B Gene

TBC1D8B (TBC1 Domain Family, Member 8B (With GRAM Domain)) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TBC1D30.

UniProtKB/Swiss-Prot for TBC1D8B Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D8B Gene

Genomics for TBC1D8B Gene

Genomic Location for TBC1D8B Gene

Start:
106,802,680 bp from pter
End:
106,876,150 bp from pter
Size:
73,471 bases
Orientation:
Plus strand

Genomic View for TBC1D8B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBC1D8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D8B Gene

Regulatory Elements for TBC1D8B Gene

Proteins for TBC1D8B Gene

  • Protein details for TBC1D8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0IIM8-TBC8B_HUMAN
    Recommended name:
    TBC1 domain family member 8B
    Protein Accession:
    Q0IIM8
    Secondary Accessions:
    • B9A6K5
    • B9A6K6
    • Q5JRB7
    • Q6ZVX5
    • Q9NXE3

    Protein attributes for TBC1D8B Gene

    Size:
    1120 amino acids
    Molecular mass:
    128709 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91071.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D8B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D8B Gene

Proteomics data for TBC1D8B Gene at MOPED

Post-translational modifications for TBC1D8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D8B Gene

No data available for DME Specific Peptides for TBC1D8B Gene

Domains for TBC1D8B Gene

Gene Families for TBC1D8B Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for TBC1D8B Gene

UniProtKB/Swiss-Prot:

TBC8B_HUMAN
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.:
    • Q0IIM8
  • Contains 1 EF-hand domain.:
    • Q0IIM8
  • Contains 2 GRAM domains.:
    • Q0IIM8
  • Contains 1 Rab-GAP TBC domain.:
    • Q0IIM8
genes like me logo Genes that share domains with TBC1D8B: view

Function for TBC1D8B Gene

Molecular function for TBC1D8B Gene

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

Gene Ontology (GO) - Molecular Function for TBC1D8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with TBC1D8B: view

miRNA for TBC1D8B Gene

miRTarBase miRNAs that target TBC1D8B

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBC1D8B Gene

Localization for TBC1D8B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D8B Gene COMPARTMENTS Subcellular localization image for TBC1D8B gene
Compartment Confidence
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for TBC1D8B Gene

Pathways for TBC1D8B Gene

genes like me logo Genes that share pathways with TBC1D8B: view

Interacting Proteins for TBC1D8B Gene

Gene Ontology (GO) - Biological Process for TBC1D8B 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 TBC1D8B: view

Transcripts for TBC1D8B Gene

Unigene Clusters for TBC1D8B Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D8B Gene

No ASD Table

Relevant External Links for TBC1D8B Gene

GeneLoc Exon Structure for
TBC1D8B
ECgene alternative splicing isoforms for
TBC1D8B

Expression for TBC1D8B Gene

mRNA expression in normal human tissues for TBC1D8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D8B Gene

This gene is overexpressed in Adrenal Gland (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D8B Gene

SOURCE GeneReport for Unigene cluster for TBC1D8B Gene Hs.351798

genes like me logo Genes that share expressions with TBC1D8B: view

Orthologs for TBC1D8B Gene

This gene was present in the common ancestor of chordates.

Orthologs for TBC1D8B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D8B 36
  • 99.25 (n)
  • 99.22 (a)
TBC1D8B 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 95 (a)
OneToMany
-- 37
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TBC1D8B 36
  • 91.99 (n)
  • 90.8 (a)
TBC1D8B 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d8b 36
  • 89.44 (n)
  • 91.02 (a)
Tbc1d8b 16
Tbc1d8b 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D8B 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D8B 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d8b 36
  • 89.77 (n)
  • 90.61 (a)
chicken
(Gallus gallus)
Aves TBC1D8B 36
  • 76.61 (n)
  • 79.27 (a)
TBC1D8B 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D8B 37
  • 71 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4953 36
zebrafish
(Danio rerio)
Actinopterygii si:dkey-110k5.6 36
  • 63.89 (n)
  • 68.04 (a)
TBC1D8B 37
  • 64 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 37
  • 33 (a)
OneToMany
Species with no ortholog for TBC1D8B:
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TBC1D8B Gene

ENSEMBL:
Gene Tree for TBC1D8B (if available)
TreeFam:
Gene Tree for TBC1D8B (if available)

Paralogs for TBC1D8B Gene

Paralogs for TBC1D8B Gene

Selected SIMAP similar genes for TBC1D8B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TBC1D8B: view

Variants for TBC1D8B Gene

Sequence variations from dbSNP and Humsavar for TBC1D8B Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1937301 -- 106,820,219(-) CTAGT(C/T)GCTTT intron-variant
rs1937302 -- 106,841,310(-) AAGCC(G/T)TCTCT intron-variant
rs1937303 -- 106,841,309(-) AGCCT(C/T)CTCTG intron-variant
rs1937304 -- 106,833,900(+) TGTAA(C/T)TCCTC intron-variant
rs2226245 -- 106,824,512(+) CAGTA(G/T)GCATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D8B Gene

Variant ID Type Subtype PubMed ID
esv2752312 CNV Gain 17911159
esv2740375 CNV Deletion 23290073

Relevant External Links for TBC1D8B Gene

HapMap Linkage Disequilibrium report
TBC1D8B
Locus Specific Mutation Databases (LSDB)
TBC1D8B

Disorders for TBC1D8B Gene

No disorders were found for TBC1D8B Gene.

No data available for UniProtKB/Swiss-Prot for TBC1D8B Gene

Publications for TBC1D8B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. 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
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 2 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PMID: 8125298) Maruyama K. … Sugano S. (Gene 1994) 3

Products for TBC1D8B Gene

Sources for TBC1D8B Gene

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