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Aliases for TBC1D8B Gene

Aliases for TBC1D8B Gene

  • TBC1 Domain Family Member 8B 2 3 5
  • TBC1 Domain Family, Member 8B (With GRAM Domain) 2 3
  • RP11-321G1.1 3
  • GRAMD8B 3

External Ids for TBC1D8B Gene

Previous GeneCards Identifiers for TBC1D8B Gene

  • GC0XP105932
  • GC0XP106045
  • GC0XP095673

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) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is TBC1D8.

UniProtKB/Swiss-Prot for TBC1D8B Gene

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

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

Genomics for TBC1D8B Gene

Regulatory Elements for TBC1D8B Gene

Enhancers for TBC1D8B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG106725 0.9 ENCODE 11.5 -73.7 -73656 6.5 ELF3 TBP FOXA2 ARID4B DMAP1 ZBTB40 ZNF48 RAD21 RARA YY1 RNF128 CXorf57 TBC1D8B GC0XM106712
GH0XG106779 0.7 ENCODE 7.9 -21.7 -21685 3.4 SCRT1 TFAP4 SAP130 HLF ZNF10 CEBPB RAD21 HNF1A CEBPA SCRT2 TBC1D8B GC0XM106712
GH0XG107723 0.9 Ensembl dbSUPER 5.8 +919.0 919021 0.2 MAZ MTA2 DPF2 IKZF1 EED RELB WT1 IKZF2 SPI1 TSC22D3 TBC1D8B GC0XM107728 GC0XM107676
GH0XG106927 1.4 Ensembl ENCODE dbSUPER 3.7 +128.2 128187 7.7 ELF3 RAD21 YY1 GATA4 GATA2 FOS CREM EGR2 ZNF654 CEBPB RIPPLY1 MYCLP1 TBC1D8B PIR48891 GC0XM106980
GH0XG106801 0.9 ENCODE 4.9 +0.1 61 1.6 ATF1 NFIB ARID4B ZNF76 DEAF1 DMAP1 RARA ETS1 ZNF766 GLIS2 RNF128 TBC1D8B CLDN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D8B on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D8B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247810 221 1799 ATF1 NFIB ARID4B ZNF76 DEAF1 DMAP1 RARA ETS1 ZNF766 GLIS2

Genomic Location for TBC1D8B Gene

Chromosome:
X
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

Genes around TBC1D8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TBC1D8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D8B Gene

Domains & Families for TBC1D8B Gene

Gene Families for TBC1D8B Gene

Protein Domains for TBC1D8B Gene

Suggested Antigen Peptide Sequences for TBC1D8B Gene

Graphical View of Domain Structure for InterPro Entry

Q0IIM8

UniProtKB/Swiss-Prot:

TBC8B_HUMAN :
  • 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.
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.
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 IBA --
GO:0005509 calcium ion binding IEA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D8B: view
genes like me logo Genes that share phenotypes with TBC1D8B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D8B Gene

Localization for TBC1D8B Gene

Subcellular locations from

COMPARTMENTS
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 TBC1D8B gene
Compartment Confidence
cytosol 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TBC1D8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBC1D8B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D8B Gene

Pathways & Interactions for TBC1D8B Gene

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

Gene Ontology (GO) - Biological Process for TBC1D8B 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 --
genes like me logo Genes that share ontologies with TBC1D8B: view

No data available for SIGNOR curated interactions for TBC1D8B Gene

Drugs & Compounds for TBC1D8B Gene

No Compound Related Data Available

Transcripts for TBC1D8B Gene

Unigene Clusters for TBC1D8B Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.0).

Protein differential expression in normal tissues from HIPED for TBC1D8B Gene

This gene is overexpressed in Cerebrospinal fluid (44.2) and Bone (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D8B Gene



NURSA nuclear receptor signaling pathways regulating expression of TBC1D8B Gene:

TBC1D8B

SOURCE GeneReport for Unigene cluster for TBC1D8B Gene:

Hs.351798

Evidence on tissue expression from TISSUES for TBC1D8B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TBC1D8B: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D8B Gene

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 34 35
  • 99.25 (n)
cow
(Bos Taurus)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TBC1D8B 34 35
  • 91.99 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d8b 34
  • 89.77 (n)
mouse
(Mus musculus)
Mammalia Tbc1d8b 34 16 35
  • 89.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D8B 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D8B 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D8B 34 35
  • 76.61 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D8B 35
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii TBC1D8B 35
  • 64 (a)
OneToOne
si:dkey-110k5.6 34
  • 63.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4953 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 35
  • 33 (a)
OneToMany
Species where no ortholog for TBC1D8B 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)
  • 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

(9) 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
rs483352744 Uncertain significance 106,822,144(+) CAGGG(C/T)TGGCT nc-transcript-variant, reference, synonymous-codon
rs1000108936 -- 106,860,601(+) TGTCT(A/G)TTTGT intron-variant
rs1000109217 -- 106,820,304(+) CTACA(G/T)AATTT intron-variant
rs1000180502 -- 106,808,684(+) AAACA(A/C/G)TGCTT intron-variant
rs1000226775 -- 106,847,300(+) TGGCA(A/T)TGAAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2740375 CNV deletion 23290073
esv2752312 CNV gain 17911159

Variation tolerance for TBC1D8B Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.77; 33.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D8B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D8B Gene

Disorders for TBC1D8B Gene

Relevant External Links for TBC1D8B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D8B

No disorders were found for TBC1D8B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D8B Gene

Publications for TBC1D8B Gene

  1. 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 2 3 64
  4. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. (PMID: 23143602) Whitcomb D.C. … Devlin B. (Nat. Genet. 2012) 3 64
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard T.R. … Colinge J. (BMC Syst. Biol. 2011) 4 64

Products for TBC1D8B Gene

Sources for TBC1D8B Gene

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