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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. Gene Ontology (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).

Additional gene information for TBC1D8B Gene

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

GeneHancer (GH) Regulatory Elements for TBC1D8B Gene

Promoters and enhancers for TBC1D8B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI106801 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 554.9 +0.2 202 1.8 ATF1 ARID4B SIN3A DMAP1 ETS1 ZNF766 GLIS2 ZNF143 SP3 RXRA TBC1D8B RNF128 CLDN2
GH0XI106725 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 11.5 -73.7 -73656 6.5 ELF3 FOXA2 ARID4B DMAP1 ZBTB40 ZNF48 RAD21 RARA YY1 ZNF335 RNF128 CXorf57 TBC1D8B GC0XM106712
GH0XI106927 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 3.7 +128.2 128186 7.7 ELF3 FOXA2 RAD21 YY1 FOS CREM EGR2 RXRA CEBPB ELF1 PIR48891 CLDN2 RIPPLY1 MYCLP1 TBC1D8B GC0XM106980 MORC4
GH0XI106779 Enhancer 0.6 ENCODE 8 -21.7 -21685 3.4 SCRT1 TFAP4 SAP130 HLF RAD21 HNF1A SCRT2 CEBPA HNF4G HNF4A TBC1D8B GC0XM106712 RNF128
GH0XI107723 Enhancer 0.8 Ensembl dbSUPER 5.8 +919.0 919021 0.2 REST DPF2 IRF4 IKZF1 WT1 IKZF2 TRIM28 SPI1 TSC22D3 TBC1D8B GC0XM107728 GC0XM107676
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D8B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D8B gene promoter:

Genomic Locations for TBC1D8B Gene

Genomic Locations for TBC1D8B Gene
73,471 bases
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:
    Recommended name:
    TBC1 domain family member 8B
    Protein Accession:
    Secondary Accessions:
    • B9A6K5
    • B9A6K6
    • Q5JRB7
    • Q6ZVX5
    • Q9NXE3

    Protein attributes for TBC1D8B Gene

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

    Alternative splice isoforms for TBC1D8B Gene


neXtProt entry for TBC1D8B Gene

Post-translational modifications for TBC1D8B Gene

No Post-translational modifications

No data available for DME Specific Peptides for TBC1D8B Gene

Domains & Families for TBC1D8B Gene

Gene Families for TBC1D8B Gene

Suggested Antigen Peptide Sequences for TBC1D8B Gene

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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).

Phenotypes From GWAS Catalog for TBC1D8B Gene

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

Clone 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

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:

Clone Products

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

No ASD Table

Relevant External Links for TBC1D8B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for TBC1D8B Gene:


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

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
(Pan troglodytes)
Mammalia TBC1D8B 33 34
  • 99.25 (n)
(Bos Taurus)
Mammalia -- 34
  • 95 (a)
-- 34
  • 85 (a)
(Canis familiaris)
Mammalia TBC1D8B 33 34
  • 91.99 (n)
(Rattus norvegicus)
Mammalia Tbc1d8b 33
  • 89.77 (n)
(Mus musculus)
Mammalia Tbc1d8b 33 16 34
  • 89.44 (n)
(Ornithorhynchus anatinus)
Mammalia TBC1D8B 34
  • 83 (a)
(Monodelphis domestica)
Mammalia TBC1D8B 34
  • 79 (a)
(Gallus gallus)
Aves TBC1D8B 33 34
  • 76.61 (n)
(Anolis carolinensis)
Reptilia TBC1D8B 34
  • 71 (a)
(Danio rerio)
Actinopterygii TBC1D8B 34
  • 64 (a)
si:dkey-110k5.6 33
  • 63.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4953 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 34
  • 33 (a)
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

Gene Tree for TBC1D8B (if available)
Gene Tree for TBC1D8B (if available)

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 Variation AA Info Type
rs483352744 uncertain-significance, not provided 106,822,144(+) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000108936 -- 106,860,601(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000109217 -- 106,820,304(+) G/T intron_variant
rs1000180502 -- 106,808,684(+) G/A/C intron_variant
rs1000226775 -- 106,847,300(+) T/A 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

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)

Additional Variant Information for TBC1D8B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for TBC1D8B Gene

Additional Disease Information for 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 to cells : devoted to molecular & cellular mechanisms 2009) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 2 3 58
  4. Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. (PMID: 23143602) Whitcomb DC … Devlin B (Nature genetics 2012) 3 58
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58

Products for TBC1D8B Gene

Sources for TBC1D8B Gene

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