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Aliases for TBC1D8 Gene

Aliases for TBC1D8 Gene

  • TBC1 Domain Family Member 8 2 3 5
  • Vascular Rab-GAP/TBC-Containing Protein 2 3 4
  • TBC1 Domain Family, Member 8 (With GRAM Domain) 2 3
  • BUB2-Like Protein 1 2 3
  • VRP 3 4
  • TBC1 Domain Family, Member 8A 3
  • TBC1D8A 3
  • GRAMD8 3
  • HBLP1 3
  • AD 3 4
  • 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) is a Protein Coding gene. Among its related pathways are Cell cycle. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is TBC1D8B.

UniProtKB/Swiss-Prot for TBC1D8 Gene

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

Additional gene information for TBC1D8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D8 Gene

Genomics for TBC1D8 Gene

GeneHancer (GH) Regulatory Elements for TBC1D8 Gene

Promoters and enhancers for TBC1D8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I101250 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.2 -159 4.1 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B TBC1D8 CNOT11 SNORD89 RNF149 LOC105373511
GH02I101108 Enhancer 1.8 VISTA Ensembl ENCODE dbSUPER 6.4 +137.4 137444 13.4 PKNOX1 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 LOC101927142 TBC1D8-AS1 TBC1D8 IL1R2 SNORD89 GC02P101093
GH02I101148 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 6 +101.9 101886 5.2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 IRF4 SLC30A9 ZNF143 SP3 SP5 TBC1D8-AS1 LOC101927142 SNORD89 TBC1D8 GC02P101093
GH02I101122 Enhancer 1.4 Ensembl ENCODE dbSUPER 6.3 +126.8 126756 6.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 BRCA1 ETS1 LOC101927142 TBC1D8-AS1 IL1R2 TBC1D8 SNORD89 GC02P101093
GH02I102032 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -781.0 -781007 2.8 HDGF CLOCK FOXA2 MLX ZFP64 ARID4B ZNF48 ETS1 ZNF766 ZNF143 IL1R2 IL1R1 IL1RL2 ENSG00000226925 IL18RAP TBC1D8 MAP4K4 IL18R1 GC02P101903
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D8 gene promoter:

Genomic Locations for TBC1D8 Gene

Genomic Locations for TBC1D8 Gene
chr2:101,007,228-101,252,866
(GRCh38/hg38)
Size:
245,639 bases
Orientation:
Minus strand
chr2:101,623,690-101,869,328
(GRCh37/hg19)

Genomic View for TBC1D8 Gene

Genes around TBC1D8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for TBC1D8 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TBC1D8 Gene

Domains & Families for TBC1D8 Gene

Gene Families for TBC1D8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 :
  • 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 TBC1D8: view

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).

Phenotypes From GWAS Catalog for TBC1D8 Gene

Gene Ontology (GO) - Molecular Function for TBC1D8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D8: view
genes like me logo Genes that share phenotypes with TBC1D8: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D8 Gene

Localization for TBC1D8 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 TBC1D8 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0012505 endomembrane system IBA --
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 & Interactions for TBC1D8 Gene

SuperPathways for TBC1D8 Gene

SuperPathway 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:0006886 intracellular protein transport IBA --
GO:0008015 blood circulation TAS 10373574
GO:0008284 positive regulation of cell proliferation TAS 10373574
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D8: view

No data available for SIGNOR curated interactions for TBC1D8 Gene

Drugs & Compounds for TBC1D8 Gene

No Compound Related Data Available

Transcripts for TBC1D8 Gene

Unigene Clusters for TBC1D8 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.2).

Protein differential expression in normal tissues from HIPED for TBC1D8 Gene

This gene is overexpressed in Ovary (21.6), Testis (16.3), Monocytes (8.2), and Islet of Langerhans (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D8 Gene



NURSA nuclear receptor signaling pathways regulating expression of TBC1D8 Gene:

TBC1D8

SOURCE GeneReport for Unigene cluster for TBC1D8 Gene:

Hs.442657

Evidence on tissue expression from TISSUES for TBC1D8 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TBC1D8: 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 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 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia TBC1D8 33 34
  • 88.68 (n)
cow
(Bos Taurus)
Mammalia TBC1D8 33 34
  • 87.9 (n)
mouse
(Mus musculus)
Mammalia Tbc1d8 33 16 34
  • 87.08 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D8 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d8 33
  • 86.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D8 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D8 33 34
  • 76.26 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D8 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d8 33
  • 71.2 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d8 33
  • 60.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 34
  • 29 (a)
OneToMany
Species where no ortholog for TBC1D8 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)
  • 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

(9) 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 Variation AA Info Type
rs1000007869 -- 101,077,477(-) C/G intron_variant
rs1000023275 -- 101,091,581(-) T/A intron_variant
rs1000050592 -- 101,034,313(-) T/G intron_variant
rs1000057499 -- 101,132,359(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000080641 -- 101,056,249(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv2720446 CNV deletion 23290073
esv34123 CNV loss 18971310
esv3591762 CNV loss 21293372
nsv1133480 CNV deletion 24896259
nsv519123 CNV loss 19592680
nsv834316 CNV gain 17160897
nsv834317 CNV loss 17160897

Variation tolerance for TBC1D8 Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.83; 86.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D8 Gene

Human Gene Mutation Database (HGMD)
TBC1D8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D8

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

Disorders for TBC1D8 Gene

Additional Disease Information for TBC1D8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for TBC1D8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 research 1999) 2 3 4 58
  2. 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 YH … Kiel DP (PLoS genetics 2010) 3 44 58
  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 to cells : devoted to molecular & cellular mechanisms 2009) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for TBC1D8 Gene

Sources for TBC1D8 Gene

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