Aliases for TBC1D8 Gene

Aliases for TBC1D8 Gene

  • TBC1 Domain Family Member 8 2 3 4 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 Summary for TBC1D8 Gene

Additional gene information for TBC1D8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D8 Gene

Genomics for TBC1D8 Gene

GeneHancer (GH) Regulatory Elements for TBC1D8 Gene

Promoters and enhancers for TBC1D8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D8

Top Transcription factor binding sites by QIAGEN in the TBC1D8 gene promoter:
  • aMEF-2
  • FOXO1
  • FOXO1a
  • FOXO4
  • MEF-2
  • MEF-2A
  • Pax-2
  • Pax-2a
  • Pax-2b
  • RORalpha1

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)
Size:
245,639 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for TBC1D8 Gene

Suggested Antigen Peptide Sequences for TBC1D8 Gene

GenScript: Design optimal peptide antigens:
  • Vascular Rab-GAP/TBC-containing protein (TBCD8_HUMAN)

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 Rab's 'switch 2' glutamine and insert in Rab's active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's 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 21873635
GO:0017137 Rab GTPase binding IBA 21873635
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
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
plasma membrane 0
peroxisome 0

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:0005623 cell IEA --
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

PathCards logo

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 21873635
GO:0008015 blood circulation TAS 10373574
GO:0008284 positive regulation of cell proliferation TAS 10373574
GO:0090630 activation of GTPase activity IBA 21873635
GO:1902017 NOT regulation of cilium assembly IMP 17646400
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

mRNA/cDNA for TBC1D8 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for TBC1D8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TBC1D8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D8 31 30
  • 88.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D8 31 30
  • 87.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d8 17 31 30
  • 87.08 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D8 31
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d8 30
  • 86.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D8 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D8 31 30
  • 76.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D8 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d8 30
  • 71.2 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d8 30
  • 60.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D8: view image

Paralogs for TBC1D8 Gene

Variants for TBC1D8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D8 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
713339 Benign: not provided 101,040,286(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
774833 Benign: not provided 101,008,064(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
777998 Benign: not provided 101,054,214(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs1057580 - p.Phe1073Leu
rs1062062 - p.Gly954Arg

Additional dbSNP identifiers (rs#s) for TBC1D8 Gene

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 54
  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 41 54
  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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for TBC1D8 Gene

Sources for TBC1D8 Gene