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Aliases for TBC1D9 Gene

Aliases for TBC1D9 Gene

  • TBC1 Domain Family Member 9 2 3 5
  • TBC1 Domain Family, Member 9 (With GRAM Domain) 2 3
  • TBC1 Domain Family Member 9A 3 4
  • KIAA0882 4
  • TBC1D9A 4
  • GRAMD9 3
  • MDR1 3

External Ids for TBC1D9 Gene

Previous GeneCards Identifiers for TBC1D9 Gene

  • GC04M141900
  • GC04M141761
  • GC04M141541
  • GC04M137272

Summaries for TBC1D9 Gene

GeneCards Summary for TBC1D9 Gene

TBC1D9 (TBC1 Domain Family Member 9) is a Protein Coding gene. Diseases associated with TBC1D9 include Osteochondrosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is TBC1D9B.

UniProtKB/Swiss-Prot for TBC1D9 Gene

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

Gene Wiki entry for TBC1D9 Gene

Additional gene information for TBC1D9 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D9 Gene

Genomics for TBC1D9 Gene

GeneHancer (GH) Regulatory Elements for TBC1D9 Gene

Promoters and enhancers for TBC1D9 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
GH04I140753 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 567.3 +0.2 210 4.3 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF213 SP3 KAT8 TBC1D9 ENSG00000273472 GC04P140757 ENSG00000248335 UCP1
GH04I140717 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 34.7 +36.5 36544 5.2 JUN NR2F1 ZC3H11A ZNF384 EBF1 DPF2 IRF4 ZNF781 RFX5 JUND TBC1D9 MAML3 ELMOD2 TNRC18P1 UCP1 ENSG00000248335
GH04I140725 Enhancer 1.4 Ensembl ENCODE dbSUPER 29 +28.3 28307 5.5 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 ETS1 ATF7 FOS TBC1D9 UCP1 ENSG00000248335
GH04I140789 Enhancer 1.2 FANTOM5 Ensembl ENCODE 23.9 -34.3 -34277 3 BACH1 EBF1 BMI1 BATF IRF4 RELA NFATC1 ETV6 BCLAF1 IKZF2 TBC1D9 ENSG00000248335 ZNF330 GC04P140802 ENSG00000222613
GH04I140739 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.8 +13.8 13835 5.6 ELF3 PKNOX1 FOXA2 SIN3A IRF4 RAD21 RARA ZNF335 ZNF366 ZSCAN5C TBC1D9 ENSG00000248335
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D9 gene promoter:

Genomic Locations for TBC1D9 Gene

Genomic Locations for TBC1D9 Gene
chr4:140,620,765-140,756,317
(GRCh38/hg38)
Size:
135,553 bases
Orientation:
Minus strand
chr4:141,541,919-141,677,471
(GRCh37/hg19)

Genomic View for TBC1D9 Gene

Genes around TBC1D9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D9 Gene

Proteins for TBC1D9 Gene

  • Protein details for TBC1D9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZT07-TBCD9_HUMAN
    Recommended name:
    TBC1 domain family member 9
    Protein Accession:
    Q6ZT07
    Secondary Accessions:
    • A6H8U8
    • D3DNZ1
    • O94958

    Protein attributes for TBC1D9 Gene

    Size:
    1266 amino acids
    Molecular mass:
    143229 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA74905.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86789.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC86789.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

neXtProt entry for TBC1D9 Gene

Post-translational modifications for TBC1D9 Gene

  • Ubiquitination at posLast=552552
  • Modification sites at PhosphoSitePlus

Other Protein References for TBC1D9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D9 Gene

Domains & Families for TBC1D9 Gene

Gene Families for TBC1D9 Gene

Suggested Antigen Peptide Sequences for TBC1D9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZT07

UniProtKB/Swiss-Prot:

TBCD9_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 TBC1D9: view

Function for TBC1D9 Gene

Molecular function for TBC1D9 Gene

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

Phenotypes From GWAS Catalog for TBC1D9 Gene

Gene Ontology (GO) - Molecular Function for TBC1D9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 22354992
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D9: view
genes like me logo Genes that share phenotypes with TBC1D9: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D9 Gene

Localization for TBC1D9 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 TBC1D9 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D9 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 TBC1D9: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D9 Gene

Pathways & Interactions for TBC1D9 Gene

SuperPathways for TBC1D9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D9 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 TBC1D9: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D9 Gene

Drugs & Compounds for TBC1D9 Gene

No Compound Related Data Available

Transcripts for TBC1D9 Gene

mRNA/cDNA for TBC1D9 Gene

Unigene Clusters for TBC1D9 Gene

TBC1 domain family, member 9 (with GRAM domain):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D9 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: -
SP2:
SP3:

Relevant External Links for TBC1D9 Gene

GeneLoc Exon Structure for
TBC1D9
ECgene alternative splicing isoforms for
TBC1D9

Expression for TBC1D9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D9 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for TBC1D9 Gene

This gene is overexpressed in Fetal Liver (24.1), Blymphocyte (19.5), and Breast (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D9 Gene



Protein tissue co-expression partners for TBC1D9 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D9 Gene:

TBC1D9

SOURCE GeneReport for Unigene cluster for TBC1D9 Gene:

Hs.480819

Evidence on tissue expression from TISSUES for TBC1D9 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with TBC1D9: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D9 Gene

Orthologs for TBC1D9 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBC1D9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D9 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia TBC1D9 34
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBC1D9 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D9 33 34
  • 89.23 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d9 33
  • 87.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D9 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d9 33 16 34
  • 86.92 (n)
chicken
(Gallus gallus)
Aves TBC1D9 33 34
  • 80.7 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D9 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d9 33
  • 75.36 (n)
zebrafish
(Danio rerio)
Actinopterygii tbc1d9 33 34
  • 73.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12198 33
fruit fly
(Drosophila melanogaster)
Insecta CG7324 33
  • 50.86 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006116 33
  • 50.69 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-9 33
  • 49.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 34
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14269 33
Species where no ortholog for TBC1D9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TBC1D9 Gene

ENSEMBL:
Gene Tree for TBC1D9 (if available)
TreeFam:
Gene Tree for TBC1D9 (if available)

Paralogs for TBC1D9 Gene

(7) SIMAP similar genes for TBC1D9 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TBC1D9: view

Variants for TBC1D9 Gene

Sequence variations from dbSNP and Humsavar for TBC1D9 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000029678 -- 140,738,343(-) T/A/G intron_variant
rs1000032364 -- 140,659,502(-) C/T intron_variant
rs1000046398 -- 140,744,843(-) A/G intron_variant
rs1000073777 -- 140,648,882(-) G/A intron_variant
rs10001070 -- 140,726,106(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D9 Gene

Variant ID Type Subtype PubMed ID
esv2073610 CNV deletion 18987734
esv2661875 CNV deletion 23128226
esv3564724 CNV deletion 23714750
nsv478418 CNV novel sequence insertion 20440878
nsv822750 CNV gain 20364138
nsv830089 CNV gain+loss 17160897
nsv949826 CNV deletion 24416366

Variation tolerance for TBC1D9 Gene

Residual Variation Intolerance Score: 3.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.96; 49.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D9 Gene

Human Gene Mutation Database (HGMD)
TBC1D9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D9 Gene

Disorders for TBC1D9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D9 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
osteochondrosis
  • juvenile osteochondrosis of tibial tubercle
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TBC1D9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D9 Gene

Publications for TBC1D9 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 to cells : devoted to molecular & cellular mechanisms 2009) 3 4 58
  3. High level of cannabinoid receptor 1, absence of regulator of G protein signalling 13 and differential expression of Cyclin D1 in mantle cell lymphoma. (PMID: 12970790) Islam TC … Sander B (Leukemia 2003) 2 3 58
  4. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TBC1D9 Gene

Sources for TBC1D9 Gene

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