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Aliases for TBC1D9B Gene

Aliases for TBC1D9B Gene

  • TBC1 Domain Family Member 9B 2 3 5
  • TBC1 Domain Family, Member 9B (With GRAM Domain) 2 3
  • KIAA0676 4
  • GRAMD9B 3

External Ids for TBC1D9B Gene

Previous GeneCards Identifiers for TBC1D9B Gene

  • GC05M179222
  • GC05M179223
  • GC05M179289
  • GC05M174013

Summaries for TBC1D9B Gene

GeneCards Summary for TBC1D9B Gene

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

UniProtKB/Swiss-Prot for TBC1D9B Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D9B Gene

Genomics for TBC1D9B Gene

Regulatory Elements for TBC1D9B Gene

Enhancers for TBC1D9B 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
GH05F179906 0.2 ENCODE 22.9 +0.2 203 2.4 ELF3 ARID4B KLF17 SIN3A ZNF2 RAD21 ZNF121 GLIS2 EGR1 ELK1 TBC1D9B LOC100502572 LOC100289470 ENSG00000250674 ENSG00000253652 LOC100420514 OR2AI1P LOC646058 LOC105377765 GC05M179870
GH05F179870 0.4 ENCODE 20.3 +37.1 37084 0.2 CTCF NFIA REST ZBTB7A RAD21 SMARCA4 FOXP2 MYC TBC1D9B GC05M179870 MRNIP
GH05F179817 0.2 ENCODE 20.1 +87.3 87300 6.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MRNIP MAML1 TBC1D9B LOC100502572 LOC100289470 ENSG00000253652 ENSG00000250674 LOC100420514 OR2AI1P LOC100129457
GH05F179826 0.2 ENCODE 19.9 +80.4 80358 1.5 CTCF SMAD5 MAX YBX1 ZIC2 ZNF366 HDAC2 ZBTB48 POLR2A ZNF207 MRNIP SQSTM1 TBC1D9B MGAT4B MIR1229 LTC4S MAML1 GC05P179824 PIR43055 PIR32850
GH05F179852 0.8 Ensembl ENCODE 16.6 +54.9 54929 1.3 HDGF TBP MXI1 SAP130 ASH2L ARID4B CEBPG DMAP1 ZIC2 EGR2 MRNIP TBC1D9B MGAT4B SQSTM1 MIR1229 LTC4S MAML1 ENSG00000252202 LOC100996419 GC05M179848
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TBC1D9B on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D9B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001298353 159 1401 ELF3 SIN3A ZNF2 RAD21 ZNF121 GLIS2 EGR1 ELK1 ZNF391 ZBTB11

Genomic Location for TBC1D9B Gene

Chromosome:
5
Start:
179,862,066 bp from pter
End:
179,907,859 bp from pter
Size:
45,794 bases
Orientation:
Minus strand

Genomic View for TBC1D9B Gene

Genes around TBC1D9B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D9B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D9B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D9B Gene

Proteins for TBC1D9B Gene

  • Protein details for TBC1D9B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q66K14-TBC9B_HUMAN
    Recommended name:
    TBC1 domain family member 9B
    Protein Accession:
    Q66K14
    Secondary Accessions:
    • D3DWQ5
    • D3DWQ6
    • O75163
    • Q53EY0
    • Q6MZI2
    • Q96H49

    Protein attributes for TBC1D9B Gene

    Size:
    1250 amino acids
    Molecular mass:
    140525 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH08919.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D9B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D9B Gene

Post-translational modifications for TBC1D9B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D9B Gene

No data available for DME Specific Peptides for TBC1D9B Gene

Domains & Families for TBC1D9B Gene

Gene Families for TBC1D9B Gene

Protein Domains for TBC1D9B Gene

Graphical View of Domain Structure for InterPro Entry

Q66K14

UniProtKB/Swiss-Prot:

TBC9B_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.
  • Contains 1 EF-hand domain.
  • Contains 2 GRAM domains.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D9B: view

Function for TBC1D9B Gene

Molecular function for TBC1D9B Gene

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

Gene Ontology (GO) - Molecular Function for TBC1D9B 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 TBC1D9B: view
genes like me logo Genes that share phenotypes with TBC1D9B: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D9B Gene

Localization for TBC1D9B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D9B Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D9B Gene COMPARTMENTS Subcellular localization image for TBC1D9B gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 2
plasma membrane 2
endoplasmic reticulum 1
endosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBC1D9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0012505 endomembrane system IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TBC1D9B: view

Pathways & Interactions for TBC1D9B Gene

SuperPathways for TBC1D9B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D9B 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 --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D9B: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D9B Gene

Transcripts for TBC1D9B Gene

Unigene Clusters for TBC1D9B Gene

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

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D9B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^
SP1: - - - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:

ExUns: 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for TBC1D9B Gene

GeneLoc Exon Structure for
TBC1D9B
ECgene alternative splicing isoforms for
TBC1D9B

Expression for TBC1D9B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D9B Gene

Protein differential expression in normal tissues from HIPED for TBC1D9B Gene

This gene is overexpressed in Pancreas (7.3), Lymph node (6.8), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D9B Gene



Protein tissue co-expression partners for TBC1D9B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D9B Gene:

TBC1D9B

SOURCE GeneReport for Unigene cluster for TBC1D9B Gene:

Hs.155829
genes like me logo Genes that share expression patterns with TBC1D9B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D9B Gene

Orthologs for TBC1D9B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D9B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D9B 34
  • 99.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TBC1D9B 34 35
  • 89.33 (n)
dog
(Canis familiaris)
Mammalia TBC1D9B 34 35
  • 89.11 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d9b 34
  • 87.49 (n)
mouse
(Mus musculus)
Mammalia Tbc1d9b 34 16 35
  • 87.45 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D9B 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D9B 34 35
  • 75.82 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D9B 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d9b 34
  • 70.26 (n)
zebrafish
(Danio rerio)
Actinopterygii TBC1D9B 35
  • 76 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUB2 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 35
  • 34 (a)
OneToMany
Species where no ortholog for TBC1D9B 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)
  • 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 TBC1D9B Gene

ENSEMBL:
Gene Tree for TBC1D9B (if available)
TreeFam:
Gene Tree for TBC1D9B (if available)

Paralogs for TBC1D9B Gene

Paralogs for TBC1D9B Gene

genes like me logo Genes that share paralogs with TBC1D9B: view

Variants for TBC1D9B Gene

Sequence variations from dbSNP and Humsavar for TBC1D9B Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_036196 A breast cancer sample
rs10037618 -- 179,874,972(+) CAGGA(A/C/T)GGCCA reference, missense
rs10042937 -- 179,885,484(+) ctcgg(A/G)aggct intron-variant
rs10052193 -- 179,903,614(+) ttctg(C/T)ttaaa intron-variant
rs10053838 -- 179,868,345(+) cccag(A/C)taatt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D9B Gene

Variant ID Type Subtype PubMed ID
esv2731312 CNV deletion 23290073
esv3570597 CNV loss 25503493
esv3607755 CNV loss 21293372
esv4887 CNV loss 18987735
esv990502 CNV deletion 20482838
nsv1073523 CNV deletion 25765185
nsv327239 CNV deletion 16902084
nsv469579 CNV loss 16826518
nsv823362 CNV loss 20364138

Variation tolerance for TBC1D9B Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D9B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D9B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D9B Gene

Disorders for TBC1D9B Gene

Relevant External Links for TBC1D9B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D9B

No disorders were found for TBC1D9B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D9B Gene

Publications for TBC1D9B Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for TBC1D9B Gene

Sources for TBC1D9B Gene

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