Aliases for TBC1D9B Gene

Aliases for TBC1D9B Gene

  • TBC1 Domain Family Member 9B 2 3 4 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. Gene Ontology (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 Summary for TBC1D9B Gene

Additional gene information for TBC1D9B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D9B Gene

Genomics for TBC1D9B Gene

GeneHancer (GH) Regulatory Elements for TBC1D9B Gene

Promoters and enhancers for TBC1D9B 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 TBC1D9B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D9B gene promoter:
  • C/EBPalpha
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a
  • SEF-1 (1)

Genomic Locations for TBC1D9B Gene

Genomic Locations for TBC1D9B Gene
chr5:179,862,066-179,907,859
(GRCh38/hg38)
Size:
45,794 bases
Orientation:
Minus strand
chr5:179,289,066-179,334,859
(GRCh37/hg19)
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

Suggested Antigen Peptide Sequences for TBC1D9B Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 9B (With GRAM domain) (A1L3A9_HUMAN)
  • TBC1 domain family, member 9B (B9A6K8_HUMAN)
  • TBC1D9B protein (Q9BW24_HUMAN)
  • TBC1 domain family member 9B (TBC9B_HUMAN)

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 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 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).

Phenotypes From GWAS Catalog for TBC1D9B Gene

Gene Ontology (GO) - Molecular Function for TBC1D9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 22354992
GO:0017137 Rab GTPase binding IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D9B

Clone 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
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 TBC1D9B gene
Compartment Confidence
cytosol 3
plasma membrane 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
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

PathCards logo

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 21873635
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 TBC1D9B: view

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

Drugs & Compounds for TBC1D9B Gene

No Compound Related Data Available

Transcripts for TBC1D9B Gene

mRNA/cDNA for TBC1D9B Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D9B

Clone 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 CGAP 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, 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

Evidence on tissue expression from TISSUES for TBC1D9B Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Skin(4.3)
  • Liver(4.2)
  • Lung(2.6)
genes like me logo Genes that share expression patterns with TBC1D9B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 32
  • 99.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 91 (a)
OneToMany
-- 33
  • 80 (a)
OneToMany
cow
(Bos Taurus)
Mammalia TBC1D9B 33 32
  • 89.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D9B 33 32
  • 89.11 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d9b 32
  • 87.49 (n)
mouse
(Mus musculus)
Mammalia Tbc1d9b 17 33 32
  • 87.45 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D9B 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D9B 33 32
  • 75.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D9B 33
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d9b 32
  • 70.26 (n)
zebrafish
(Danio rerio)
Actinopterygii TBC1D9B 33
  • 76 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUB2 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3902 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D9B: view image

Paralogs for TBC1D9B Gene

(7) SIMAP similar genes for TBC1D9B Gene using alignment to 9 proteins:

  • TBC9B_HUMAN
  • A1L3A9_HUMAN
  • B9A6K8_HUMAN
  • E5RIN2_HUMAN
  • F5H6M5_HUMAN
  • G3V133_HUMAN
  • H0YB08_HUMAN
  • H0YB58_HUMAN
  • Q9BW24_HUMAN
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 Variation AA Info Type
VAR_036196 A breast cancer sample p.Pro1086Gln
rs1000046447 -- 179,867,662(-) G/A/T intron_variant
rs1000091683 -- 179,867,940(-) T/C intron_variant
rs1000278172 -- 179,874,722(-) C/G intron_variant
rs1000309278 -- 179,874,433(-) G/A 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)

Additional Variant Information 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

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. ∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. (PMID: 26618866) Pankow S … Yates JR (Nature 2015) 3 56
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56

Products for TBC1D9B Gene

Sources for TBC1D9B Gene