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Aliases for TBC1D2B Gene

Aliases for TBC1D2B Gene

  • TBC1 Domain Family Member 2B 2 3 5
  • TBC1 Domain Family, Member 2B 2
  • KIAA1055 4

External Ids for TBC1D2B Gene

Previous GeneCards Identifiers for TBC1D2B Gene

  • GC15M076077
  • GC15M078276
  • GC15M055044

Summaries for TBC1D2B Gene

GeneCards Summary for TBC1D2B Gene

TBC1D2B (TBC1 Domain Family Member 2B) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D2.

UniProtKB/Swiss-Prot for TBC1D2B Gene

  • May act as a GTPase-activating protein.

Additional gene information for TBC1D2B 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 TBC1D2B Gene

Genomics for TBC1D2B Gene

GeneHancer (GH) Regulatory Elements for TBC1D2B Gene

Promoters and enhancers for TBC1D2B 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
GH15I078061 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.8 +7.7 7684 16.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B NEUROD1 SIN3A FEZF1 TBC1D2B LOC645752 ENSG00000199633 ADAMTS7P3 LOC440292 HMG20A DNAJA4 IREB2 SH2D7 GC15M078026
GH15I078871 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.5 -796.1 -796083 4.6 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 MORF4L1 IREB2 ENSG00000259562 PSMA4 TBC1D2B RNU6-415P ENSG00000260988 WDR61 LOC100129540 ENSG00000259322
GH15I077621 Enhancer 1.1 ENCODE dbSUPER 40.5 +454.8 454819 2.7 HDGF ZNF133 GLI4 ZNF2 ZBTB7B TCF12 ZNF207 MCM3 NCOA1 ZNF488 ENSG00000259562 IREB2 TBC1D2B WDR61 HMG20A ENSG00000259322 ENSG00000260988 PSMA4 HYKK LOC645752
GH15I078046 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 23.9 +24.4 24383 14.3 HDGF IRF4 THRB ZNF48 SCRT2 ZNF143 ATF7 RCOR1 ETV6 FOS TBC1D2B LOC645752 SH2D7 ADAMTS7P3 ENSG00000199633 CIB2 LOC440292 IREB2 PIR50223 GC15M078026
GH15I077884 Enhancer 1.3 Ensembl ENCODE dbSUPER 26.3 +192.3 192323 1.2 HDGF SMAD1 NEUROD1 YBX1 GLI4 ZNF2 ZBTB7B ZNF207 ATF7 ZNF548 ENSG00000259562 IREB2 TBC1D2B ENSG00000259322 WDR61 LOC645752 ENSG00000260988 PSMA4 CSPG4P13 DNM1P9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBC1D2B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBC1D2B gene promoter:

Genomic Locations for TBC1D2B Gene

Genomic Locations for TBC1D2B Gene
chr15:77,984,036-78,077,724
(GRCh38/hg38)
Size:
93,689 bases
Orientation:
Minus strand
chr15:78,276,378-78,370,066
(GRCh37/hg19)

Genomic View for TBC1D2B Gene

Genes around TBC1D2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D2B Gene

Proteins for TBC1D2B Gene

  • Protein details for TBC1D2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPU7-TBD2B_HUMAN
    Recommended name:
    TBC1 domain family member 2B
    Protein Accession:
    Q9UPU7
    Secondary Accessions:
    • A7MD42
    • Q8N1F9
    • Q9NXM0

    Protein attributes for TBC1D2B Gene

    Size:
    963 amino acids
    Molecular mass:
    109880 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH33712.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI52466.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW99190.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D2B Gene

Post-translational modifications for TBC1D2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D2B Gene

No data available for DME Specific Peptides for TBC1D2B Gene

Domains & Families for TBC1D2B Gene

Gene Families for TBC1D2B Gene

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

Suggested Antigen Peptide Sequences for TBC1D2B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D2B: view

No data available for UniProtKB/Swiss-Prot for TBC1D2B Gene

Function for TBC1D2B Gene

Molecular function for TBC1D2B Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein.

Phenotypes From GWAS Catalog for TBC1D2B Gene

Gene Ontology (GO) - Molecular Function for TBC1D2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0005515 protein binding IPI 20562859
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D2B: view
genes like me logo Genes that share phenotypes with TBC1D2B: view

Animal Models for TBC1D2B Gene

MGI Knock Outs for TBC1D2B:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TBC1D2B Gene

Localization for TBC1D2B 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 TBC1D2B gene
Compartment Confidence
cytosol 4
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005829 cytosol IDA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBC1D2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D2B Gene

Pathways & Interactions for TBC1D2B Gene

SuperPathways for TBC1D2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D2B 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 TBC1D2B: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D2B Gene

Drugs & Compounds for TBC1D2B Gene

No Compound Related Data Available

Transcripts for TBC1D2B Gene

Unigene Clusters for TBC1D2B Gene

TBC1 domain family, member 2B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a · 15b · 15c · 15d
SP1: - - - - - - - -
SP2: - - - - - -
SP3:
SP4:
SP5: -
SP6: - - -
SP7:

Relevant External Links for TBC1D2B Gene

GeneLoc Exon Structure for
TBC1D2B
ECgene alternative splicing isoforms for
TBC1D2B

Expression for TBC1D2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D2B Gene

Protein differential expression in normal tissues from HIPED for TBC1D2B Gene

This gene is overexpressed in Lavage (34.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D2B Gene



Protein tissue co-expression partners for TBC1D2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D2B Gene:

TBC1D2B

SOURCE GeneReport for Unigene cluster for TBC1D2B Gene:

Hs.567426

Evidence on tissue expression from TISSUES for TBC1D2B Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TBC1D2B: 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 TBC1D2B Gene

Orthologs for TBC1D2B Gene

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

Orthologs for TBC1D2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D2B 33 34
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia TBC1D2B 33 34
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Tbc1d2b 33 16 34
  • 87.05 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d2b 33
  • 86.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D2B 34
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D2B 33 34
  • 83.73 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D2B 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D2B 33 34
  • 73.08 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D2B 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d2b 33
  • 67 (n)
Str.17641 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9850 33
zebrafish
(Danio rerio)
Actinopterygii tbc1d2b 33 34
  • 64.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7324 34
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tbc-2 33 34
  • 46.82 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToMany
Species where no ortholog for TBC1D2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for TBC1D2B Gene

ENSEMBL:
Gene Tree for TBC1D2B (if available)
TreeFam:
Gene Tree for TBC1D2B (if available)

Paralogs for TBC1D2B Gene

(8) SIMAP similar genes for TBC1D2B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TBC1D2B: view

Variants for TBC1D2B Gene

Sequence variations from dbSNP and Humsavar for TBC1D2B Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000022624 -- 78,016,312(-) T/C intron_variant
rs1000073014 -- 78,066,368(-) T/C intron_variant
rs1000106799 -- 78,076,535(-) A/C intron_variant
rs1000118621 -- 78,033,609(-) A/T intron_variant
rs1000185168 -- 78,027,910(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D2B Gene

Variant ID Type Subtype PubMed ID
esv3569742 CNV gain 25503493
esv3636977 CNV gain 21293372
nsv1051558 CNV loss 25217958
nsv1116464 OTHER inversion 24896259
nsv1134475 CNV deletion 24896259
nsv1626 CNV insertion 18451855
nsv952001 CNV deletion 24416366
nsv952002 CNV duplication 24416366

Variation tolerance for TBC1D2B Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.21; 84.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D2B Gene

Human Gene Mutation Database (HGMD)
TBC1D2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D2B Gene

Disorders for TBC1D2B Gene

Additional Disease Information for TBC1D2B

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

No disorders were found for TBC1D2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D2B Gene

Publications for TBC1D2B Gene

  1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. 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
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58

Products for TBC1D2B Gene

Sources for TBC1D2B Gene

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