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Aliases for TBC1D2 Gene

Aliases for TBC1D2 Gene

  • TBC1 Domain Family Member 2 2 3 5
  • Prostate Antigen Recognized And Identified By SEREX 1 3 4
  • TBC1 Domain Family, Member 2 2 3
  • PARIS-1 3 4
  • TBC1D2A 3 4
  • PARIS1 3 4
  • Armus 3 4
  • Prostate Antigen Recognized And Identified By SEREX 2
  • TBC1 Domain Family, Member 2A 3
  • PP8997 4

External Ids for TBC1D2 Gene

Previous GeneCards Identifiers for TBC1D2 Gene

  • GC09M091786
  • GC09M092704
  • GC09M094418
  • GC09M096341
  • GC09M098040
  • GC09M100001
  • GC09M100961
  • GC09M070561

Summaries for TBC1D2 Gene

GeneCards Summary for TBC1D2 Gene

TBC1D2 (TBC1 Domain Family Member 2) is a Protein Coding gene. GO annotations related to this gene include GTPase activator activity and cadherin binding. An important paralog of this gene is TBC1D30.

UniProtKB/Swiss-Prot for TBC1D2 Gene

  • Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D2 Gene

Genomics for TBC1D2 Gene

Regulatory Elements for TBC1D2 Gene

Promoters for TBC1D2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D2 Gene

Chromosome:
9
Start:
98,198,998 bp from pter
End:
98,255,721 bp from pter
Size:
56,724 bases
Orientation:
Minus strand

Genomic View for TBC1D2 Gene

Genes around TBC1D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D2 Gene

Proteins for TBC1D2 Gene

  • Protein details for TBC1D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYX2-TBD2A_HUMAN
    Recommended name:
    TBC1 domain family member 2A
    Protein Accession:
    Q9BYX2
    Secondary Accessions:
    • B3KWD1
    • B4DQ05
    • B9A6J7
    • Q59EU0
    • Q5TBQ5
    • Q6IPC7
    • Q7L1K8
    • Q8WYT1
    • Q9H6A2
    • Q9NSH4

    Protein attributes for TBC1D2 Gene

    Size:
    928 amino acids
    Molecular mass:
    105414 Da
    Quaternary structure:
    • Interacts with activated RAC1 and CDH1.
    Miscellaneous:
    • Armus means hinge, linker in Latin and ancient Greek.
    SequenceCaution:
    • Sequence=CAB89247.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBC1D2 Gene

    Alternative splice isoforms for TBC1D2 Gene

neXtProt entry for TBC1D2 Gene

Proteomics data for TBC1D2 Gene at MOPED

Post-translational modifications for TBC1D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D2 Gene

No data available for DME Specific Peptides for TBC1D2 Gene

Domains & Families for TBC1D2 Gene

Protein Domains for TBC1D2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYX2

UniProtKB/Swiss-Prot:

TBD2A_HUMAN :
  • Contains 1 PH domain.
Domain:
  • Contains 1 PH domain.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D2: view

No data available for Gene Families for TBC1D2 Gene

Function for TBC1D2 Gene

Molecular function for TBC1D2 Gene

UniProtKB/Swiss-Prot Function:
Acts as GTPase-activating protein for RAB7A. Signal effector acting as a linker between RAC1 and RAB7A, leading to RAB7A inactivation and subsequent inhibition of cadherin degradation and reduced cell-cell adhesion.

Gene Ontology (GO) - Molecular Function for TBC1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D2: view
genes like me logo Genes that share phenotypes with TBC1D2: view

Animal Model Products

miRNA for TBC1D2 Gene

miRTarBase miRNAs that target TBC1D2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D2 Gene

Localization for TBC1D2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D2 Gene

Cytoplasm. Cytoplasmic vesicle. Cell junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D2 Gene COMPARTMENTS Subcellular localization image for TBC1D2 gene
Compartment Confidence
cytosol 3
nucleus 2
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TBC1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IDA 20116244
genes like me logo Genes that share ontologies with TBC1D2: view

Pathways & Interactions for TBC1D2 Gene

SuperPathways for TBC1D2 Gene

No Data Available

Interacting Proteins for TBC1D2 Gene

Gene Ontology (GO) - Biological Process for TBC1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBC1D2: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D2 Gene

Drugs & Compounds for TBC1D2 Gene

No Compound Related Data Available

Transcripts for TBC1D2 Gene

Unigene Clusters for TBC1D2 Gene

TBC1 domain family, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D2 Gene

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

Relevant External Links for TBC1D2 Gene

GeneLoc Exon Structure for
TBC1D2
ECgene alternative splicing isoforms for
TBC1D2

Expression for TBC1D2 Gene

mRNA expression in normal human tissues for TBC1D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBC1D2 Gene

This gene is overexpressed in Whole Blood (x6.8).

Protein differential expression in normal tissues from HIPED for TBC1D2 Gene

This gene is overexpressed in Vitreous humor (50.9) and Monocytes (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D2 Gene



SOURCE GeneReport for Unigene cluster for TBC1D2 Gene Hs.371016

mRNA Expression by UniProt/SwissProt for TBC1D2 Gene

Q9BYX2-TBD2A_HUMAN
Tissue specificity: Expressed in a broad range of tissues, especially in kidney, liver, lung and placenta. Also expressed in keratinocytes and epithelia-containing organs. Isoform 2 is differentially expressed in prostate normal and cancer cells (at protein level).
genes like me logo Genes that share expression patterns with TBC1D2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for TBC1D2 Gene

Orthologs for TBC1D2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBC1D2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBC1D2 35
  • 85.92 (n)
  • 83.08 (a)
TBC1D2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D2 35
  • 87.84 (n)
  • 85.62 (a)
TBC1D2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d2 35
  • 83.46 (n)
  • 83.61 (a)
Tbc1d2 16
Tbc1d2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBC1D2 35
  • 99.53 (n)
  • 99.68 (a)
TBC1D2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d2 35
  • 82.7 (n)
  • 82.94 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D2 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D2 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D2 35
  • 63.74 (n)
  • 59.56 (a)
TBC1D2 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D2 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tbc1d2 35
  • 56.99 (n)
  • 50.51 (a)
TBC1D2 36
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4149 35
fruit fly
(Drosophila melanogaster)
Insecta CG7324 36
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C31E10.8 37
  • 36 (a)
ZK1248.10 37
  • 36 (a)
tbc-2 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 36
  • 11 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07890 35
  • 45.98 (n)
  • 37.93 (a)
rice
(Oryza sativa)
Liliopsida Os08g0337700 35
  • 43.84 (n)
  • 37.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 13 (a)
ManyToMany
Species with no ortholog for TBC1D2:
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TBC1D2 Gene

ENSEMBL:
Gene Tree for TBC1D2 (if available)
TreeFam:
Gene Tree for TBC1D2 (if available)

Paralogs for TBC1D2 Gene

Paralogs for TBC1D2 Gene

(8) SIMAP similar genes for TBC1D2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TBC1D2: view

Variants for TBC1D2 Gene

Sequence variations from dbSNP and Humsavar for TBC1D2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs879368 - 98,233,476(-) ATTCT(A/C)CACAG nc-transcript-variant, reference, missense
rs879369 - 98,233,439(-) GCCCT(A/C/G/T)GGCCT nc-transcript-variant, reference, missense
VAR_046709 -
rs733040 -- 98,210,106(-) GCTCA(C/T)GCCTG intron-variant
rs942166 -- 98,210,417(+) ATAAA(C/T)GGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D2 Gene

Variant ID Type Subtype PubMed ID
nsv520067 CNV Gain 19592680
nsv831663 CNV Loss 17160897
esv2738819 CNV Deletion 23290073
esv2673798 CNV Deletion 23128226
esv2643659 CNV Deletion 19546169
esv2738820 CNV Deletion 23290073
esv2656892 CNV Deletion 23128226
esv24927 CNV Loss 19812545

Variation tolerance for TBC1D2 Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.65; 89.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D2 Gene

HapMap Linkage Disequilibrium report
TBC1D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D2 Gene

Disorders for TBC1D2 Gene

Relevant External Links for TBC1D2

Genetic Association Database (GAD)
TBC1D2
Human Genome Epidemiology (HuGE) Navigator
TBC1D2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D2

No disorders were found for TBC1D2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D2 Gene

Publications for TBC1D2 Gene

  1. Serological cloning of PARIS-1: a new TBC domain-containing, immunogenic tumor antigen from a prostate cancer cell line. (PMID: 11785977) Zhou Y. … Salgaller M.L. (Biochem. Biophys. Res. Commun. 2002) 3 4 23 67
  2. The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during autophagy. (PMID: 23562278) Carroll B. … Braga V.M. (Dev. Cell 2013) 3
  3. Rab GTPase-activating proteins in autophagy: regulation of endocytic and autophagy pathways by direct binding to human ATG8 modifiers. (PMID: 22354992) Popovic D. … Dikic I. (Mol. Cell. Biol. 2012) 3
  4. A high-throughput approach for measuring temporal changes in the interactome. (PMID: 22863883) Kristensen A.R. … Foster L.J. (Nat. Methods 2012) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for TBC1D2 Gene

Sources for TBC1D2 Gene

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