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 2A 3 4
  • 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
  • TBC1 Domain Family, Member 2 2
  • 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. Diseases associated with TBC1D2 include Suppurative Cholangitis and Facial Neuralgia. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and cadherin binding. An important paralog of this gene is TBC1D2B.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for TBC1D2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D2 Gene

Genomics for TBC1D2 Gene

GeneHancer (GH) Regulatory Elements for TBC1D2 Gene

Promoters and enhancers for TBC1D2 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 TBC1D2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D2

Top Transcription factor binding sites by QIAGEN in the TBC1D2 gene promoter:
  • CBF(2)
  • CBF-A
  • COMP1
  • Elk-1
  • HOXA9
  • HOXA9B
  • IRF-7A
  • Meis-1
  • Meis-1a
  • Sp1

Genomic Locations for TBC1D2 Gene

Genomic Locations for TBC1D2 Gene
chr9:98,198,998-98,255,721
(GRCh38/hg38)
Size:
56,724 bases
Orientation:
Minus strand
chr9:100,961,280-101,018,003
(GRCh37/hg19)
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=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TBC1D2 Gene

    Alternative splice isoforms for TBC1D2 Gene

neXtProt entry for TBC1D2 Gene

Post-translational modifications for TBC1D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TBC1D2 Gene

Domains & Families for TBC1D2 Gene

Gene Families for TBC1D2 Gene

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

Protein Domains for TBC1D2 Gene

Blocks:
  • Pleckstrin-like
  • RabGAP/TBC domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D2 Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 2, isoform CRA_d (Q5TBQ6_HUMAN)
  • TBC1 domain family, member 2, isoform CRA_e (Q5TBQ7_HUMAN)
  • Prostate antigen recognized and identified by SEREX 1 (TBD2A_HUMAN)
genes like me logo Genes that share domains with TBC1D2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TBC1D2 Gene

Gene Ontology (GO) - Molecular Function for TBC1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 20116244
GO:0005515 protein binding IPI 22354992
GO:0017137 Rab GTPase binding IBA 21873635
GO:0045296 cadherin binding IPI 20116244
genes like me logo Genes that share ontologies with TBC1D2: view
genes like me logo Genes that share phenotypes with TBC1D2: view

Animal Models for TBC1D2 Gene

MGI Knock Outs for TBC1D2:
  • Tbc1d2 Tbc1d2<tm1(NCOM)Cmhd>

Animal Model Products

CRISPR Products

miRNA for TBC1D2 Gene

miRTarBase miRNAs that target TBC1D2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 TBC1D2 gene
Compartment Confidence
cytosol 5
nucleus 4
endosome 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for TBC1D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0030054 cell junction IEA,IDA 20116244
genes like me logo Genes that share ontologies with TBC1D2: view

Pathways & Interactions for TBC1D2 Gene

PathCards logo

SuperPathways for TBC1D2 Gene

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

Pathways by source for TBC1D2 Gene

3 Reactome pathways 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 21873635
GO:0043547 positive regulation of GTPase activity IDA 20116244
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 TBC1D2: view

No data available for SIGNOR curated interactions for TBC1D2 Gene

Drugs & Compounds for TBC1D2 Gene

No Compound Related Data Available

Transcripts for TBC1D2 Gene

mRNA/cDNA for TBC1D2 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for TBC1D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TBC1D2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D2

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).

Evidence on tissue expression from TISSUES for TBC1D2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with TBC1D2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TBC1D2 31 30
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D2 31 30
  • 87.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D2 31 30
  • 85.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d2 17 31 30
  • 83.46 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d2 30
  • 82.7 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D2 31
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D2 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBC1D2 31 30
  • 63.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D2 31
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tbc1d2 30
  • 56.99 (n)
TBC1D2 31
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4149 30
fruit fly
(Drosophila melanogaster)
Insecta CG7324 31
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZK1248.10 32
  • 36 (a)
C31E10.8 32
  • 36 (a)
tbc-2 31
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDR1 31
  • 11 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07890 30
  • 45.98 (n)
rice
(Oryza sativa)
Liliopsida Os08g0337700 30
  • 43.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 13 (a)
ManyToMany
Species where no ortholog for TBC1D2 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D2: view image

Paralogs for TBC1D2 Gene

Variants for TBC1D2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
710851 Likely Benign: not provided 98,200,284(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
712999 Benign: not provided 98,201,496(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
715479 Benign: not provided 98,220,933(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
730585 Benign: not provided 98,210,833(-) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
744584 Likely Benign: not provided 98,199,440(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for TBC1D2 Gene

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

Variant ID Type Subtype PubMed ID
esv24927 CNV loss 19812545
esv2643659 CNV deletion 19546169
esv2656892 CNV deletion 23128226
esv2673798 CNV deletion 23128226
esv2738819 CNV deletion 23290073
esv2738820 CNV deletion 23290073
esv3545181 CNV deletion 23714750
esv3621201 CNV gain 21293372
esv3621207 CNV loss 21293372
esv3621208 CNV loss 21293372
nsv1110043 CNV deletion 24896259
nsv520067 CNV gain 19592680
nsv831663 CNV loss 17160897

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)

Additional Variant Information for TBC1D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D2

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

Disorders for TBC1D2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TBC1D2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
suppurative cholangitis
facial neuralgia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D2

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 TBC1D2: view

No data available for 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 ML (Biochemical and biophysical research communications 2002) 3 4 23 54
  2. Armus is a Rac1 effector that inactivates Rab7 and regulates E-cadherin degradation. (PMID: 20116244) Frasa MA … Braga VM (Current biology : CB 2010) 3 4 54
  3. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PMID: 20583170) Letra A … Vieira AR (American journal of medical genetics. Part A 2010) 3 41 54
  4. 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 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for TBC1D2 Gene

Sources for TBC1D2 Gene