TBC1D2 (TBC1 domain family member 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55357
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D2
Synonyms (NCBI Gene) Gene synonyms aliases
PARIS-1, PARIS1, TBC1D2A
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
miRTarBase ID miRNA Experiments Reference
MIRT002537 hsa-miR-373-3p Microarray 15685193
MIRT002537 hsa-miR-373-3p Microarray;Other 15685193
MIRT438761 hsa-miR-17-5p Luciferase reporter assay, qRT-PCR, Western blot 23285084
MIRT438761 hsa-miR-17-5p Luciferase reporter assay, qRT-PCR, Western blot 23285084
MIRT1412706 hsa-miR-1302 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005096 Function GTPase activator activity IDA 20116244
GO:0005515 Function Protein binding IPI 22354992
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609871 18026 ENSG00000095383
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BYX2
Protein name TBC1 domain family member 2A (Armus) (Prostate antigen recognized and identified by SEREX 1) (PARIS-1)
Protein function Acts as a 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. {ECO:0000269|PubMed:2011624
PDB 2DHK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 46 → 140 PH domain Domain
PF00566 RabGAP-TBC 628 → 837 Rab-GTPase-TBC domain Family
Tissue specificity 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 prote
Sequence 
MEGAGENAPESSSSAPGSEESARDPQVPPPEEESGDCARSLEAVPKKLCGYLSKFGGKGP
IRGWKSRWFFYDERKCQLYYSRTAQDANPLDSIDLSSAVFDCKADAEEGIFEIKTPSRVI
TLKAATKQAMLYWLQQLQMKRWEFHNSPPAPPATPDAALAGNGPVLHLELGQEEAELEEF
LCPVKTPPGLVGVAAALQPFPALQNISLKHLGTEIQNTMHNIRGNKQAQGTGHEPPGEDS
PQSGEPQREEQPLASDASTPGREPEDSPKPAPKPSLTISFAQKAKRQNNTFPFFSEGITR
NRTAQEKVAALEQQVLMLTKELKSQKELVKILHKALEAAQQEKRASSAYLAAAEDKDRLE
LVRHKVRQIAELGRRVEALEQERESLAHTASLREQQVQELQQHVQLLMDKNHAKQQVICK
LSEKVTQDFTHPPDQSPLRPDAANRDFLSQQGKIEHLKDDMEAYRTQNCFLNSEIHQVTK
IWRKVAEKEKALLTKCAYLQARNCQVESKYLAGLRRLQEALGDEASECSELLRQLVQEAL
QWEAGEASSDSIELSPISKYDEYGFLTVPDYEVEDLKLLAKIQALESRSHHLLGLEAVDR
PLRERWAALGDLVPSAELKQLLRAGVPREHRPRVWRWLVHLRVQHLHTPGCYQELLSRGQ
AREHPAARQIELDLNRTFPNNKHFTCPTSSFPDKLRRVLLAFSWQNPTIGYCQGLNRLAA
IALLVLEEEESAFWCLVAIVETIMPADYYCNTLTASQVDQRVLQDLLSEKLPRLMAHLGQ
HHVDLSLVTFNWFLVVFADSLISNILLRVWDAFLYEGTKVVFRYALAIFKYNEKEILRLQ
NGLEIYQYLRFFTKTISNSRKLMNIAFNDMNPFRMKQLRQLRMVHRERLEAELRELEQLK
AEYLERRASRRRAVSEGCASEDEVEGEA
Sequence length 928
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    TBC/RABGAPs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 29610475
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Stress Disorder Stress Disorder GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Intracranial Aneurysm Associate 35228681, 39206894
Melanoma Cutaneous Malignant Associate 36437242
Neoplasms Associate 34036687