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TBC1D2 (TBC1 domain family member 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55357
Gene nameGene Name - the full gene name approved by the HGNC.
TBC1 domain family member 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TBC1D2
SynonymsGene synonyms aliases
PARIS-1, PARIS1, TBC1D2A
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
miRNAmiRNA information provided by mirtarbase database.
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MEGAGENAPESSSSAPGSEESARDPQVPPPEEESGDCARSLEAVPKKLCGYLSKFGGKGP
IRGWKSRWFFYDERKCQLYYSRTAQDANPLDSIDLSSAVFDCKADAEEGIFEIKTPSRVI
TLKAATKQAMLYWLQQLQMK
RWEFHNSPPAPPATPDAALAGNGPVLHLELGQEEAELEEF
LCPVKTPPGLVGVAAALQPFPALQNISLKHLGTEIQNTMHNIRGNKQAQGTGHEPPGEDS
PQSGEPQREEQPLASDASTPGREPEDSPKPAPKPSLTISFAQKAKRQNNTFPFFSEGITR
NRTAQEKVAALEQQVLMLTKELKSQKELVKILHKALEAAQQEKRASSAYLAAAEDKDRLE
LVRHKVRQIAELGRRVEALEQERESLAHTASLREQQVQELQQHVQLLMDKNHAKQQVICK
LSEKVTQDFTHPPDQSPLRPDAANRDFLSQQGKIEHLKDDMEAYRTQNCFLNSEIHQVTK
IWRKVAEKEKALLTKCAYLQARNCQVESKYLAGLRRLQEALGDEASECSELLRQLVQEAL
QWEAGEASSDSIELSPISKYDEYGFLTVPDYEVEDLKLLAKIQALESRSHHLLGLEAVDR
PLRERWAALGDLVPSAELKQLLRAGVPREHRPRVWRWLVHLRVQHLHTPGCYQELLSRGQ
AREHPAARQIELDLNRTFPNNKHFTCPTSSFPDKLRRVLLAFSWQNPTIGYCQGLNRLAA
IALLVLEEEESAFWCLVAIVETIMPADYYCNTLTASQVDQRVLQDLLSEKLPRLMAHLGQ
HHVDLSLVTFNWFLVVFADSLISNILLRVWDAFLYEGTKVVFRYALAIFKYNEKEIL
RLQ
NGLEIYQYLRFFTKTISNSRKLMNIAFNDMNPFRMKQLRQLRMVHRERLEAELRELEQLK
AEYLERRASRRRAVSEGCASEDEVEGEA
Sequence length 928
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    TBC/RABGAPs
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 29610475
Unknown
Disease name Disease term dbSNP ID References
Prostatic neoplasms Prostatic Neoplasms 29610475
Stress disorder Post-Traumatic Stress Disorder 26114229

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