TBC1D2 (TBC1 domain family member 2)

Gene

• Entrez ID: 55357
• Gene name: TBC1 domain family member 2
• Gene symbol: TBC1D2
• Synonyms (NCBI Gene): PARIS-1, PARIS1, TBC1D2A
• Chromosome: 9
• Chromosome location: 9q22.33

miRNA

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
MIRT1412707	hsa-miR-1915	CLIP-seq
MIRT1412708	hsa-miR-4298	CLIP-seq
MIRT1412709	hsa-miR-4446-3p	CLIP-seq
MIRT1412710	hsa-miR-4492	CLIP-seq
MIRT1412711	hsa-miR-4498	CLIP-seq
MIRT1412712	hsa-miR-4505	CLIP-seq
MIRT1412713	hsa-miR-4685-5p	CLIP-seq
MIRT1412714	hsa-miR-762	CLIP-seq
MIRT2346011	hsa-miR-3190	CLIP-seq
MIRT2346012	hsa-miR-3194-3p	CLIP-seq
MIRT2346013	hsa-miR-7	CLIP-seq
MIRT2638866	hsa-miR-2110	CLIP-seq
MIRT2638867	hsa-miR-4271	CLIP-seq
MIRT2638868	hsa-miR-4725-3p	CLIP-seq
MIRT2638869	hsa-miR-491-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	20116244
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	22354992, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0030054	Component	Cell junction	IDA	20116244
GO:0031410	Component	Cytoplasmic vesicle	IDA	20116244
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IDA	20116244
GO:0045296	Function	Cadherin binding	IPI	20116244
GO:0070161	Component	Anchoring junction	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	17646400

Other IDs

• MIM: 609871
• HGNC: 18026
• e!Ensembl: ENSG00000095383

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

• 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

Pathways

Reactome:

TBC/RABGAPs

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Mycotic Aneurysm, Intracranial	Uncertain significance	rs774546155	RCV001731003

Associations from Text Mining
Disease Name	Relationship Type	References
Intracranial Aneurysm	Associate	35228681, 39206894
Melanoma Cutaneous Malignant	Associate	36437242
Neoplasms	Associate	34036687