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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DUODENITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROENTERITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mycotic Aneurysm, Intracranial	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hyperferritinemia, hereditary, with congenital cataracts	Hereditary hyperferritinemia with congenital cataracts	BEFREE	9596665		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	35228681, 39206894	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36437242	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20944657		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	GWASCAT_DG	26114229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations