• Gene id: 55357

Gene Summary

• Gene Symbol: TBC1D2   Gene   UCSC   Ensembl
• Aliases: PARIS-1, PARIS1, TBC1D2A
• Gene name: TBC1 domain family member 2
• Alternate names: TBC1 domain family member 2A, TBC1 domain family, member 2A, armus, prostate antigen recognized and identified by SEREX 1,
• Gene location: 9q22.33 (98255648: 98198997)     Exons: 17     NC_000009.12

Protein Summary

• Protein general information: Q9BYX2  
  • Name: TBC1 domain family member 2A (Armus) (Prostate antigen recognized and identified by SEREX 1) (PARIS 1)
  • Length: 928  
  • Mass: 105414
  • 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:

  MEGAGENAPESSSSAPGSEESARDPQVPPPEEESGDCARSLEAVPKKLCGYLSKFGGKGPIRGWKSRWFFYDERK
  CQLYYSRTAQDANPLDSIDLSSAVFDCKADAEEGIFEIKTPSRVITLKAATKQAMLYWLQQLQMKRWEFHNSPPA
  PPATPDAALAGNGPVLHLELGQEEAELEEFLCPVKTPPGLVGVAAALQPFPALQNISLKHLGTEIQNTMHNIRGN
  KQAQGTGHEPPGEDSPQSGEPQREEQPLASDASTPGREPEDSPKPAPKPSLTISFAQKAKRQNNTFPFFSEGITR
  NRTAQEKVAALEQQVLMLTKELKSQKELVKILHKALEAAQQEKRASSAYLAAAEDKDRLELVRHKVRQIAELGRR
  VEALEQERESLAHTASLREQQVQELQQHVQLLMDKNHAKQQVICKLSEKVTQDFTHPPDQSPLRPDAANRDFLSQ
  QGKIEHLKDDMEAYRTQNCFLNSEIHQVTKIWRKVAEKEKALLTKCAYLQARNCQVESKYLAGLRRLQEALGDEA
  SECSELLRQLVQEALQWEAGEASSDSIELSPISKYDEYGFLTVPDYEVEDLKLLAKIQALESRSHHLLGLEAVDR
  PLRERWAALGDLVPSAELKQLLRAGVPREHRPRVWRWLVHLRVQHLHTPGCYQELLSRGQAREHPAARQIELDLN
  RTFPNNKHFTCPTSSFPDKLRRVLLAFSWQNPTIGYCQGLNRLAAIALLVLEEEESAFWCLVAIVETIMPADYYC
  NTLTASQVDQRVLQDLLSEKLPRLMAHLGQHHVDLSLVTFNWFLVVFADSLISNILLRVWDAFLYEGTKVVFRYA
  LAIFKYNEKEILRLQNGLEIYQYLRFFTKTISNSRKLMNIAFNDMNPFRMKQLRQLRMVHRERLEAELRELEQLK
  AEYLERRASRRRAVSEGCASEDEVEGEA

• Structural information:
  • Protein Domains: (45..14-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (625..81-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR011993  IPR001849  IPR000195  IPR035969  
  • Prosite: PS50003 PS50086
  • PDB: 2DHK
  • PDBsum: 2DHK
  • STRING: ENSP00000481721
• Other Databases: GeneCards:  TBC1D2  Malacards:  TBC1D2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0045296	cadherin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq