• Gene id: 23527

Gene Summary

• Gene Symbol: ACAP2   Gene   UCSC   Ensembl
• Aliases: CENTB2, CNT-B2
• Gene name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
• Alternate names: arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2, Arf GAP with coiled coil, ANK repeat and PH domains 2, centaurin-beta-2,
• Gene location: 3q29 (195443175: 195274741)     Exons: 29     NC_000003.12
• OMIM: 607766

Protein Summary

• Protein general information: Q15057  
  • Name: Arf GAP with coiled coil, ANK repeat and PH domain containing protein 2 (Centaurin beta 2) (Cnt b2)
  • Length: 778  
  • Mass: 88029
  • Tissue specificity: Widely expressed. Highest level in lung. {ECO
• Sequence:

  MKMTVDFEECLKDSPRFRAALEEVEGDVAELELKLDKLVKLCIAMIDTGKAFCVANKQFMNGIRDLAQYSSNDAV
  VETSLTKFSDSLQEMINFHTILFDQTQRSIKAQLQNFVKEDLRKFKDAKKQFEKVSEEKENALVKNAQVQRNKQH
  EVEEATNILTATRKCFRHIALDYVLQINVLQSKRRSEILKSMLSFMYAHLAFFHQGYDLFSELGPYMKDLGAQLD
  RLVVDAAKEKREMEQKHSTIQQKDFSSDDSKLEYNVDAANGIVMEGYLFKRASNAFKTWNRRWFSIQNNQLVYQK
  KFKDNPTVVVEDLRLCTVKHCEDIERRFCFEVVSPTKSCMLQADSEKLRQAWIKAVQTSIATAYREKGDESEKLD
  KKSSPSTGSLDSGNESKEKLLKGESALQRVQCIPGNASCCDCGLADPRWASINLGITLCIECSGIHRSLGVHFSK
  VRSLTLDTWEPELLKLMCELGNDVINRVYEANVEKMGIKKPQPGQRQEKEAYIRAKYVERKFVDKYSISLSPPEQ
  QKKFVSKSSEEKRLSISKFGPGDQVRASAQSSVRSNDSGIQQSSDDGRESLPSTVSANSLYEPEGERQDSSMFLD
  SKHLNPGLQLYRASYEKNLPKMAEALAHGADVNWANSEENKATPLIQAVLGGSLVTCEFLLQNGANVNQRDVQGR
  GPLHHATVLGHTGQVCLFLKRGANQHATDEEGKDPLSIAVEAANADIVTLLRLARMNEEMRESEGLYGQPGDETY
  QDIFRDFSQMASNNPEKLNRFQQDSQKF

• Structural information:
  • Protein Domains: (1..22-)
    (/note="BAR-)
    (266..36-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (399..52-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR027267  IPR002110  IPR020683  IPR036770  IPR037278   IPR001164  IPR038508  IPR011993  IPR001849  
  • Prosite: PS50297 PS50088 PS50115 PS50003
  • PDB: 6IF3
  • PDBsum: 6IF3
  • STRING: ENSP00000324287
• Other Databases: GeneCards:  ACAP2  Malacards:  ACAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010008	endosome membrane	IBA	cellular component
GO:1990090	cellular response to nerve growth factor stimulus	ISS	biological process
GO:0032456	endocytic recycling	ISS	biological process
GO:0010008	endosome membrane	ISS	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0030029	actin filament-based process	IDA	biological process
GO:0001726	ruffle	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IEA	molecular function
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0010008	endosome membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881