• Gene id: 84364

Gene Summary

• Gene Symbol: ARFGAP2   Gene   UCSC   Ensembl
• Aliases: IRZ, NBLA10535, ZFP289, ZNF289
• Gene name: ADP ribosylation factor GTPase activating protein 2
• Alternate names: ADP-ribosylation factor GTPase-activating protein 2, GTPase-activating protein ZNF289, zinc finger protein 289, ID1 regulated,
• Gene location: 11p11.2 (47177124: 47164297)     Exons: 17     NC_000011.10
• OMIM: 604104

Protein Summary

• Protein general information: Q8N6H7  
  • Name: ADP ribosylation factor GTPase activating protein 2 (ARF GAP 2) (GTPase activating protein ZNF289) (Zinc finger protein 289)
  • Length: 521  
  • Mass: 56720
• Sequence:

  MAAEPNKTEIQTLFKRLRAVPTNKACFDCGAKNPSWASITYGVFLCIDCSGVHRSLGVHLSFIRSTELDSNWNWF
  QLRCMQVGGNANATAFFRQHGCTANDANTKYNSRAAQMYREKIRQLGSAALARHGTDLWIDNMSSAVPNHSPEKK
  DSDFFTEHTQPPAWDAPATEPSGTQQPAPSTESSGLAQPEHGPNTDLLGTSPKASLELKSSIIGKKKPAAAKKGL
  GAKKGLGAQKVSSQSFSEIERQAQVAEKLREQQAADAKKQAEESMVASMRLAYQELQIDRKKEEKKLQNLEGKKR
  EQAERLGMGLVSRSSVSHSVLSEMQVIEQETPVSAKSSRSQLDLFDDVGTFASGPPKYKDNPFSLGESFGSRWDT
  DAAWGMDRVEEKEPEVTISSIRPISERATNRREVESRSSGLESSEARQKFAGAKAISSDMFFGREVDAEYEARSR
  LQQLSGSSAISSSDLFGDMDGAHGAGSVSLGNVLPTADIAQFKQGVKSVAGKMAVLANGVMNSLQDRYGSY

• Structural information:
  • Protein Domains: (11..12-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR037278  IPR001164  IPR038508  
  • Prosite: PS50115
  • PDB: 2P57
  • PDBsum: 2P57
  • STRING: ENSP00000434442
• Other Databases: GeneCards:  ARFGAP2  Malacards:  ARFGAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048205	COPI coating of Golgi vesicle	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	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

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray