• Gene id: 10564

Gene Summary

• Gene Symbol: ARFGEF2   Gene   UCSC   Ensembl
• Aliases: BIG2, PVNH2, dJ1164I10.1
• Gene name: ADP ribosylation factor guanine nucleotide exchange factor 2
• Alternate names: brefeldin A-inhibited guanine nucleotide-exchange protein 2, ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited), brefeldin A-inhibited GEP 2,
• Gene location: 20q13.13 (49560698: 49599184)     Exons: 12     NC_000018.10
• Gene summary(Entrez): ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It
• OMIM: 605371

Protein Summary

• Protein general information: Q9Y6D5  
  • Name: Brefeldin A inhibited guanine nucleotide exchange protein 2 (Brefeldin A inhibited GEP 2) (ADP ribosylation factor guanine nucleotide exchange factor 2)
  • Length: 1785  
  • Mass: 202038
  • Tissue specificity: Expressed in placenta, lung, heart, brain, kidney and pancreas.
• Sequence:

  MQESQTKSMFVSRALEKILADKEVKRPQHSQLRRACQVALDEIKAEIEKQRLGTAAPPKANFIEADKYFLPFELA
  CQSKSPRVVSTSLDCLQKLIAYGHITGNAPDSGAPGKRLIDRIVETICSCFQGPQTDEGVQLQIIKALLTAVTSP
  HIEIHEGTILQTVRTCYNIYLASKNLINQTTAKATLTQMLNVIFTRMENQVLQEARELEKPIQSKPQSPVIQAAA
  VSPKFVRLKHSQAQSKPTTPEKTDLTNGEHARSDSGKVSTENGDAPRERGSSLSGTDDGAQEVVKDILEDVVTSA
  IKEAAEKHGLTEPERVLGELECQECAIPPGVDENSQTNGIADDRQSLSSADNLESDAQGHQVAARFSHVLQKDAF
  LVFRSLCKLSMKPLGEGPPDPKSHELRSKVVSLQLLLSVLQNAGPVFRTHEMFINAIKQYLCVALSKNGVSSVPD
  VFELSLAIFLTLLSNFKMHLKMQIEVFFKEIFLNILETSTSSFEHRWMVIQTLTRICADAQCVVDIYVNYDCDLN
  AANIFERLVNDLSKIAQGRSGHELGMTPLQELSLRKKGLECLVSILKCMVEWSKDLYVNPNHQTSLGQERLTDQE
  IGDGKGLDMARRCSVTSMESTVSSGTQTTVQDDPEQFEVIKQQKEIIEHGIELFNKKPKRGIQFLQEQGMLGTSV
  EDIAQFLHQEERLDSTQVGDFLGDSARFNKEVMYAYVDQLDFCEKEFVSALRTFLEGFRLPGEAQKIDRLMEKFA
  ARYIECNQGQTLFASADTAYVLAYSIIMLTTDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSSIYEEIEGK
  KIAMKETKELTIATKSTKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHAKAPFTSATHLDHVRPMFKLVWTP
  LLAAYSIGLQNCDDTEVASLCLEGIRCAIRIACIFGMQLERDAYVQALARFSLLTASSSITEMKQKNIDTIKTLI
  TVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKTRYLSGSGREREGSLKGHTLAGEEFMGLGLGNLVSGGVDK
  RQMASFQESVGETSSQSVVVAVDRIFTGSTRLDGNAIVDFVRWLCAVSMDELASPHHPRMFSLQKIVEISYYNMN
  RIRLQWSRIWHVIGDHFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKKNRSPTIR
  DMAIRCIAQMVNSQAANIRSGWKNIFAVFHQAASDHDGNIVELAFQTTCHIVTTIFQHHFPAAIDSFQDAVKCLS
  EFACNAAFPDTSMEAIRLIRFCGKYVSERPRVLQEYTSDDMNVAPGDRVWVRGWFPILFELSCIINRCKLDVRTR
  GLTVMFEIMKSYGHTFEKHWWQDLFRIVFRIFDNMKLPEQLSEKSEWMTTTCNHALYAICDVFTQFYEALNEVLL
  SDVFAQLQWCVKQDNEQLARSGTNCLENLVISNGEKFSPEVWDETCNCMLDIFKTTIPHVLLTWRPVGMEEDSSE
  KHLDVDLDRQSLSSIDKNPSERGQSQLSNPTDDSWKGRPYANQKLFASLLIKCVVQLELIQTIDNIVFYPATSKK
  EDAEHMVAAQQDTLDADIHIETEDQGMYKYMSSQHLFKLLDCLQESHSFSKAFNSNYEQRTVLWRAGFKGKSKPN
  LLKQETSSLACCLRILFRMYVDENRRDSWEEIQQRLLTVCSEALAYFITVNSESHREAWTSLLLLLLTKTLKIND
  EKFKAHASMYYPYLCEIMQFDLIPELRAVLRKFFLRIGVVYKIWIPEEPSQVPAALSPVW

• Structural information:
  • Protein Domains: (654..78-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189"-)
  • Interpro: IPR016024  IPR032629  IPR015403  IPR023394  IPR000904   IPR035999  IPR032691  
  • Prosite: PS50190
  • CDD: cd00171
  • PDB: 3L8N 3SWV
  • PDBsum: 3L8N 3SWV
  • DIP: 48794
  • STRING: ENSP00000360985
• Other Databases: GeneCards:  ARFGEF2  Malacards:  ARFGEF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005815	microtubule organizing center	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0034237	protein kinase A regulatory subunit binding	IDA	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0001881	receptor recycling	IDA	biological process
GO:0000139	Golgi membrane	IDA	cellular component
GO:0050811	GABA receptor binding	ISS	molecular function
GO:0032279	asymmetric synapse	ISS	cellular component
GO:0031410	cytoplasmic vesicle	ISS	cellular component
GO:0007032	endosome organization	IMP	biological process
GO:0006893	Golgi to plasma membrane transport	IMP	biological process
GO:0005879	axonemal microtubule	ISS	cellular component
GO:0005802	trans-Golgi network	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0032760	positive regulation of tumor necrosis factor production	IMP	biological process
GO:0032280	symmetric synapse	ISS	cellular component
GO:0010256	endomembrane system organization	IMP	biological process
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032012	regulation of ARF protein signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0006887	exocytosis	TAS	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0032280	symmetric synapse	IEA	cellular component
GO:0017022	myosin binding	IEA	molecular function
GO:0006887	exocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0050811	GABA receptor binding	IEA	molecular function
GO:0032279	asymmetric synapse	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005879	axonemal microtubule	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Periventricular nodular heterotopia	KEGG:H00270
Periventricular nodular heterotopia	KEGG:H00270
Periventricular nodular heterotopia	PMID:14647276
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray