• Gene id: 378

Gene Summary

• Gene Symbol: ARF4   Gene   UCSC   Ensembl
• Aliases: ARF2
• Gene name: ADP ribosylation factor 4
• Alternate names: ADP-ribosylation factor 4, ADP-ribosylation factor 2,
• Gene location: 3p14.3 (57597343: 57571362)     Exons: 6     NC_000003.12
• Gene summary(Entrez): This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipa
• OMIM: 601177

SNPs

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs759981524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

Protein Summary

• Protein general information: P18085  
  • Name: ADP ribosylation factor 4
  • Length: 180  
  • Mass: 20511
• Sequence:

  MGLTISSLFSRLFGKKQMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNICFTVWDVGGQDRIR
  PLWKHYFQNTQGLIFVVDSNDRERIQEVADELQKMLLVDELRDAVLLLFANKQDLPNAMAISEMTDKLGLQSLRN
  RTWYVQATCATQGTGLYEGLDWLSNELSKR

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR006689  
  • Prosite: PS51417
  • PDB: 1Z6X
  • PDBsum: 1Z6X
  • DIP: 38214
  • STRING: ENSP00000306010
• Other Databases: GeneCards:  ARF4  Malacards:  ARF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0060996	dendritic spine development	IDA	biological process
GO:0043197	dendritic spine	IDA	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:0003924	GTPase activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	TAS	molecular function
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:0005829	cytosol	TAS	cellular component
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:0005829	cytosol	TAS	cellular component
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: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:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IGI	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IGI	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0045176	apical protein localization	IEA	biological process
GO:0060996	dendritic spine development	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099175	regulation of postsynapse organization	IEA	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IEA	biological process
GO:0050807	regulation of synapse organization	IEA	biological process
GO:0061512	protein localization to cilium	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0016477	cell migration	IDA	biological process
GO:0005154	epidermal growth factor receptor binding	IDA	molecular function
GO:0006471	protein ADP-ribosylation	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005525	GTP binding	IDA	molecular function
GO:2000377	regulation of reactive oxygen species metabolic process	IDA	biological process
GO:0031584	activation of phospholipase D activity	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
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)