• Gene id: 50649

Gene Summary

• Gene Symbol: ARHGEF4   Gene   UCSC   Ensembl
• Aliases: ASEF, ASEF1, GEF4, SMIM39, STM6
• Gene name: Rho guanine nucleotide exchange factor 4
• Alternate names: rho guanine nucleotide exchange factor 4, APC-stimulated guanine nucleotide exchange factor 1, Rho guanine nucleotide exchange factor (GEF) 4,
• Gene location: 2q21.1 (70931095: 70925578)     Exons: 12     NC_000023.11
• Gene summary(Entrez): Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent sig
• OMIM: 605216

Protein Summary

• Protein general information: Q9NR80  
  • Name: Rho guanine nucleotide exchange factor 4 (APC stimulated guanine nucleotide exchange factor 1) (Asef) (Asef1)
  • Length: 690  
  • Mass: 79067
  • Tissue specificity: Expressed at high levels in the brain, skeletal muscle and testis and at low levels in the kidney, lung, small intestine, ovary and prostate. Expression is aberrantly enhanced in most colorectal tumors. {ECO
• Sequence:

  MPWEEPAGEKPSCSHSQKAFHMEPAQKPCFTTDMVTWALLCISAETVRGEAPSQPRGIPHRSPVSVDDLWLEKTQ
  RKKLQKQAHVERRLHIGAVHKDGVKCWRKTIITSPESLNLPRRSHPLSQSAPTGLNHMGWPEHTPGTAMPDGALD
  TAVCADEVGSEEDLYDDLHSSSHHYSHPGGGGEQLAINELISDGSVVCAEALWDHVTMDDQELGFKAGDVIEVMD
  ATNREWWWGRVADGEGWFPASFVRLRVNQDEPADDDAPLAGNSGAEDGGAEAQSSKDQMRTNVINEILSTERDYI
  KHLRDICEGYVRQCRKRADMFSEEQLRTIFGNIEDIYRCQKAFVKALEQRFNRERPHLSELGACFLEHQADFQIY
  SEYCNNHPNACVELSRLTKLSKYVYFFEACRLLQKMIDISLDGFLLTPVQKICKYPLQLAELLKYTHPQHRDFKD
  VEAALHAMKNVAQLINERKRRLENIDKIAQWQSSIEDWEGEDLLVRSSELIYSGELTRVTQPQAKSQQRMFFLFD
  HQLIYCKKDLLRRDVLYYKGRLDMDGLEVVDLEDGKDRDLHVSIKNAFRLHRGATGDSHLLCTRKPEQKQRWLKA
  FAREREQVQLDQETGFSITELQRKQAMLNASKQQVTGKPKAVGRPCYLTRQKHPALPSNRPQQQVLVLAEPRRKP
  STFWHSISRLAPFRK

• Structural information:
  • Protein Domains: (194..25-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (284..46-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (499..60-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035899  IPR000219  IPR001331  IPR011993  IPR001849   IPR036028  IPR001452  
  • Prosite: PS00741 PS50010 PS50003 PS50002
  • CDD: cd00160
  • PDB: 2DX1 2PZ1 3NMX 3NMZ
  • PDBsum: 2DX1 2PZ1 3NMX 3NMZ
  • DIP: 40814
  • STRING: ENSP00000316845
• Other Databases: GeneCards:  ARHGEF4  Malacards:  ARHGEF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0030032	lamellipodium assembly	IMP	biological process
GO:0046847	filopodium assembly	IMP	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray