• Gene id: 64283

Gene Summary

• Gene Symbol: ARHGEF28   Gene   UCSC   Ensembl
• Aliases: RGNEF, RIP2, p190RHOGEF
• Gene name: Rho guanine nucleotide exchange factor 28
• Alternate names: rho guanine nucleotide exchange factor 28, 190 kDa guanine nucleotide exchange factor, Rho guanine nucleotide exchange factor (GEF) 28, Rho interacting protein 2, p190-RhoGEF, rho-guanine nucleotide exchange factor,
• Gene location: 5q13.2 (73626157: 73941992)     Exons: 21     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alt
• OMIM: 612790

Protein Summary

• Protein general information: Q8N1W1  
  • Name: Rho guanine nucleotide exchange factor 28 (190 kDa guanine nucleotide exchange factor) (p190 RhoGEF) (p190RhoGEF) (Rho guanine nucleotide exchange factor)
  • Length: 1705  
  • Mass: 191891
• Sequence:

  MELSCSEAPLYGQMMIYAKFDKNVYLPEDAEFYFTYDGSHQRHVMIAERIEDNVLQSSVPGHGLQETVTVSVCLC
  SEGYSPVTMGSGSVTYVDNMACRLARLLVTQANRLTACSHQTLLTPFALTAGALPALDEELVLALTHLELPLEWT
  VLGSSSLEVSSHRESLLHLAMRWGLAKLSQFFLCLPGGVQALALPNEEGATPLDLALREGHSKLVEDVTNFQGRW
  SPSFSRVQLSEEASLHYIHSSETLTLTLNHTAEHLLEADIKLFRKYFWDRAFLVKAFEPEARPEERTAMPSSGAE
  TEEEIKNSVSSRSAAEKEDIKRVKSLVVQHNEHEDQHSLDLDRSFDILKKSKPPSTLLAAGRLSDMLNGGDEVYA
  NCMVIDQVGDLDISYINIEGITATTSPESRGCTLWPQSSKHTLPTETSPSVYPLSENVEGTAHTEAQQSFMSPSS
  SCASNLNLSFGWHGFEKEQSHLKKRSSSLDALDADSEGEGHSEPSHICYTPGSQSSSRTGIPSGDELDSFETNTE
  PDFNISRAESLPLSSNLQSKESLLSGVRSRSYSCSSPKISLGKTRLVRELTVCSSSEEQRAYSLSEPPRENRIQE
  EEWDKYIIPAKSESEKYKVSRTFSFLMNRMTSPRNKSKTKSKDAKDKEKLNRHQFAPGTFSGVLQCLVCDKTLLG
  KESLQCSNCNANVHKGCKDAAPACTKKFQEKYNKNKPQTILGNSSFRDIPQPGLSLHPSSSVPVGLPTGRRETVG
  QVHPLSRSVPGTTLESFRRSATSLESESDHNSCRSRSHSDELLQSMGSSPSTESFIMEDVVDSSLWSDLSSDAQE
  FEAESWSLVVDPSFCNRQEKDVIKRQDVIFELMQTEMHHIQTLFIMSEIFRKGMKEELQLDHSTVDKIFPCLDEL
  LEIHRHFFYSMKERRQESCAGSDRNFVIDRIGDILVQQFSEENASKMKKIYGEFCCHHKEAVNLFKELQQNKKFQ
  NFIKLRNSNLLARRRGIPECILLVTQRITKYPVLVERILQYTKERTEEHKDLRKALCLIKDMIATVDLKVNEYEK
  NQKWLEILNKIENKTYTKLKNGHVFRKQALMSEERTLLYDGLVYWKTATGRFKDILALLLTDVLLFLQEKDQKYI
  FAAVDQKPSVISLQKLIAREVANEERGMFLISASSAGPEMYEIHTNSKEERNNWMRRIQQAVESCPEEKGGRTSE
  SDEDKRKAEARVAKIQQCQEILTNQDQQICAYLEEKLHIYAELGELSGFEDVHLEPHLLIKPDPGEPPQAASLLA
  AALKEAESLQVAVKASQMGAVSQSCEDSCGDSVLADTLSSHDVPGSPTASLVTGGREGRGCSDVDPGIQGVVTDL
  AVSDAGEKVECRNFPGSSQSEIIQAIQNLTRLLYSLQAALTIQDSHIEIHRLVLQQQEGLSLGHSILRGGPLQDQ
  KSRDADRQHEELANVHQLQHQLQQEQRRWLRRCEQQQRAQATRESWLQERERECQSQEELLLRSRGELDLQLQEY
  QHSLERLREGQRLVEREQARMRAQQSLLGHWKHGRQRSLPAVLLPGGPEVMELNRSESLCHENSFFINEALVQMS
  FNTFNKLNPSVIHQDATYPTTQSHSDLVRTSEHQVDLKVDPSQPSNVSHKLWTAAGSGHQILPFHESSKDSCKND
  LDTSHTESPTPHDSNSHRPQLQAFITEAKLNLPTRTMTRQDGETGDGAKENIVYL

• Structural information:
  • Protein Domains: (849..104-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (1086..118-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037819  IPR035899  IPR000219  IPR002219  IPR011993   IPR041020  IPR001849  
  • Prosite: PS50010 PS50003 PS00479 PS50081
  • CDD: cd00029 cd14680 cd00160
  • PDB: 6BC0 6BC1
  • PDBsum: 6BC0 6BC1
  • STRING: ENSP00000441913
• Other Databases: GeneCards:  ARHGEF28  Malacards:  ARHGEF28

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000902	cell morphogenesis	IBA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0035023	regulation of Rho protein signal transduction	IBA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05135	Yersinia infection
P06959	CCKR signaling map

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq