Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64283
Gene name	Rho guanine nucleotide exchange factor 28
Gene symbol	ARHGEF28
Synonyms (NCBI Gene)	RGNEFRIP2p190RHOGEF
Chromosome	5
Chromosome location	5q13.2
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs188040167	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016811	hsa-miR-335-5p	Microarray	18185580
MIRT437514	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT495596	hsa-miR-6771-3p	PAR-CLIP	22291592
MIRT495595	hsa-miR-634	PAR-CLIP	22291592
MIRT495594	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495593	hsa-miR-4310	PAR-CLIP	22291592
MIRT495592	hsa-miR-7157-5p	PAR-CLIP	22291592
MIRT495591	hsa-miR-338-3p	PAR-CLIP	22291592
MIRT495596	hsa-miR-6771-3p	PAR-CLIP	22291592
MIRT495595	hsa-miR-634	PAR-CLIP	22291592
MIRT495594	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495593	hsa-miR-4310	PAR-CLIP	22291592
MIRT495592	hsa-miR-7157-5p	PAR-CLIP	22291592
MIRT495591	hsa-miR-338-3p	PAR-CLIP	22291592
MIRT444690	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT444689	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT444688	hsa-miR-4635	PAR-CLIP	22100165
MIRT444687	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444690	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT444689	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT444688	hsa-miR-4635	PAR-CLIP	22100165
MIRT444687	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT495596	hsa-miR-6771-3p	PAR-CLIP	22291592
MIRT495595	hsa-miR-634	PAR-CLIP	22291592
MIRT495594	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495593	hsa-miR-4310	PAR-CLIP	22291592
MIRT495592	hsa-miR-7157-5p	PAR-CLIP	22291592
MIRT495591	hsa-miR-338-3p	PAR-CLIP	22291592
MIRT495596	hsa-miR-6771-3p	PAR-CLIP	22291592
MIRT495595	hsa-miR-634	PAR-CLIP	22291592
MIRT495594	hsa-miR-1226-3p	PAR-CLIP	22291592
MIRT495593	hsa-miR-4310	PAR-CLIP	22291592
MIRT495592	hsa-miR-7157-5p	PAR-CLIP	22291592
MIRT495591	hsa-miR-338-3p	PAR-CLIP	22291592
MIRT444690	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT444689	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT444688	hsa-miR-4635	PAR-CLIP	22100165
MIRT444687	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444690	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT444689	hsa-miR-302a-5p	PAR-CLIP	22100165
MIRT444688	hsa-miR-4635	PAR-CLIP	22100165
MIRT444687	hsa-miR-203a-3p	PAR-CLIP	22100165

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0003723	Function	RNA binding	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	EXP	11058585
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0021955	Process	Central nervous system neuron axonogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA

MIM	HGNC	e!Ensembl
612790	30322	ENSG00000214944

Q8N1W1

Protein name

Rho guanine nucleotide exchange factor 28 (190 kDa guanine nucleotide exchange factor) (p190-RhoGEF) (p190RhoGEF) (Rho guanine nucleotide exchange factor)

Protein function

Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Also functions in fo

PDB

6BC0 , 6BC1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00130	C1_1	653 → 702	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00621	RhoGEF	853 → 1042	RhoGEF domain	Domain
PF17838	PH_16	1069 → 1188	PH domain	Domain

Sequence

MELSCSEAPLYGQMMIYAKFDKNVYLPEDAEFYFTYDGSHQRHVMIAERIEDNVLQSSVP
GHGLQETVTVSVCLCSEGYSPVTMGSGSVTYVDNMACRLARLLVTQANRLTACSHQTLLT
PFALTAGALPALDEELVLALTHLELPLEWTVLGSSSLEVSSHRESLLHLAMRWGLAKLSQ
FFLCLPGGVQALALPNEEGATPLDLALREGHSKLVEDVTNFQGRWSPSFSRVQLSEEASL
HYIHSSETLTLTLNHTAEHLLEADIKLFRKYFWDRAFLVKAFEPEARPEERTAMPSSGAE
TEEEIKNSVSSRSAAEKEDIKRVKSLVVQHNEHEDQHSLDLDRSFDILKKSKPPSTLLAA
GRLSDMLNGGDEVYANCMVIDQVGDLDISYINIEGITATTSPESRGCTLWPQSSKHTLPT
ETSPSVYPLSENVEGTAHTEAQQSFMSPSSSCASNLNLSFGWHGFEKEQSHLKKRSSSLD
ALDADSEGEGHSEPSHICYTPGSQSSSRTGIPSGDELDSFETNTEPDFNISRAESLPLSS
NLQSKESLLSGVRSRSYSCSSPKISLGKTRLVRELTVCSSSEEQRAYSLSEPPRENRIQE
EEWDKYIIPAKSESEKYKVSRTFSFLMNRMTSPRNKSKTKSKDAKDKEKLNRHQFAPGTF
SGVLQCLVCDKTLLGKESLQCSNCNANVHKGCKDAAPACTKKFQEKYNKNKPQTILGNSS
FRDIPQPGLSLHPSSSVPVGLPTGRRETVGQVHPLSRSVPGTTLESFRRSATSLESESDH
NSCRSRSHSDELLQSMGSSPSTESFIMEDVVDSSLWSDLSSDAQEFEAESWSLVVDPSFC
NRQEKDVIKRQDVIFELMQTEMHHIQTLFIMSEIFRKGMKEELQLDHSTVDKIFPCLDEL
LEIHRHFFYSMKERRQESCAGSDRNFVIDRIGDILVQQFSEENASKMKKIYGEFCCHHKE
AVNLFKELQQNKKFQNFIKLRNSNLLARRRGIPECILLVTQRITKYPVLVERILQYTKER
TEEHKDLRKALCLIKDMIATVDLKVNEYEKNQKWLEILNKIENKTYTKLKNGHVFRKQAL
MSEERTLLYDGLVYWKTATGRFKDILALLLTDVLLFLQEKDQKYIFAAVDQKPSVISLQK
LIAREVANEERGMFLISASSAGPEMYEIHTNSKEERNNWMRRIQQAVESCPEEKGGRTSE
SDEDKRKAEARVAKIQQCQEILTNQDQQICAYLEEKLHIYAELGELSGFEDVHLEPHLLI
KPDPGEPPQAASLLAAALKEAESLQVAVKASQMGAVSQSCEDSCGDSVLADTLSSHDVPG
SPTASLVTGGREGRGCSDVDPGIQGVVTDLAVSDAGEKVECRNFPGSSQSEIIQAIQNLT
RLLYSLQAALTIQDSHIEIHRLVLQQQEGLSLGHSILRGGPLQDQKSRDADRQHEELANV
HQLQHQLQQEQRRWLRRCEQQQRAQATRESWLQERERECQSQEELLLRSRGELDLQLQEY
QHSLERLREGQRLVEREQARMRAQQSLLGHWKHGRQRSLPAVLLPGGPEVMELNRSESLC
HENSFFINEALVQMSFNTFNKLNPSVIHQDATYPTTQSHSDLVRTSEHQVDLKVDPSQPS
NVSHKLWTAAGSGHQILPFHESSKDSCKNDLDTSHTESPTPHDSNSHRPQLQAFITEAKL
NLPTRTMTRQDGETGDGAKENIVYL

Sequence length

1705

Interactions

View interactions

	KEGG		Reactome
	Yersinia infection		EPHB-mediated forward signaling

110

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ARHGEF28-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs369396839, rs199636589, rs557233944, rs202147794, rs754933332, rs746487828, rs368576535, rs375000790, rs200289106, rs200317068, rs572242968, rs1258095049, rs371272526, rs748926669, rs780509291 View all (81 more)	RCV003410142 RCV003410147 RCV003963724 RCV003918973 RCV003410206 RCV003954023 RCV003396885 RCV003973775 RCV003906680 RCV003420644 RCV004750373 RCV003399686 RCV003399781 RCV003427759 RCV003419161 RCV003419252 RCV003410746 RCV003393057 RCV003405959 RCV003405982 RCV003406015 RCV003427954 RCV003399891 RCV003397485 RCV003408812 RCV003410888 RCV003414135 RCV003392809 RCV003418758 RCV003429060 RCV003402703 RCV003402704 RCV003420901 RCV003898974 RCV003896802 RCV003896964 RCV003897024 RCV003894541 RCV003921515 RCV003921521 RCV003921751 RCV003907340 RCV003923927 RCV003929578 RCV003893881 RCV003893962 RCV003902161 RCV003904674 RCV003901717 RCV003967268 RCV003979416 RCV003979460 RCV003899222 RCV003901391 RCV003899612 RCV003911529 RCV003911540 RCV003909660 RCV003909844 RCV003913827 RCV003913888 RCV003914003 RCV003924612 RCV003943987 RCV003959660 RCV003919474 RCV003929436 RCV003941675 RCV003939656 RCV003951579 RCV003951828 RCV003914391 RCV003914490 RCV003936926 RCV003951444 RCV003944756 RCV003931967 RCV003934171 RCV003942183 RCV003942233 RCV003946941 RCV003952308 RCV003956653 RCV003983590 RCV003957301 RCV003947284 RCV003969535 RCV003967037 RCV003969409 RCV003961867 RCV003925981 RCV003910479 RCV003968314 RCV003910839 RCV003970376 RCV003923314 RCV003936269
Hepatocellular carcinoma	Benign	rs2973528	RCV005923536
Lung cancer	Benign	rs2973528	RCV005923537
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs200557234, rs200317068, rs61739928, rs61756686, rs368848188	RCV004572829 RCV004572899 RCV004573424 RCV004573430 RCV004573529
Ovarian cancer	Likely benign	rs760502222	RCV005933298
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	rs7712814, rs780509291, rs760502222	RCV005924822 RCV005932795 RCV005933299
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs780509291	RCV005932796

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Charcot Marie Tooth disease X linked recessive 2	Associate	31167812
Colonic Neoplasms	Associate	25922072
Colorectal Neoplasms	Associate	29358861
Esophageal Neoplasms	Associate	39287291
Familial medullary thyroid carcinoma	Associate	37175943
Glioblastoma	Associate	32693062
Idiopathic Pulmonary Fibrosis	Associate	29066090
Leukemia	Associate	32693062
Neoplasms	Associate	25922072
Thyroid Cancer Papillary	Associate	37175943

ARHGEF28 (Rho guanine nucleotide exchange factor 28)