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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64283
Gene name Gene Name - the full gene name approved by the HGNC.	Rho guanine nucleotide exchange factor 28
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ARHGEF28
Synonyms (NCBI Gene) Gene synonyms aliases	RGNEF, RIP2, p190RHOGEF
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(42)

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

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA	21873635
GO:0003723	Function	RNA binding	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	EXP	11058585
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0050790	Process	Regulation of catalytic activity	IEA

MIM	HGNC	e!Ensembl
612790	30322	ENSG00000214944

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733 View all (171 more)	27154192

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining
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)