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	22899
Gene name	Rho guanine nucleotide exchange factor 15
Gene symbol	ARHGEF15
Synonyms (NCBI Gene)	ARGEF15E5Ephexin5Vsm-RhoGEF
Chromosome	17
Chromosome location	17p13.1
Summary	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for R

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1555546796	GTCCCCCGTCGGGCC>-	Likely-pathogenic	Inframe deletion, genic upstream transcript variant, upstream transcript variant, coding sequence variant

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments
MIRT795517	hsa-miR-3064-5p	CLIP-seq
MIRT795518	hsa-miR-3176	CLIP-seq
MIRT795519	hsa-miR-3652	CLIP-seq
MIRT795520	hsa-miR-3922-3p	CLIP-seq
MIRT795521	hsa-miR-4420	CLIP-seq
MIRT795522	hsa-miR-4430	CLIP-seq
MIRT795523	hsa-miR-4459	CLIP-seq
MIRT795524	hsa-miR-4505	CLIP-seq
MIRT795525	hsa-miR-665	CLIP-seq
MIRT795526	hsa-miR-892b	CLIP-seq
MIRT1934895	hsa-miR-1253	CLIP-seq
MIRT1934896	hsa-miR-1299	CLIP-seq
MIRT1934897	hsa-miR-3074-5p	CLIP-seq
MIRT1934898	hsa-miR-3182	CLIP-seq
MIRT1934899	hsa-miR-370	CLIP-seq
MIRT1934900	hsa-miR-4511	CLIP-seq
MIRT1934901	hsa-miR-4659a-3p	CLIP-seq
MIRT1934902	hsa-miR-4659b-3p	CLIP-seq
MIRT1934903	hsa-miR-4691-3p	CLIP-seq
MIRT1934904	hsa-miR-4782-5p	CLIP-seq
MIRT1934905	hsa-miR-516b	CLIP-seq
MIRT1934906	hsa-miR-7	CLIP-seq
MIRT1934907	hsa-miR-767-3p	CLIP-seq
MIRT1934908	hsa-miR-875-3p	CLIP-seq
MIRT795526	hsa-miR-892b	CLIP-seq
MIRT2174676	hsa-miR-2467-5p	CLIP-seq
MIRT2174677	hsa-miR-3188	CLIP-seq
MIRT2174678	hsa-miR-3929	CLIP-seq
MIRT2174679	hsa-miR-3975	CLIP-seq
MIRT2174680	hsa-miR-4419b	CLIP-seq
MIRT2174681	hsa-miR-4478	CLIP-seq
MIRT2174682	hsa-miR-4649-3p	CLIP-seq
MIRT2174683	hsa-miR-485-5p	CLIP-seq
MIRT2478121	hsa-miR-3688-3p	CLIP-seq
MIRT2478122	hsa-miR-3923	CLIP-seq
MIRT2478123	hsa-miR-4261	CLIP-seq
MIRT795525	hsa-miR-665	CLIP-seq
MIRT2675305	hsa-miR-1273g	CLIP-seq
MIRT2675306	hsa-miR-1286	CLIP-seq
MIRT2675307	hsa-miR-4722-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	12775584
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	12775584, 25416956, 26871637, 32296183
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042995	Component	Cell projection	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051496	Process	Positive regulation of stress fiber assembly	ISS
GO:0061299	Process	Retina vasculature morphogenesis in camera-type eye	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:2000297	Process	Negative regulation of synapse maturation	IEA
GO:2000297	Process	Negative regulation of synapse maturation	ISS

MIM	HGNC	e!Ensembl
608504	15590	ENSG00000198844

O94989

Protein name

Rho guanine nucleotide exchange factor 15 (Ephexin-5) (E5) (Vsm-RhoGEF)

Protein function

Specific GEF for RhoA activation. Does not activate RAC1 or CDC42. Regulates vascular smooth muscle contractility. Negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2. {ECO:0000269|PubMed:12

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	421 → 599	RhoGEF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the vascular smooth muscle of coronary artery. {ECO:0000269|PubMed:12775584}.

Sequence

MSAQSLPAATPPTQKPPRIIRPRPPSRSRAAQSPGPPHNGSSPQELPRNSNDAPTPMCTP
IFWEPPAASLKPPALLPPSASRASLDSQTSPDSPSSTPTPSPVSRRSASPEPAPRSPVPP
PKPSGSPCTPLLPMAGVLAQNGSASAPGTVRRLAGRFEGGAEGRAQDADAPEPGLQARAD
VNGEREAPLTGSGSQENGAPDAGLACPPCCPCVCHTTRPGLELRWVPVGGYEEVPRVPRR
ASPLRTSRSRPHPPSIGHPAVVLTSYRSTAERKLLPLLKPPKPTRVRQDATIFGDPPQPD
LDLLSEDGIQTGDSPDEAPQNTPPATVEGREEEGLEVLKEQNWELPLQDEPLYQTYRAAV
LSEELWGVGEDGSPSPANAGDAPTFPRPPGPRNTLWQELPAVQASGLLDTLSPQERRMQE
SLFEVVTSEASYLRSLRLLTDTFVLSQALRDTLTPRDHHTLFSNVQRVQGVSERFLATLL
SRVRSSPHISDLCDVVHAHAVGPFSVYVDYVRNQQYQEETYSRLMDTNVRFSAELRRLQS
LPKCERLPLPSFLLLPFQRITRLRMLLQNILRQTEEGSSRQENAQKALGAVSKIIERCSA
EVGRMKQTEELIRLTQRLRFHKVKALPLVSWSRRLEFQGELTELGCRRGGVLFASRPRFT
PLCLLLFSDLLLITQPKSGQRLQVLDYAHRSLVQAQQVPDPSGPPTFRLSLLSNHQGRPT
HRLLQASSLSDMQRWLGAFPTPGPLPCSPDTIYEDCDCSQELCSESSAPAKTEGRSLESR
AAPKHLHKTPEGWLKGLPGAFPAQLVCEVTGEHERRRHLRQNQRLLEAVGSSSGTPNAPP
P

Sequence length

841

Interactions

View interactions

	Reactome
			NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events

581

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Likely pathogenic	rs1555546796	RCV000585881

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ARHGEF15-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs559241646, rs199691980, rs137909519, rs112237413, rs185403108, rs76729434, rs537744294, rs138521691, rs113425529, rs115065009, rs138484229, rs372888591, rs1200503544, rs201714597, rs142705439	RCV003918915 RCV003977505 RCV003977692 RCV003930005 RCV003909010 RCV003932718 RCV003925330 RCV003972765 RCV003912816 RCV003925329 RCV003918017 RCV003928069 RCV003411628 RCV003965659 RCV003938252
Clear cell carcinoma of kidney	Likely benign	rs114491707	RCV005907023
Colorectal cancer	Uncertain significance	rs554267583	RCV005898433
Malignant tumor of urinary bladder	Likely benign	rs200647100	RCV005912850
Prostate cancer	Uncertain significance	rs193921031	RCV000149369
See cases	Benign; Likely benign	rs142119277	RCV001196973

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Pancreatic Ductal	Stimulate	27145964
Epilepsy Rolandic	Associate	29789371
Neoplasms	Associate	27145964
Pancreatic Neoplasms	Associate	27145964
Polypoidal Choroidal Vasculopathy	Associate	29789371

ARHGEF15 (Rho guanine nucleotide exchange factor 15)