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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50649
Gene name	Rho guanine nucleotide exchange factor 4
Gene symbol	ARHGEF4
Synonyms (NCBI Gene)	ASEFASEF1GEF4SMIM39STM6
Chromosome	2
Chromosome location	2q21.1
Summary	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent sig

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016987	hsa-miR-335-5p	Microarray	18185580
MIRT483087	hsa-miR-6507-5p	PAR-CLIP	23592263
MIRT483088	hsa-miR-513b-3p	PAR-CLIP	23592263
MIRT483085	hsa-miR-4761-5p	PAR-CLIP	23592263
MIRT483086	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT483087	hsa-miR-6507-5p	PAR-CLIP	23592263
MIRT483088	hsa-miR-513b-3p	PAR-CLIP	23592263
MIRT483085	hsa-miR-4761-5p	PAR-CLIP	23592263
MIRT483086	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT795953	hsa-miR-1207-5p	CLIP-seq
MIRT795954	hsa-miR-1256	CLIP-seq
MIRT795955	hsa-miR-136	CLIP-seq
MIRT795956	hsa-miR-1972	CLIP-seq
MIRT795957	hsa-miR-3160-3p	CLIP-seq
MIRT795958	hsa-miR-3679-3p	CLIP-seq
MIRT795959	hsa-miR-4252	CLIP-seq
MIRT795960	hsa-miR-4476	CLIP-seq
MIRT795961	hsa-miR-4487	CLIP-seq
MIRT795962	hsa-miR-4488	CLIP-seq
MIRT795963	hsa-miR-4493	CLIP-seq
MIRT795964	hsa-miR-4663	CLIP-seq
MIRT795965	hsa-miR-4697-5p	CLIP-seq
MIRT795966	hsa-miR-4717-5p	CLIP-seq
MIRT795967	hsa-miR-4720-5p	CLIP-seq
MIRT795968	hsa-miR-4736	CLIP-seq
MIRT795969	hsa-miR-4763-3p	CLIP-seq
MIRT795970	hsa-miR-4799-3p	CLIP-seq
MIRT795971	hsa-miR-515-5p	CLIP-seq
MIRT795972	hsa-miR-558	CLIP-seq
MIRT795973	hsa-miR-637	CLIP-seq
MIRT795974	hsa-miR-766	CLIP-seq
MIRT795975	hsa-miR-198	CLIP-seq
MIRT795976	hsa-miR-338-3p	CLIP-seq
MIRT795977	hsa-miR-4530	CLIP-seq
MIRT795978	hsa-miR-4709-3p	CLIP-seq
MIRT795953	hsa-miR-1207-5p	CLIP-seq
MIRT1935087	hsa-miR-134	CLIP-seq
MIRT795955	hsa-miR-136	CLIP-seq
MIRT1935088	hsa-miR-1914	CLIP-seq
MIRT1935089	hsa-miR-3118	CLIP-seq
MIRT1935090	hsa-miR-3141	CLIP-seq
MIRT1935091	hsa-miR-3182	CLIP-seq
MIRT795959	hsa-miR-4252	CLIP-seq
MIRT795962	hsa-miR-4488	CLIP-seq
MIRT795965	hsa-miR-4697-5p	CLIP-seq
MIRT795968	hsa-miR-4736	CLIP-seq
MIRT795969	hsa-miR-4763-3p	CLIP-seq
MIRT795971	hsa-miR-515-5p	CLIP-seq
MIRT1935092	hsa-miR-592	CLIP-seq
MIRT1935093	hsa-miR-597	CLIP-seq
MIRT795973	hsa-miR-637	CLIP-seq
MIRT1935094	hsa-miR-668	CLIP-seq
MIRT1935095	hsa-miR-943	CLIP-seq
MIRT2175020	hsa-miR-1207-3p	CLIP-seq
MIRT2175021	hsa-miR-1236	CLIP-seq
MIRT2175022	hsa-miR-1587	CLIP-seq
MIRT2175023	hsa-miR-2861	CLIP-seq
MIRT795957	hsa-miR-3160-3p	CLIP-seq
MIRT2175024	hsa-miR-378g	CLIP-seq
MIRT795961	hsa-miR-4487	CLIP-seq
MIRT2175025	hsa-miR-4492	CLIP-seq
MIRT2175026	hsa-miR-4498	CLIP-seq
MIRT2175027	hsa-miR-4656	CLIP-seq
MIRT795964	hsa-miR-4663	CLIP-seq
MIRT2175028	hsa-miR-4675	CLIP-seq
MIRT2175029	hsa-miR-4741	CLIP-seq
MIRT795972	hsa-miR-558	CLIP-seq
MIRT2175030	hsa-miR-661	CLIP-seq
MIRT2175031	hsa-miR-762	CLIP-seq
MIRT2441965	hsa-miR-1184	CLIP-seq
MIRT2441966	hsa-miR-3960	CLIP-seq
MIRT2441967	hsa-miR-644	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	17599059
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	10947987, 17145773, 17588722, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0019904	Function	Protein domain specific binding	IPI	10947987
GO:0030032	Process	Lamellipodium assembly	IEA
GO:0030032	Process	Lamellipodium assembly	IMP	17599059
GO:0032587	Component	Ruffle membrane	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046847	Process	Filopodium assembly	IEA
GO:0046847	Process	Filopodium assembly	IMP	17599059
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

MIM	HGNC	e!Ensembl
605216	684	ENSG00000136002

Q9NR80

Protein name

Rho guanine nucleotide exchange factor 4 (APC-stimulated guanine nucleotide exchange factor 1) (Asef) (Asef1)

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesi

PDB

2DX1 , 2PZ1 , 3NMX , 3NMZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00018	SH3_1	200 → 245	SH3 domain	Domain
PF00621	RhoGEF	288 → 466	RhoGEF domain	Domain
PF00169	PH	500 → 604	PH domain	Domain

Tissue specificity

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:0000269|PubMed:10873612, EC

Sequence

MPWEEPAGEKPSCSHSQKAFHMEPAQKPCFTTDMVTWALLCISAETVRGEAPSQPRGIPH
RSPVSVDDLWLEKTQRKKLQKQAHVERRLHIGAVHKDGVKCWRKTIITSPESLNLPRRSH
PLSQSAPTGLNHMGWPEHTPGTAMPDGALDTAVCADEVGSEEDLYDDLHSSSHHYSHPGG
GGEQLAINELISDGSVVCAEALWDHVTMDDQELGFKAGDVIEVMDATNREWWWGRVADGE
GWFPASFVRLRVNQDEPADDDAPLAGNSGAEDGGAEAQSSKDQMRTNVINEILSTERDYI
KHLRDICEGYVRQCRKRADMFSEEQLRTIFGNIEDIYRCQKAFVKALEQRFNRERPHLSE
LGACFLEHQADFQIYSEYCNNHPNACVELSRLTKLSKYVYFFEACRLLQKMIDISLDGFL
LTPVQKICKYPLQLAELLKYTHPQHRDFKDVEAALHAMKNVAQLINERKRRLENIDKIAQ
WQSSIEDWEGEDLLVRSSELIYSGELTRVTQPQAKSQQRMFFLFDHQLIYCKKDLLRRDV
LYYKGRLDMDGLEVVDLEDGKDRDLHVSIKNAFRLHRGATGDSHLLCTRKPEQKQRWLKA
FAREREQVQLDQETGFSITELQRKQAMLNASKQQVTGKPKAVGRPCYLTRQKHPALPSNR
PQQQVLVLAEPRRKPSTFWHSISRLAPFRK

Sequence length

690

Interactions

View interactions

	KEGG		Reactome
	Regulation of actin cytoskeleton		NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARHGEF4-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METASTATIC COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoma	Adenoma	BEFREE	17143298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17143298, 17572842, 29866653, 30095910, 30125942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35858526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	22543972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30821641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Capillary Leak Syndrome	Capillary leak syndrome	Pubtator	25539852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17704816, 24244701	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17145773, 19525225, 24244701, 27111221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29866653	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22543972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	29789371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	31527170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24312652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37949031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30226582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17143298, 29866653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30821641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28428959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	28428959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30226582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	25539852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGEF4 (Rho guanine nucleotide exchange factor 4)