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.	9181
Gene name Gene Name - the full gene name approved by the HGNC.	Rho/Rac guanine nucleotide exchange factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ARHGEF2
Synonyms (NCBI Gene) Gene synonyms aliases	GEF, GEF-H1, GEFH1, LFP40, Lfc, NEDMHM, P40
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q22
Summary Summary of gene provided in NCBI Entrez Gene.	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alterna

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1114167454	C>-	Pathogenic	Splice donor variant, coding sequence variant

Show/Hide all(75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018030	hsa-miR-335-5p	Microarray	18185580
MIRT027914	hsa-miR-96-5p	Sequencing	20371350
MIRT044440	hsa-miR-320a	CLASH	23622248
MIRT044440	hsa-miR-320a	CLASH	23622248
MIRT042542	hsa-miR-423-3p	CLASH	23622248
MIRT037439	hsa-miR-744-5p	CLASH	23622248
MIRT037159	hsa-miR-877-3p	CLASH	23622248
MIRT456328	hsa-miR-4475	PAR-CLIP	23592263
MIRT456327	hsa-miR-942-3p	PAR-CLIP	23592263
MIRT456326	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT456325	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT456324	hsa-miR-4784	PAR-CLIP	23592263
MIRT456323	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT456322	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT456321	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT456320	hsa-miR-5194	PAR-CLIP	23592263
MIRT456319	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT456318	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456317	hsa-miR-6086	PAR-CLIP	23592263
MIRT456316	hsa-miR-3173-5p	PAR-CLIP	23592263
MIRT456315	hsa-miR-6799-3p	PAR-CLIP	23592263
MIRT456314	hsa-miR-1291	PAR-CLIP	23592263
MIRT456313	hsa-miR-6775-3p	PAR-CLIP	23592263
MIRT456312	hsa-miR-6851-3p	PAR-CLIP	23592263
MIRT456311	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456310	hsa-miR-8085	PAR-CLIP	23592263
MIRT456309	hsa-miR-3175	PAR-CLIP	23592263
MIRT456308	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT456307	hsa-miR-1226-5p	PAR-CLIP	23592263
MIRT456306	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT456305	hsa-miR-328-3p	PAR-CLIP	23592263
MIRT456304	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT456328	hsa-miR-4475	PAR-CLIP	23592263
MIRT456327	hsa-miR-942-3p	PAR-CLIP	23592263
MIRT456326	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT456325	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT456324	hsa-miR-4784	PAR-CLIP	23592263
MIRT456323	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT456322	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT456321	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT456320	hsa-miR-5194	PAR-CLIP	23592263
MIRT456319	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT456318	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT456317	hsa-miR-6086	PAR-CLIP	23592263
MIRT456316	hsa-miR-3173-5p	PAR-CLIP	23592263
MIRT456315	hsa-miR-6799-3p	PAR-CLIP	23592263
MIRT456314	hsa-miR-1291	PAR-CLIP	23592263
MIRT456313	hsa-miR-6775-3p	PAR-CLIP	23592263
MIRT456312	hsa-miR-6851-3p	PAR-CLIP	23592263
MIRT456311	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT456310	hsa-miR-8085	PAR-CLIP	23592263
MIRT456309	hsa-miR-3175	PAR-CLIP	23592263
MIRT456308	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT456307	hsa-miR-1226-5p	PAR-CLIP	23592263
MIRT456306	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT456305	hsa-miR-328-3p	PAR-CLIP	23592263
MIRT456304	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT795613	hsa-miR-3190	CLIP-seq
MIRT795614	hsa-miR-4663	CLIP-seq
MIRT795615	hsa-miR-628-5p	CLIP-seq
MIRT795616	hsa-miR-361-3p	CLIP-seq
MIRT795617	hsa-miR-4436b-5p	CLIP-seq
MIRT795618	hsa-miR-4668-3p	CLIP-seq
MIRT795619	hsa-miR-548c-3p	CLIP-seq
MIRT795620	hsa-miR-605	CLIP-seq
MIRT2174769	hsa-miR-3065-5p	CLIP-seq
MIRT2174770	hsa-miR-4773	CLIP-seq
MIRT2174771	hsa-miR-154	CLIP-seq
MIRT2675309	hsa-miR-1915	CLIP-seq
MIRT2675310	hsa-miR-2964a-5p	CLIP-seq
MIRT2675311	hsa-miR-4474-3p	CLIP-seq
MIRT2675312	hsa-miR-4642	CLIP-seq
MIRT2675313	hsa-miR-4726-3p	CLIP-seq
MIRT2675314	hsa-miR-609	CLIP-seq
MIRT2675315	hsa-miR-663b	CLIP-seq

Show/Hide all(63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IBA
GO:0000902	Process	Cell morphogenesis	IMP	11912491
GO:0002376	Process	Immune system process	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	9857026
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	14970201, 15161933, 19043560, 21887730, 25416956, 25609649, 28514442, 31515488, 32296183, 33961781, 34591642, 35271311, 36931259
GO:0005515	Function	Protein binding	ISS
GO:0005737	Component	Cytoplasm	IDA	21887730
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IDA	21887730
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	9857026, 21525035
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006886	Process	Intracellular protein transport	NAS	9857026
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IMP	9857026
GO:0007026	Process	Negative regulation of microtubule depolymerization	IMP	11912491
GO:0007399	Process	Nervous system development	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	9857026
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	11912491
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031267	Function	Small GTPase binding	IDA	9857026
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031982	Component	Vesicle	IDA	21887730
GO:0032587	Component	Ruffle membrane	IBA
GO:0032587	Component	Ruffle membrane	IDA	19043560
GO:0032587	Component	Ruffle membrane	IEA
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	21887730
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	21887730
GO:0032991	Component	Protein-containing complex	IDA	21887730
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0035023	Process	Regulation of Rho protein signal transduction	NAS	11912491
GO:0042127	Process	Regulation of cell population proliferation	TAS	9857026
GO:0042995	Component	Cell projection	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IBA
GO:0045666	Process	Positive regulation of neuron differentiation	IDA	28453519
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21887730
GO:0046872	Function	Metal ion binding	IEA
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	21887730
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	19043560, 21887730
GO:0051301	Process	Cell division	IEA
GO:0055059	Process	Asymmetric neuroblast division	IDA	28453519
GO:0060546	Process	Negative regulation of necroptotic process	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0071225	Process	Cellular response to muramyl dipeptide	IDA	21887730
GO:0071356	Process	Cellular response to tumor necrosis factor	ISS
GO:0071474	Process	Cellular hyperosmotic response	ISS
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS
GO:1902219	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	ISS
GO:2001224	Process	Positive regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
607560	682	ENSG00000116584

Protein

UniProt ID

Q92974

Protein name

Rho guanine nucleotide exchange factor 2 (Guanine nucleotide exchange factor H1) (GEF-H1) (Microtubule-regulated Rho-GEF) (Proliferating cell nucleolar antigen p40)

Protein function

Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regul

PDB

5EFX , 7G80 , 7G81 , 7G82 , 7G83 , 7G84 , 7G85 , 7G86 , 7G87 , 7G88 , 7G89 , 7G8A , 7G8B , 7G8C , 7G8D , 7G8E , 7G8F , 7G8G , 7G8H , 7G8I , 7G8J , 7G8K , 7G8L , 7G8M , 7G8N , 7G8O , 7G8P , 7G8Q , 7G8R , 7G8S , 7G8T , 7G8U , 7G8V , 7G8W , 7G8X , 7G8Y , 7G8Z , 7G90 , 7G91 , 7G92 , 7G93 , 7G94 , 7G95 , 7G96 , 7G97 , 7G98 , 7G99 , 7G9A , 7G9B , 7G9C , 7G9D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	239 → 430	RhoGEF domain	Domain
PF17838	PH_16	458 → 571	PH domain	Domain

Sequence

MSRIESLTRARIDRSRELASKTREKEKMKEAKDARYTNGHLFTTISVSGMTMCYACNKSI
TAKEALICPTCNVTIHNRCKDTLANCTKVKQKQQKAALLKNNTALQSVSLRSKTTIRERP
SSAIYPSDSFRQSLLGSRRGRSSLSLAKSVSTTNIAGHFNDESPLGLRRILSQSTDSLNM
RNRTLSVESLIDEAEVIYSELMSDFEMDEKDFAADSWSLAVDSSFLQQHKKEVMKQQDVI
YELIQTELHHVRTLKIMTRLFRTGMLEELHLEPGVVQGLFPCVDELSDIHTRFLSQLLER
RRQALCPGSTRNFVIHRLGDLLISQFSGPSAEQMCKTYSEFCSRHSKALKLYKELYARDK
RFQQFIRKVTRPAVLKRHGVQECILLVTQRITKYPLLISRILQHSHGIEEERQDLTTALG
LVKELLSNVDEGIYQLEKGARLQEIYNRMDPRAQTPVPGKGPFGREELLRRKLIHDGCLL
WKTATGRFKDVLVLLMTDVLVFLQEKDQKYIFPTLDKPSVVSLQNLIVRDIANQEKGMFL
ISAAPPEMYEVHTASRDDRSTWIRVIQQSVRTCPSREDFPLIETEDEAYLRRIKMELQQK
DRALVELLREKVGLFAEMTHFQAEEDGGSGMALPTLPRGLFRSESLESPRGERLLQDAIR
EVEGLKDLLVGPGVELLLTPREPALPLEPDSGGNTSPGVTANGEARTFNGSIELCRADSD
SSQRDRNGNQLRSPQEEALQRLVNLYGLLHGLQAAVAQQDTLMEARFPEGPERREKLCRA
NSRDGEAGRAGAAPVAPEKQATELALLQRQHALLQEELRRCRRLGEERATEAGSLEARLR
ESEQARALLEREAEEARRQLAALGQTEPLPAEAPWARRPVDPRRRSLPAGDALYLSFNPP
QPSRGTDRLDLPVTTRSVHRNFEDRERQELGSPEERLQDSSDPDTGSEEEGSSRLSPPHS
PRDFTRMQDIPEETESRDGEAVASES

Sequence length

986

Interactions

View interactions

	KEGG		Reactome
	Tight junction Pathogenic Escherichia coli infection Shigellosis Fluid shear stress and atherosclerosis		NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	neurodevelopmental disorder with midbrain and hindbrain malformations	rs1114167454	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
Parkinson disease	Parkinson disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aarskog Syndrome	Associate	12771149, 20045932
Brain Diseases	Associate	35174982
Breast Neoplasms	Associate	22002306, 22174609, 22513363, 22960035, 23380069, 27185877
Carcinoma Hepatocellular	Associate	30637779, 35896520
Carcinoma Non Small Cell Lung	Associate	33754027
Carcinoma Squamous Cell	Stimulate	23512329
Carcinosarcoma	Associate	34745385
Cholesterol pneumonia	Associate	37774976
Colonic Neoplasms	Associate	25922072
Colorectal Neoplasms	Associate	26916336, 30846413, 37193711
Congenital Abnormalities	Associate	35174982
Developmental Disabilities	Associate	35174982
Drug Related Side Effects and Adverse Reactions	Associate	22174609
Epilepsy	Associate	29106825
Glaucoma Angle Closure	Associate	32339198
Heart Diseases	Associate	30622143
Inflammation	Associate	30622143
Intellectual Disability	Associate	27009485, 29106825
Leukocyte adhesion deficiency type 1	Inhibit	17576779
Leukoencephalopathies	Associate	26285592
Lung Neoplasms	Associate	34731623
Lymphatic Metastasis	Associate	23512329
Melanoma	Associate	20803552
Muscle Hypotonia	Associate	29106825, 35174982
Muscle Weakness	Associate	35174982
Neoplasm Metastasis	Associate	22002306
Neoplasm Metastasis	Stimulate	30846413
Neoplasms	Associate	23512329, 25723869, 25922072, 26916336, 27835861, 29454349, 30637779, 30846413, 31553907, 33060649, 34731623
Neoplasms	Stimulate	35896520
Neoplasms Squamous Cell	Associate	23512329
Obesity	Associate	29115457
Pancreatic Neoplasms	Associate	27835861, 28656876
Prostatic Neoplasms	Associate	36335093
Prostatic Neoplasms Castration Resistant	Associate	36335093
Radial Neuropathy	Associate	30305100
Somnambulism	Associate	35174982
Speech Disorders	Associate	35174982
Stomach Neoplasms	Associate	18827818
Thakker Donnai syndrome	Associate	35174982
Vision Disorders	Associate	29106825

ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2)