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	128272
Gene name	Rho guanine nucleotide exchange factor 19
Gene symbol	ARHGEF19
Synonyms (NCBI Gene)	WGEF
Chromosome	1
Chromosome location	1p36.13
Summary	Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]

Show/Hide all (30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437989	hsa-miR-503-5p	Luciferase reporter assayWestern blotqRT-PCR	24405610
MIRT437989	hsa-miR-503-5p	Luciferase reporter assayWestern blotqRT-PCR	24405610
MIRT437989	hsa-miR-503-5p	Luciferase reporter assayWestern blotqRT-PCR	24405610
MIRT437989	hsa-miR-503-5p	Luciferase reporter assayWestern blotqRT-PCR	24405610
MIRT714809	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT714808	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT714807	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT714806	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT714809	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT714808	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT714807	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT714806	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT795608	hsa-miR-29a	CLIP-seq
MIRT795609	hsa-miR-29b	CLIP-seq
MIRT795610	hsa-miR-29c	CLIP-seq
MIRT795611	hsa-miR-3065-3p	CLIP-seq
MIRT795612	hsa-miR-767-5p	CLIP-seq
MIRT1934981	hsa-miR-296-5p	CLIP-seq
MIRT1934982	hsa-miR-3689d	CLIP-seq
MIRT1934983	hsa-miR-4428	CLIP-seq
MIRT2174759	hsa-miR-3150b-3p	CLIP-seq
MIRT2174760	hsa-miR-3619-3p	CLIP-seq
MIRT2174761	hsa-miR-3622b-5p	CLIP-seq
MIRT2174762	hsa-miR-4645-5p	CLIP-seq
MIRT2174763	hsa-miR-4673	CLIP-seq
MIRT2174764	hsa-miR-4689	CLIP-seq
MIRT2174765	hsa-miR-4755-3p	CLIP-seq
MIRT2174766	hsa-miR-4784	CLIP-seq
MIRT2174767	hsa-miR-4802-5p	CLIP-seq
MIRT2174768	hsa-miR-665	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	18256687, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IGI	20643356
GO:0042060	Process	Wound healing	IBA
GO:0042060	Process	Wound healing	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302

MIM	HGNC	e!Ensembl
612496	26604	ENSG00000142632

Q8IW93

Protein name

Rho guanine nucleotide exchange factor 19 (Ephexin-2)

Protein function

Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPase.

PDB

8YR7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	380 → 558	RhoGEF domain	Domain
PF14604	SH3_9	723 → 772	Variant SH3 domain	Domain

Sequence

MDCGPPATLQPHLTGPPGTAHHPVAVCQQESLSFAELPALKPPSPVCLDLFPVAPEELRA
PGSRWSLGTPAPLQGLLWPLSPGGSDTEITSGGMRPSRAGSWPHCPGAQPPALEGPWSPR
HTQPQRRASHGSEKKSAWRKMRVYQREEVPGCPEAHAVFLEPGQVVQEQALSTEEPRVEL
SGSTRVSLEGPERRRFSASELMTRLHSSLRLGRNSAARALISGSGTGAAREGKASGMEAR
SVEMSGDRVSRPAPGDSREGDWSEPRLDTQEEPPLGSRSTNERRQSRFLLNSVLYQEYSD
VASARELRRQQREEEGPGDEAEGAEEGPGPPRANLSPSSSFRAQRSARGSTFSLWQDIPD
VRGSGVLATLSLRDCKLQEAKFELITSEASYIHSLSVAVGHFLGSAELSECLGAQDKQWL
FSKLPEVKSTSERFLQDLEQRLEADVLRFSVCDVVLDHCPAFRRVYLPYVTNQAYQERTY
QRLLLENPRFPGILARLEESPVCQRLPLTSFLILPFQRITRLKMLVENILKRTAQGSEDE
DMATKAFNALKELVQECNASVQSMKRTEELIHLSKKIHFEGKIFPLISQARWLVRHGELV
ELAPLPAAPPAKLKLSSKAVYLHLFNDCLLLSRRKELGKFAVFVHAKMAELQVRDLSLKL
QGIPGHVFLLQLLHGQHMKHQFLLRARTESEKQRWISALCPSSPQEDKEVISEGEDCPQV
QCVRTYKALHPDELTLEKTDILSVRTWTSDGWLEGVRLADGEKGWVPQAYVEEISSLSAR
LRNLRENKRVTSATSKLGEAPV

Sequence length

802

Interactions

View interactions

	Reactome
			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 (10)

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.
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Intellectual Disability	Associate	24571439	★★★★★ ★☆☆☆☆ Found in Text Mining only

ARHGEF19 (Rho guanine nucleotide exchange factor 19)