ARHGEF19 (Rho guanine nucleotide exchange factor 19)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• 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]

miRNA Show/Hide all (30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437989	hsa-miR-503-5p	Luciferase reporter assay, Western blot, qRT-PCR	24405610
MIRT437989	hsa-miR-503-5p	Luciferase reporter assay, Western blot, qRT-PCR	24405610
MIRT437989	hsa-miR-503-5p	Luciferase reporter assay, Western blot, qRT-PCR	24405610
MIRT437989	hsa-miR-503-5p	Luciferase reporter assay, Western blot, qRT-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

Gene ontology (GO) 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

Other IDs

• MIM: 612496
• HGNC: 26604
• e!Ensembl: ENSG00000142632

Protein

• UniProt ID: 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

Pathways

Reactome Pathway

NRAGE signals death through JNK

Rho GTPase cycle

G alpha (12/13) signalling events

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (10)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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	35047847	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma of lung	Lung carcinoma	BEFREE	29164615		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24571439	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29164615		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28911167		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29164615		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ARHGEF33 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. NET1 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. FGD4 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. ECT2 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle. FGD2 3 shared pathwaysNRAGE signals death through JNK, Rho GTPase cycle, G alpha (12/13) signalling events Related via 3 shared pathways including NRAGE signals death through JNK, Rho GTPase cycle.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ARHGEF33	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
NET1	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
FGD4	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
ECT2	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]
FGD2	0	[]	3	["NRAGE signals death through JNK","Rho GTPase cycle","G alpha (12\/13) signalling events"]	0	[]

Diseases Linked via Similar Genes

Cerebral atherosclerosis Linked via 1 of 5 related genesFGD4 Charcot-marie-tooth disease Linked via 1 of 5 related genesFGD4 Dejerine-sottas disease Linked via 1 of 5 related genesFGD4 Hereditary motor and sensory neuropathies Linked via 1 of 5 related genesFGD4 Hypertension Linked via 1 of 5 related genesFGD4

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cerebral atherosclerosis	1	["FGD4"]
Charcot-marie-tooth disease	1	["FGD4"]
Dejerine-sottas disease	1	["FGD4"]
Hereditary motor and sensory neuropathies	1	["FGD4"]
Hypertension	1	["FGD4"]