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	29098
Gene name	RAN guanine nucleotide release factor
Gene symbol	RANGRF
Synonyms (NCBI Gene)	HSPC165HSPC236MOG1RANGNRF
Chromosome	17
Chromosome location	17p13.1
Summary	This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript vari

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments
MIRT1289828	hsa-miR-2355-5p	CLIP-seq
MIRT1289829	hsa-miR-3661	CLIP-seq
MIRT1289830	hsa-miR-4751	CLIP-seq
MIRT1289831	hsa-miR-492	CLIP-seq
MIRT1289832	hsa-miR-631	CLIP-seq
MIRT1289833	hsa-miR-935	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	TAS	21621375
GO:0003254	Process	Regulation of membrane depolarization	IEA
GO:0003254	Process	Regulation of membrane depolarization	IMP	23420830
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005515	Function	Protein binding	IPI	28514442, 32814053, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11290418
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	ISS
GO:0005737	Component	Cytoplasm	IDA	11290418
GO:0005737	Component	Cytoplasm	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IDA	23420830
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IC	18184654
GO:0005886	Component	Plasma membrane	IEA
GO:0005901	Component	Caveola	IDA	23420830
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	23420830
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS	18184654
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0017080	Function	Sodium channel regulator activity	IDA	18184654
GO:0017080	Function	Sodium channel regulator activity	IEA
GO:0017080	Function	Sodium channel regulator activity	IMP	23420830
GO:0031267	Function	Small GTPase binding	IBA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	11290418, 29040603
GO:0031267	Function	Small GTPase binding	ISS
GO:0032527	Process	Protein exit from endoplasmic reticulum	IMP	23420830
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	18184654
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060047	Process	Heart contraction	IBA
GO:0090307	Process	Mitotic spindle assembly	IMP	29040603
GO:0098905	Process	Regulation of bundle of His cell action potential	IMP	21621375
GO:0098909	Process	Regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	21621375
GO:0099103	Function	Channel activator activity	IDA	18184654
GO:1900825	Process	Regulation of membrane depolarization during cardiac muscle cell action potential	IBA
GO:1900825	Process	Regulation of membrane depolarization during cardiac muscle cell action potential	IMP	21621375
GO:1900825	Process	Regulation of membrane depolarization during cardiac muscle cell action potential	TAS	21621375
GO:1900827	Process	Positive regulation of membrane depolarization during cardiac muscle cell action potential	IDA	18184654
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	18184654
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IEA
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IMP	21621375, 23420830
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IMP	23420830
GO:2000010	Process	Positive regulation of protein localization to cell surface	IDA	18184654
GO:2000010	Process	Positive regulation of protein localization to cell surface	IMP	23420830

MIM	HGNC	e!Ensembl
607954	17679	ENSG00000108961

Q9HD47

Protein name

Ran guanine nucleotide release factor (RanGNRF) (Ran-binding protein MOG1)

Protein function

May regulate the intracellular trafficking of RAN (PubMed:11290418). Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1 (PubMed:29040603). Reg

PDB

5YFG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04603	Mog1	7 → 145	Ran-interacting Mog1 protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 2 are ubiquitously expressed (PubMed:11290418). Detected in heart and brain (PubMed:21621375). {ECO:0000269|PubMed:11290418, ECO:0000269|PubMed:21621375}.

Sequence

MEPTRDCPLFGGAFSAILPMGAIDVSDLRPVPDNQEVFCHPVTDQSLIVELLELQAHVRG
EAAARYHFEDVGGVQGARAVHVESVQPLSLENLALRGRCQEAWVLSGKQQIAKENQQVAK
DVTLHQALLRLPQYQTDLLLTFNQPPPDNRSSLGPENLSPAPWSLGDFEQLVTSLTLHDP
NIFGPQ

Sequence length

186

Interactions

View interactions

	Reactome
			Phase 0 - rapid depolarisation

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 (6)

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.
BRUGADA SYNDROME	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RANGRF-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	28796037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada syndrome	Brugada Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome	Brugada syndrome	Pubtator	26173111, 30282806, 31627867	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	18184654, 21447824, 21621375, 23420830, 24142675, 26903377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	21447824, 22284586, 24142675, 30282806, 31627867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	ORPHANET_DG	24142675		★★★★★ ★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27600827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Secondary	Hyperparathyroidism	Pubtator	27600827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	21447824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RANGRF (RAN guanine nucleotide release factor)