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 variants. [provided by RefSeq, Apr 2010] See more...

Aliases for RANGRF Gene

Aliases for RANGRF Gene

  • RAN Guanine Nucleotide Release Factor 2 3 5
  • RANGNRF 2 3 4
  • MOG1 2 3 4
  • Ran Guanine Nucleotide Release Factor 3 4
  • Ran-Binding Protein MOG1 3 4
  • HSPC165 2 3
  • HSPC236 2 3
  • MOG1 Homolog (S. Cerevisiae) 2
  • MOG1 Homolog 3
  • RanGNRF 4
  • RANGRF 5

External Ids for RANGRF Gene

Previous GeneCards Identifiers for RANGRF Gene

  • GC17P008133
  • GC17P008087
  • GC17P008191

Summaries for RANGRF Gene

Entrez Gene Summary for RANGRF Gene

  • 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 variants. [provided by RefSeq, Apr 2010]

GeneCards Summary for RANGRF Gene

RANGRF (RAN Guanine Nucleotide Release Factor) is a Protein Coding gene. Diseases associated with RANGRF include Brugada Syndrome and Sick Sinus Syndrome. Among its related pathways are Phase 0 - rapid depolarisation and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and protein transporter activity.

UniProtKB/Swiss-Prot Summary for RANGRF Gene

  • 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). Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics (PubMed:29040603). Enhances the expression of SCN5A at the cell membrane in cardiomyocytes (PubMed:18184654, PubMed:23420830, PubMed:21621375).

Additional gene information for RANGRF Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RANGRF Gene

Genomics for RANGRF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RANGRF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RANGRF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RANGRF

Top Transcription factor binding sites by QIAGEN in the RANGRF gene promoter:
  • Bach1
  • C/EBPbeta
  • Chx10
  • FOXO4
  • MyoD
  • Pax-4a
  • RP58
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for RANGRF Gene

Genomic Locations for RANGRF Gene
chr17:8,288,654-8,290,092
(GRCh38/hg38)
Size:
1,439 bases
Orientation:
Plus strand
chr17:8,191,815-8,193,410
(GRCh37/hg19)
Size:
1,596 bases
Orientation:
Plus strand

Genomic View for RANGRF Gene

Genes around RANGRF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RANGRF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RANGRF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RANGRF Gene

Proteins for RANGRF Gene

  • Protein details for RANGRF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD47-MOG1_HUMAN
    Recommended name:
    Ran guanine nucleotide release factor
    Protein Accession:
    Q9HD47
    Secondary Accessions:
    • D3DTR6
    • Q68DI3
    • Q9BR68
    • Q9HD48
    • Q9NRU9
    • Q9P001
    • Q9P0P2

    Protein attributes for RANGRF Gene

    Size:
    186 amino acids
    Molecular mass:
    20448 Da
    Quaternary structure:
    • Monomer. Interacts with RAN, both RAN-GTP and RAN-GDP (PubMed:11290418, PubMed:29040603). Competes with RCC1 for a common binding site on RAN and thereby inhibits RCC1-mediated nucleotide exchange (PubMed:29040603). Forms a complex with RAN-GTP and RANBP1 (By similarity). Interacts with the cytoplasmic loop 2 of SCN5A (PubMed:18184654).
    SequenceCaution:
    • Sequence=AAF29129.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF87316.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Overexpression can rescue the trafficking defect caused by some SCN5A mutations that impair trafficking to the cell membrane.

    Three dimensional structures from OCA and Proteopedia for RANGRF Gene

    Alternative splice isoforms for RANGRF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RANGRF Gene

Post-translational modifications for RANGRF Gene

  • Ubiquitination at Lys113 and Lys120
  • Modification sites at PhosphoSitePlus

Other Protein References for RANGRF Gene

No data available for DME Specific Peptides for RANGRF Gene

Domains & Families for RANGRF Gene

Gene Families for RANGRF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RANGRF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RANGRF Gene

GenScript: Design optimal peptide antigens:
  • Ran-binding protein MOG1 (MOG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HD47

UniProtKB/Swiss-Prot:

MOG1_HUMAN :
  • Belongs to the MOG1 family.
Family:
  • Belongs to the MOG1 family.
genes like me logo Genes that share domains with RANGRF: view

Function for RANGRF Gene

Molecular function for RANGRF Gene

UniProtKB/Swiss-Prot 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). Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics (PubMed:29040603). Enhances the expression of SCN5A at the cell membrane in cardiomyocytes (PubMed:18184654, PubMed:23420830, PubMed:21621375).

Phenotypes From GWAS Catalog for RANGRF Gene

Gene Ontology (GO) - Molecular Function for RANGRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity ISS --
GO:0005087 Ran guanyl-nucleotide exchange factor activity ISS --
GO:0008536 Ran GTPase binding ISS --
GO:0017080 sodium channel regulator activity IMP 23420830
GO:0044325 ion channel binding IPI 18184654
genes like me logo Genes that share ontologies with RANGRF: view
genes like me logo Genes that share phenotypes with RANGRF: view

Human Phenotype Ontology for RANGRF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANGRF

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RANGRF Gene

Localization for RANGRF Gene

Subcellular locations from UniProtKB/Swiss-Prot for RANGRF Gene

Nucleus. Cytoplasm, perinuclear region. Cytoplasm. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Note=May shuttle between the nucleus and cytoplasm. {ECO:0000269 PubMed:11290418}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RANGRF gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
endoplasmic reticulum 4
extracellular 2
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RANGRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11290418
GO:0005654 nucleoplasm ISS --
GO:0005737 cytoplasm IEA,IDA 11290418
GO:0005791 rough endoplasmic reticulum IDA 23420830
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with RANGRF: view

Pathways & Interactions for RANGRF Gene

PathCards logo

SuperPathways for RANGRF Gene

genes like me logo Genes that share pathways with RANGRF: view

Pathways by source for RANGRF Gene

Gene Ontology (GO) - Biological Process for RANGRF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate TAS 21621375
GO:0003254 regulation of membrane depolarization IMP 23420830
GO:0006888 ER to Golgi vesicle-mediated transport IMP 23420830
GO:0015031 protein transport IEA --
GO:0032527 protein exit from endoplasmic reticulum IMP 23420830
genes like me logo Genes that share ontologies with RANGRF: view

No data available for SIGNOR curated interactions for RANGRF Gene

Drugs & Compounds for RANGRF Gene

(1) Drugs for RANGRF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RANGRF: view

Transcripts for RANGRF Gene

mRNA/cDNA for RANGRF Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANGRF

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RANGRF Gene

No ASD Table

Relevant External Links for RANGRF Gene

GeneLoc Exon Structure for
RANGRF

Expression for RANGRF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RANGRF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for RANGRF Gene

This gene is overexpressed in Ovary (15.6), Heart (9.5), and Lymph node (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RANGRF Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RANGRF

SOURCE GeneReport for Unigene cluster for RANGRF Gene:

Hs.408233

mRNA Expression by UniProt/SwissProt for RANGRF Gene:

Q9HD47-MOG1_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are ubiquitously expressed (PubMed:11290418). Detected in heart and brain (PubMed:21621375).

Evidence on tissue expression from TISSUES for RANGRF Gene

  • Blood(4.4)
  • Bone marrow(4.3)
  • Lung(4.2)
  • Nervous system(3.3)
  • Heart(2.4)
  • Muscle(2.3)
  • Lymph node(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with RANGRF: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RANGRF Gene

Orthologs for RANGRF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RANGRF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RANGRF 30 31
  • 98.92 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RANGRF 30 31
  • 88.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RANGRF 30 31
  • 86.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rangrf 30 17 31
  • 86.49 (n)
OneToMany
Gm10355 31
  • 86 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Rangrf 30
  • 86.13 (n)
Oppossum
(Monodelphis domestica)
Mammalia RANGRF 31
  • 46 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RANGRF 31
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rangrf 30
  • 55.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii rangrf 30 31
  • 52.27 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MOG1 31 33
  • 22 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G69680 30
  • 46.14 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0459600 30
  • 47.16 (n)
Species where no ortholog for RANGRF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RANGRF Gene

ENSEMBL:
Gene Tree for RANGRF (if available)
TreeFam:
Gene Tree for RANGRF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RANGRF: view image

Paralogs for RANGRF Gene

No data available for Paralogs for RANGRF Gene

Variants for RANGRF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RANGRF Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
646452 Uncertain Significance: Cardiac arrhythmia 8,289,540(+) G/A MISSENSE_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
652025 Uncertain Significance: Cardiac arrhythmia 8,289,591(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
664423 Uncertain Significance: Cardiac arrhythmia 8,288,846(+) A/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
721803 Likely Benign: not provided 8,289,553(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
750785 Likely Benign: not provided 8,289,040(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RANGRF Gene

Structural Variations from Database of Genomic Variants (DGV) for RANGRF Gene

Variant ID Type Subtype PubMed ID
nsv833353 CNV loss 17160897

Variation tolerance for RANGRF Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RANGRF Gene

Human Gene Mutation Database (HGMD)
RANGRF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RANGRF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RANGRF Gene

Disorders for RANGRF Gene

MalaCards: The human disease database

(6) MalaCards diseases for RANGRF Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome
  • right bundle branch block, st segment elevation, and sudden death syndrome
sick sinus syndrome
  • sinus node infection
cardiac arrhythmia
  • extrasystoles
right bundle branch block
  • right bundle branch block with left posterior fascicular block
long qt syndrome 1
  • lqt1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RANGRF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RANGRF Gene

Publications for RANGRF Gene

  1. Identification and characterization of the human MOG1 gene. (PMID: 11290418) Marfatia KA … Corbett AH (Gene 2001) 2 3 4
  2. Mitosis-specific acetylation tunes Ran effector binding for chromosome segregation. (PMID: 29040603) Bao X … Shi Y (Journal of molecular cell biology 2018) 3 4
  3. Brugada syndrome and p.E61X_RANGRF. (PMID: 24142675) Campuzano O … Brugada R (Cardiology journal 2014) 3 4
  4. MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. (PMID: 23420830) Chakrabarti S … Chen Q (Circulation. Arrhythmia and electrophysiology 2013) 3 4
  5. MOG1: a new susceptibility gene for Brugada syndrome. (PMID: 21447824) Kattygnarath D … Guicheney P (Circulation. Cardiovascular genetics 2011) 3 4

Products for RANGRF Gene

Sources for RANGRF Gene