Aliases for RNF207 Gene

Aliases for RNF207 Gene

  • Ring Finger Protein 207 2 3 5
  • RING Finger Protein 207 3 4
  • C1orf188 3 4
  • Chromosome 1 Open Reading Frame 188 2
  • OTTHUMG00000001089 2
  • FLJ46380 2
  • FLJ32096 2
  • RNF207 5

External Ids for RNF207 Gene

Previous HGNC Symbols for RNF207 Gene

  • C1orf188

Previous GeneCards Identifiers for RNF207 Gene

  • GC01P006188
  • GC01P006265
  • GC01P005414

Summaries for RNF207 Gene

GeneCards Summary for RNF207 Gene

RNF207 (Ring Finger Protein 207) is a Protein Coding gene. Diseases associated with RNF207 include Long Qt Syndrome and Posterior Myocardial Infarction. Gene Ontology (GO) annotations related to this gene include ion channel binding and Hsp70 protein binding.

UniProtKB/Swiss-Prot Summary for RNF207 Gene

  • Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF207 Gene

Genomics for RNF207 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RNF207 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 RNF207 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF207

Top Transcription factor binding sites by QIAGEN in the RNF207 gene promoter:
  • Egr-1
  • Egr-4
  • ER-alpha
  • GR
  • GR-alpha
  • GR-beta
  • MIF-1
  • p53
  • Pax-2
  • Pax-2a

Genomic Locations for RNF207 Gene

Latest Assembly
chr1:6,205,475-6,221,299
(GRCh38/hg38)
Size:
15,825 bases
Orientation:
Plus strand

Previous Assembly
chr1:6,266,179-6,281,359
(GRCh37/hg19 by Entrez Gene)
Size:
15,181 bases
Orientation:
Plus strand

chr1:6,265,535-6,281,359
(GRCh37/hg19 by Ensembl)
Size:
15,825 bases
Orientation:
Plus strand

Genomic View for RNF207 Gene

Genes around RNF207 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF207 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF207 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF207 Gene

Proteins for RNF207 Gene

  • Protein details for RNF207 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRF8-RN207_HUMAN
    Recommended name:
    RING finger protein 207
    Protein Accession:
    Q6ZRF8
    Secondary Accessions:
    • A2VCM8
    • B4DFR6
    • Q5TGS6
    • Q6ZS63
    • Q96MP2

    Protein attributes for RNF207 Gene

    Size:
    634 amino acids
    Molecular mass:
    70861 Da
    Quaternary structure:
    • Interacts with the core-glycosylated, but not the fully glycosylated form of KCNH2/HERG. Interacts with DNAJA1 and HSPA8. Interacts (via the C-terminus) with HSPA1A; this interaction additively increases KCNH2 expression.
    SequenceCaution:
    • Sequence=AAI28238.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF207 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF207 Gene

Post-translational modifications for RNF207 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNF207 Gene

No data available for DME Specific Peptides for RNF207 Gene

Domains & Families for RNF207 Gene

Gene Families for RNF207 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RNF207 Gene

InterPro:
Blocks:
  • Zn-finger, RING
ProtoNet:

Suggested Antigen Peptide Sequences for RNF207 Gene

GenScript: Design optimal peptide antigens:
  • RING finger protein 207 (RN207_HUMAN)
genes like me logo Genes that share domains with RNF207: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RNF207 Gene

Function for RNF207 Gene

Molecular function for RNF207 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner.

Phenotypes From GWAS Catalog for RNF207 Gene

Gene Ontology (GO) - Molecular Function for RNF207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25281747
GO:0008270 zinc ion binding IEA --
GO:0030544 Hsp70 protein binding IPI 25281747
GO:0044325 ion channel binding IPI 25281747
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF207: view
genes like me logo Genes that share phenotypes with RNF207: view

Animal Models for research

  • Taconic Biosciences Mouse Models for RNF207

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF207

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNF207 Gene

Localization for RNF207 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF207 Gene

Cytoplasm. Note=Probably located in the endoplasmic reticulum and/or possibly the cis-Golgi apparatus. {ECO:0000269 PubMed:25281747}.

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 RNF207 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNF207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0048471 perinuclear region of cytoplasm IMP 25281747
genes like me logo Genes that share ontologies with RNF207: view

Pathways & Interactions for RNF207 Gene

PathCards logo

SuperPathways for RNF207 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RNF207 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010628 positive regulation of gene expression IMP 25281747
GO:0055117 regulation of cardiac muscle contraction ISS --
GO:0086019 cell-cell signaling involved in cardiac conduction ISS --
GO:1901207 regulation of heart looping ISS --
GO:1902261 positive regulation of delayed rectifier potassium channel activity IGI 25281747
genes like me logo Genes that share ontologies with RNF207: view

No data available for Pathways by source and SIGNOR curated interactions for RNF207 Gene

Drugs & Compounds for RNF207 Gene

No Compound Related Data Available

Transcripts for RNF207 Gene

mRNA/cDNA for RNF207 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF207

Alternative Splicing Database (ASD) splice patterns (SP) for RNF207 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14
SP1: - -
SP2:
SP3: - -
SP4: -
SP5:

Relevant External Links for RNF207 Gene

GeneLoc Exon Structure for
RNF207

Expression for RNF207 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF207 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RNF207 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.1) and Heart - Atrial Appendage (x4.4).

Protein differential expression in normal tissues from HIPED for RNF207 Gene

This gene is overexpressed in Spinal cord (67.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RNF207 Gene



Protein tissue co-expression partners for RNF207 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF207

SOURCE GeneReport for Unigene cluster for RNF207 Gene:

Hs.716549

Evidence on tissue expression from TISSUES for RNF207 Gene

  • Nervous system(4.6)
  • Heart(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with RNF207: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF207 Gene

Orthologs for RNF207 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF207 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RNF207 30 31
  • 99.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RNF207 30 31
  • 87.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RNF207 30 31
  • 86.34 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rnf207 30 17 31
  • 83.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rnf207 30
  • 82.72 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RNF207 31
  • 71 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RNF207 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RNF207 30 31
  • 72.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RNF207 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rnf207 30
  • 64.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii rnf207b 30 31
  • 64.47 (n)
OneToMany
RNF207 (2 of 2) 31
  • 54 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F47G9.4 30 31
  • 41.23 (n)
OneToOne
Species where no ortholog for RNF207 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RNF207 Gene

ENSEMBL:
Gene Tree for RNF207 (if available)
TreeFam:
Gene Tree for RNF207 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF207: view image

Paralogs for RNF207 Gene

No data available for Paralogs for RNF207 Gene

Variants for RNF207 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RNF207 Gene

RN207_HUMAN-Q6ZRF8
Genetic variation in RNF207 may influence the duration of QT interval, a mesure of cardiac repolarization that depends on multiple environmental and genetic contributors. Prolonged or shortened QT intervals predisposes to ventricular arrhythmias and are a risk factor for sudden cardiac death.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF207 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs372482893 Likely Benign: not provided 6,209,164(+) G/A
NM_207396.3(RNF207):c.519G>A (p.Leu173=)
SYNONYMOUS
rs552508881 Likely Pathogenic: Long QT syndrome 6,211,119(+) G/A
NM_207396.3(RNF207):c.1109+1G>A
SPLICE_DONOR
rs12073329 - p.Ala421Thr
rs55823245 - p.Arg539Cys
rs709209 - p.Asn573Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RNF207 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RNF207 Gene

Variant ID Type Subtype PubMed ID
dgv8n67 CNV gain 20364138
nsv1126172 CNV deletion 24896259
nsv508825 CNV insertion 20534489
nsv545236 CNV loss 21841781
nsv831425 CNV loss 17160897
nsv954005 CNV deletion 24416366

Variation tolerance for RNF207 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.75; 86.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF207 Gene

Human Gene Mutation Database (HGMD)
RNF207
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF207

SNP Genotyping and Copy Number Assays for research

Disorders for RNF207 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RNF207 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF207

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RNF207: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF207 Gene

Publications for RNF207 Gene

  1. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. (PMID: 19305409) Pfeufer A … Chakravarti A (Nature genetics 2009) 3 4 41
  2. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PMID: 19305408) Newton-Cheh C … Stricker BH (Nature genetics 2009) 3 4 41
  3. RING finger protein RNF207, a novel regulator of cardiac excitation. (PMID: 25281747) Roder K … Koren G (The Journal of biological chemistry 2014) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope. (PMID: 30542207) Fan LL … Xiang R (Journal of human genetics 2019) 3

Products for RNF207 Gene

Sources for RNF207 Gene