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Aliases for RNF207 Gene

Aliases for RNF207 Gene

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

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. Gene Ontology (GO) annotations related to this gene include ion channel binding and Hsp70 protein binding.

UniProtKB/Swiss-Prot 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.

Additional gene information for RNF207 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF207 Gene

Genomics for RNF207 Gene

GeneHancer (GH) Regulatory Elements for RNF207 Gene

Promoters and enhancers for RNF207 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I006204 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 568.5 +0.2 243 2.9 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B RNF207 LOC102724450 THAP3 PHF13 ZBTB48 RPL22 NOL9
GH01I006197 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 -6.1 -6131 3.2 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 GC01M006194 RPL22 PHF13 RNF207 NOL9 ZBTB48 THAP3
GH01I006259 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 +56.5 56523 4.6 PKNOX1 ATF1 ARID4B SIN3A BRCA1 GLIS2 KLF7 ATF7 ZNF263 SP3 GPR153 GC01P006262 ICMT LINC00337 RPL22 RNF207 LOC102724450 CHD5 NOL9 THAP3
GH01I006412 Enhancer 1.1 Ensembl ENCODE 19.5 +209.5 209523 4.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A ZNF121 ZNF143 ATF7 RUNX3 ESPN RNF207 ICMT LINC00337 HES3 PLEKHG5 LOC102724450 RPL22 CAMTA1 CHD5
GH01I006422 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 10.7 +218.8 218839 3.2 ATF1 SIN3A ZNF2 GLIS2 CBX5 ZNF213 ZNF143 SP3 REST MIER2 ESPN HES2 PHF13 NOL9 LOC102724450 RNF207 RPL22 THAP3 ACOT7 GC01M006398
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF207 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF207 gene promoter:

Genomic Locations for RNF207 Gene

Genomic Locations for RNF207 Gene
chr1:6,205,475-6,221,299
(GRCh38/hg38)
Size:
15,825 bases
Orientation:
Plus strand
chr1:6,265,535-6,281,359
(GRCh37/hg19)

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

ENSEMBL proteins:
REFSEQ proteins:

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

Suggested Antigen Peptide Sequences for RNF207 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RNF207: view

No data available for 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 Model Products

  • Taconic Biosciences Mouse Models for RNF207

CRISPR Products

Inhibitory RNA Products

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

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:0005622 intracellular IEA --
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

SuperPathways for RNF207 Gene

No Data Available

Interacting Proteins for RNF207 Gene

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

Unigene Clusters for RNF207 Gene

Ring finger protein 207:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
RNF207

Expression for RNF207 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for RNF207 Gene



Protein tissue co-expression partners for RNF207 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF207 Gene:

RNF207

SOURCE GeneReport for Unigene cluster for RNF207 Gene:

Hs.716549

Evidence on tissue expression from TISSUES for RNF207 Gene

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

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 33 34
  • 99.16 (n)
cow
(Bos Taurus)
Mammalia RNF207 33 34
  • 87.11 (n)
dog
(Canis familiaris)
Mammalia RNF207 33 34
  • 86.34 (n)
mouse
(Mus musculus)
Mammalia Rnf207 33 16 34
  • 83.36 (n)
rat
(Rattus norvegicus)
Mammalia Rnf207 33
  • 82.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF207 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF207 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF207 33 34
  • 72.04 (n)
lizard
(Anolis carolinensis)
Reptilia RNF207 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf207 33
  • 64.83 (n)
zebrafish
(Danio rerio)
Actinopterygii rnf207b 33 34
  • 64.47 (n)
RNF207 (2 of 2) 34
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F47G9.4 33 34
  • 41.23 (n)
Species where no ortholog for RNF207 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for RNF207 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000100757 -- 6,206,244(+) G/T 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000165198 -- 6,214,404(+) T/A intron_variant
rs1000499898 -- 6,207,509(+) C/G coding_sequence_variant, intron_variant, missense_variant
rs1000556011 -- 6,206,459(+) G/A intron_variant
rs1000570535 -- 6,208,874(+) C/T intron_variant

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

Disorders for RNF207 Gene

Additional Disease Information for RNF207

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RNF207 Gene.

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

Publications for RNF207 Gene

  1. 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 44 58
  2. 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 44 58
  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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction. (PMID: 25599194) Han QY … Li HH (Clinical science (London, England : 1979) 2015) 3 58

Products for RNF207 Gene

Sources for RNF207 Gene

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