RNF207 ring finger protein 207 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF207provided by HGNC
Official Full Name: ring finger protein 207provided by HGNC
Primary source: HGNC:HGNC:32947
See related: Ensembl:ENSG00000158286 MIM:616923; AllianceGenome:HGNC:32947
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C1orf188
Summary: Enables Hsp70 protein binding activity and transmembrane transporter binding activity. Involved in positive regulation of gene expression. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in heart (RPKM 5.9), prostate (RPKM 3.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.31

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (6206119..6221299)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (5731763..5746943)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (6266179..6281359)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disruption of protein quality control of the human ether-a-go-go related gene K(+) channel results in profound long QT syndrome.
Title: Disruption of protein quality control of the human ether-à-go-go related gene K(+) channel results in profound long QT syndrome.
Nonsense mutation of RNF207 gene is associated with Long QT syndrome.
Title: Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.
Data indicate that plasma E3 Ligase Rnf207 (ring finger protein 207) level in acute myocardial infarction patients increased significantly compared with that in healthy people.
Title: Circulating E3 ligases are novel and sensitive biomarkers for diagnosis of acute myocardial infarction.
RNF207 is an important regulator of action potential duration, likely via effects on HERG trafficking and localization in a heat shock protein-dependent manner.
Title: RING finger protein RNF207, a novel regulator of cardiac excitation.
Genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common variants at ten loci influence QT interval duration in the QTGEN Study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants at ten loci influence QT interval duration in the QTGEN Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

RH101937 (e-PCR)
- UniSTS:96272

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-74151 (e-PCR)
- UniSTS:72248

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

NoName (e-PCR)
- UniSTS:488155

SHGC-74149 (e-PCR)
- UniSTS:35297

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp70 protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of membrane repolarization during cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of regulation of cardiac muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of heart looping	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart looping	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: RING finger protein 207

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_207396.3 → NP_997279.2 RING finger protein 207

See identical proteins and their annotated locations for NP_997279.2

Status: VALIDATED

Source sequence(s)

AK127700, AL031847, BQ045220, CD673733, DA190055, DB290694, DB636433

Consensus CDS

CCDS59.2

UniProtKB/Swiss-Prot

A2VCM8, B4DFR6, Q5TGS6, Q6ZRF8, Q6ZS63, Q96MP2

Related

ENSP00000367173.4, ENST00000377939.5

Conserved Domains (3) summary

smart00184
Location:25 → 63

RING; Ring finger

pfam00643
Location:93 → 145

zf-B_box; B-box zinc finger

cl23765
Location:202 → 321

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

6206119..6221299

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420010.1 → XP_047275966.1 RING finger protein 207 isoform X1
XM_011541439.4 → XP_011539741.2 RING finger protein 207 isoform X2
XM_047420023.1 → XP_047275979.1 RING finger protein 207 isoform X4
XM_047420029.1 → XP_047275985.1 RING finger protein 207 isoform X5
XM_047420021.1 → XP_047275977.1 RING finger protein 207 isoform X3

RNA

XR_002956484.2 RNA Sequence
XR_002956486.2 RNA Sequence
XR_001737161.3 RNA Sequence
XR_001737159.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

5731763..5746943

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336502.1 → XP_054192477.1 RING finger protein 207 isoform X1
XM_054336503.1 → XP_054192478.1 RING finger protein 207 isoform X2
XM_054336505.1 → XP_054192480.1 RING finger protein 207 isoform X4
XM_054336506.1 → XP_054192481.1 RING finger protein 207 isoform X5
XM_054336504.1 → XP_054192479.1 RING finger protein 207 isoform X3

RNA

XR_008486040.1 RNA Sequence
XR_008486042.1 RNA Sequence
XR_008486041.1 RNA Sequence
XR_008486039.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173795.2: Suppressed sequence

Description

NM_173795.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.