RNF207

protein-coding

ring finger protein 207, the group of Ring finger proteins

Gene 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, Jul 2025]

Previous symbols:

C1orf188

MANE transcript

NM_207396.3

Inheritance

ClinVar variants

P:1U:131B:9

Top phenotype

Long QT syndrome

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr1:6,205,475-6,221,299

External References & Databases

Ensembl (ENSG00000158286)

Transcript & Mutation Effects

hg38 • Region Span ~15.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

long QT syndromeLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0002442

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RNF207 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 127

not providedTotal: 3

Long QT syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207396.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			124 clinvar	8 clinvar		132
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)		1 clinvar	3 clinvar			4
Total	0	1	131	9	0	141

Highest pathogenic variant AF is 0.0000075887983

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 63 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207396.3	RefSeq	NP_997279.2	17	MANE Select
ENST00000377939.5	Ensembl	ENSP00000367173.4	17	MANE Select
ENST00000882098.1	Ensembl	ENSP00000552157.1	17	Standard
ENST00000882099.1	Ensembl	ENSP00000552158.1	17	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
rnf207b	Danio rerio	Structure: ventricular myocardium Quality: increased duration abnormal

Gene / Model

Organism

Observed Phenotype

rnf207b

Danio rerio

Structure: ventricular myocardium

Quality: increased duration

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of gene expression
regulation of cardiac muscle contraction
cell-cell signaling involved in cardiac conduction
regulation of heart looping
positive regulation of delayed rectifier potassium channel activity

Molecular Function

protein binding
zinc ion binding
Hsp70 protein binding
ion channel binding
chaperone binding

Cellular Component

perinuclear region of cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377939
Coding exons: 17
Length: 15825
Individuals with no LoFs: 125643
Homozygous LoFs: 1
Heterozygous LoFs: 104
Defined: 125748
p: 0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.454	353	378	0.934	0.0000226	4058
Missense (PolyPhen)		52	71.026	0.73212		872
Synonymous	0.904	156	171	0.912	0.0000116	1251
Loss of Function	1.77	23	34.2	0.673	0.00000180	368

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00039	0.00037	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.000056	0.000054	rare
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.00037	0.00036	rare
South Asian	0.0014	0.0014	notable
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: 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. {ECO:0000269|PubMed:25281747}.;

Intolerance Scores

LoFtool: 0.769
RVIS EVS: 0.91
RVIS percentile EVS: 89.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.217

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium