KCNRG

protein-coding

potassium channel regulator

Gene summary

This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

MANE transcript

NM_173605.2

Inheritance

—

ClinVar variants

U:38B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.9

Max pathogenic AF

—

Genomic locus

chr13:50,015,254-50,020,922

External References & Databases

Ensembl (ENSG00000198553)

Transcript & Mutation Effects

hg38 • Region Span ~5.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KCNRG variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 39

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173605.2. 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						0
missense			38 clinvar	1 clinvar		39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	1	0	39

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173605.2	RefSeq	NP_775876.1	2	MANE Select
ENST00000312942.2	Ensembl	ENSP00000324191.1	2	MANE Select
NM_199464.3	RefSeq	NP_955751.1	3	Standard
ENST00000360473.8	Ensembl	ENSP00000353661.4	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein homooligomerization
negative regulation of delayed rectifier potassium channel activity

Molecular Function

protein binding
identical protein binding

Cellular Component

endoplasmic reticulum

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000312942
Coding exons: 2
Length: 5669
Individuals with no LoFs: 125263
Homozygous LoFs: 0
Heterozygous LoFs: 483
Defined: 125746
p: 0.00192

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.206	139	146	0.952	0.00000745	1783
Missense (PolyPhen)		20	26.521	0.75411		380
Synonymous	1.00	45	54.4	0.828	0.00000277	544
Loss of Function	0.271	7	7.82	0.895	4.14e-7	101

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0019	0.0019	notable
Latino/Admixed American	0.0032	0.0032	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.0012	0.0012	notable
European (Non-Finnish)	0.0024	0.0023	notable
South Asian	0.0012	0.0012	notable
Other	0.0020	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Inhibits potassium fluxes in cells. May regulate Kv1 family channel proteins by retaining a fraction of channels in endomembranes. {ECO:0000269|PubMed:12650944, ECO:0000269|PubMed:19968958}.;

Recessive Scores

pRec: 0.0945

Intolerance Scores

LoFtool: 0.940
RVIS EVS: 0.35
RVIS percentile EVS: 74.18

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.706

Gene Damage Prediction

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