KCNRG

potassium channel regulator

Basic information

Region (hg38): 13:50015254-50020922

Links

ENSG00000198553 ∙ NCBI:283518 ∙ OMIM:607947 ∙ HGNC:18893 ∙ Uniprot:Q8N5I3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCNRG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNRG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in KCNRG

This is a list of pathogenic ClinVar variants found in the KCNRG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
13-50015518-T-G		not specified	Uncertain significance (Jan 03, 2024)
13-50015537-T-C		not specified	Uncertain significance (Aug 17, 2022)
13-50015581-C-T		not specified	Uncertain significance (Feb 27, 2024)
13-50015606-G-A		not specified	Uncertain significance (Nov 02, 2021)
13-50015624-T-C		not specified	Uncertain significance (Sep 28, 2022)
13-50015701-C-G		not specified	Uncertain significance (Jul 14, 2022)
13-50015726-A-G		not specified	Uncertain significance (Jun 29, 2022)
13-50015767-C-T		not specified	Uncertain significance (Nov 02, 2023)
13-50015822-T-G		not specified	Uncertain significance (Mar 18, 2024)
13-50015843-G-A		not specified	Uncertain significance (May 26, 2024)
13-50015908-A-G		not specified	Uncertain significance (Nov 09, 2021)
13-50015974-A-T		not specified	Uncertain significance (Feb 28, 2023)
13-50015981-T-C		not specified	Uncertain significance (Dec 21, 2023)
13-50020226-A-G		not specified	Uncertain significance (Feb 26, 2024)
13-50020240-G-A		not specified	Uncertain significance (Aug 02, 2021)
13-50020275-C-G		not specified	Uncertain significance (Apr 07, 2022)
13-50020292-A-C		not specified	Uncertain significance (Apr 10, 2023)
13-50020297-A-C		not specified	Uncertain significance (Dec 15, 2022)
13-50020384-T-A		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNRG	protein_coding	protein_coding	ENST00000312942	2	5669

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000413	0.409	125263	0	483	125746	0.00192

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.206	139	146	0.952	0.00000745	1783
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00515	0.00515
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00115	0.00116
European (Non-Finnish)	0.00237	0.00231
Middle Eastern	0.000109	0.000109
South Asian	0.00121	0.00121
Other	0.00196	0.00196

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.706

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnrg

Gene ontology

• Biological process: protein homooligomerization;negative regulation of delayed rectifier potassium channel activity
• Cellular component: endoplasmic reticulum
• Molecular function: protein binding;identical protein binding