KCNG1

potassium voltage-gated channel modifier subfamily G member 1, the group of Potassium voltage-gated channels

Basic information

Region (hg38): 20:51003656-51023107

Previous symbols: [ "KCNG" ]

Links

ENSG00000026559 ∙ NCBI:3755 ∙ OMIM:603788 ∙ HGNC:6248 ∙ Uniprot:Q9UIX4 ∙ 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 KCNG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNG1 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in KCNG1

This is a list of pathogenic ClinVar variants found in the KCNG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-51004052-C-A		not specified	Uncertain significance (Jan 23, 2023)
20-51004078-C-G		not specified	Uncertain significance (Jan 05, 2022)
20-51004106-A-T		not specified	Uncertain significance (Aug 30, 2022)
20-51004275-G-C		not specified	Uncertain significance (Jan 12, 2024)
20-51004365-G-A		not specified	Uncertain significance (Dec 31, 2024)
20-51004371-C-T		not specified	Uncertain significance (Aug 30, 2021)
20-51004455-C-T		not specified	Uncertain significance (Feb 20, 2025)
20-51004593-C-T		not specified	Likely benign (Apr 07, 2023)
20-51004686-T-A		not specified	Uncertain significance (Sep 21, 2023)
20-51004705-G-T		not specified	Uncertain significance (Feb 02, 2024)
20-51004742-G-C		not specified	Uncertain significance (Feb 01, 2025)
20-51004779-C-T		not specified	Uncertain significance (Aug 04, 2021)
20-51009717-G-T		not specified	Uncertain significance (Feb 19, 2025)
20-51009725-C-T		not specified	Uncertain significance (Apr 05, 2023)
20-51009752-C-A		not specified	Uncertain significance (Sep 08, 2024)
20-51009786-C-T		not specified	Uncertain significance (Jul 05, 2023)
20-51009791-T-C		not specified	Uncertain significance (Jul 05, 2023)
20-51009813-A-G		not specified	Uncertain significance (Nov 22, 2021)
20-51010125-T-G		not specified	Uncertain significance (Jan 08, 2024)
20-51010170-G-T		not specified	Uncertain significance (Jun 11, 2024)
20-51010181-C-T		not specified	Uncertain significance (Jun 10, 2024)
20-51010196-G-A		not specified	Uncertain significance (Nov 24, 2024)
20-51010202-A-C		not specified	Uncertain significance (Oct 03, 2022)
20-51010203-G-C		not specified	Uncertain significance (Oct 03, 2022)
20-51010250-G-C		not specified	Uncertain significance (Jun 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNG1	protein_coding	protein_coding	ENST00000371571	2	19474

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0262	0.963	125737	0	8	125745	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.28	141	374	0.377	0.0000290	3276
Missense in Polyphen		28	170.63	0.16409		1551
Synonymous	1.72	154	184	0.839	0.0000156	1087
Loss of Function	2.22	5	14.0	0.358	6.85e-7	142

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000126	0.000123
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000111	0.000109
Finnish	0.0000522	0.0000462
European (Non-Finnish)	0.00000970	0.00000879
Middle Eastern	0.000111	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potassium channel subunit that does not form functional channels by itself. Can form functional heterotetrameric channels with KCNB1; modulates the delayed rectifier voltage-gated potassium channel activation and deactivation rates of KCNB1 (PubMed:19074135). {ECO:0000269|PubMed:19074135}.
• Pathway: Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.163

Intolerance Scores

• loftool: 0.132
• rvis_EVS: -0.63
• rvis_percentile_EVS: 17.03

Haploinsufficiency Scores

• pHI: 0.118
• hipred: Y
• hipred_score: 0.528
• ghis: 0.563

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.323

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcng1

Gene ontology

• Biological process: potassium ion transport;protein homooligomerization;potassium ion transmembrane transport;regulation of delayed rectifier potassium channel activity
• Cellular component: plasma membrane;voltage-gated potassium channel complex;integral component of membrane
• Molecular function: voltage-gated potassium channel activity;delayed rectifier potassium channel activity;potassium channel activity