KCNG3

potassium voltage-gated channel modifier subfamily G member 3, the group of Potassium voltage-gated channels

Basic information

Region (hg38): 2:42442016-42493982

Links

ENSG00000171126 ∙ NCBI:170850 ∙ OMIM:606767 ∙ HGNC:18306 ∙ Uniprot:Q8TAE7 ∙ 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 KCNG3 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNG3 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in KCNG3

This is a list of pathogenic ClinVar variants found in the KCNG3 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-42444134-T-C		not specified	Uncertain significance (Apr 04, 2023)
2-42444493-T-C		not specified	Uncertain significance (Nov 04, 2023)
2-42444548-T-C		not specified	Uncertain significance (Jun 22, 2021)
2-42492870-C-T		not specified	Uncertain significance (Aug 04, 2021)
2-42493019-G-C		not specified	Uncertain significance (Dec 22, 2023)
2-42493057-G-A		not specified	Uncertain significance (Jan 30, 2024)
2-42493065-T-G		not specified	Uncertain significance (Jul 09, 2021)
2-42493085-C-G		not specified	Uncertain significance (Sep 20, 2023)
2-42493140-G-A		not specified	Uncertain significance (Aug 13, 2021)
2-42493330-G-A		not specified	Uncertain significance (Oct 31, 2023)
2-42493333-C-G		not specified	Uncertain significance (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNG3	protein_coding	protein_coding	ENST00000306078	2	52081

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.272	0.724	125743	0	5	125748	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.32	138	239	0.577	0.0000120	2800
Missense in Polyphen		45	119.32	0.37715		1429
Synonymous	-2.88	135	98.7	1.37	0.00000506	896
Loss of Function	2.43	3	12.2	0.247	6.04e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000361	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potassium channel subunit that does not form functional channels by itself (PubMed:11852086). Can form functional heterotetrameric channels with KCNB1; this promotes a reduction in the rate of activation and inactivation of the delayed rectifier voltage-gated potassium channel KCNB1 (PubMed:11852086, PubMed:19074135). {ECO:0000269|PubMed:11852086, ECO:0000269|PubMed:19074135}.
• Pathway: Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.307
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.224
• hipred: Y
• hipred_score: 0.714
• ghis: 0.477

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.806

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcng3

Gene ontology

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