KCNA7

potassium voltage-gated channel subfamily A member 7, the group of Potassium voltage-gated channels

Basic information

Region (hg38): 19:49067396-49072699

Links

ENSG00000104848 ∙ NCBI:3743 ∙ OMIM:176268 ∙ HGNC:6226 ∙ Uniprot:Q96RP8 ∙ 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 KCNA7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNA7 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			33			33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	0	0

Variants in KCNA7

This is a list of pathogenic ClinVar variants found in the KCNA7 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49070104-G-A		not specified	Uncertain significance (Jul 19, 2023)
19-49070226-C-T		not specified	Uncertain significance (May 03, 2023)
19-49070227-G-A		not specified	Uncertain significance (Jan 10, 2023)
19-49070257-T-C		not specified	Uncertain significance (Dec 28, 2023)
19-49070292-G-A		not specified	Uncertain significance (Nov 07, 2023)
19-49070325-C-T		not specified	Uncertain significance (Apr 24, 2024)
19-49070397-G-A		not specified	Uncertain significance (Oct 17, 2023)
19-49070425-G-A		not specified	Uncertain significance (Jun 22, 2021)
19-49070449-C-T		not specified	Uncertain significance (Jun 06, 2023)
19-49070470-C-A		not specified	Uncertain significance (Jun 24, 2022)
19-49070574-C-T		not specified	Uncertain significance (Sep 15, 2021)
19-49070583-C-T		not specified	Uncertain significance (Jun 30, 2022)
19-49070662-C-A		not specified	Uncertain significance (Jul 15, 2021)
19-49070713-C-A		not specified	Uncertain significance (Apr 18, 2023)
19-49070713-C-T		not specified	Uncertain significance (Mar 03, 2022)
19-49070740-G-C		not specified	Uncertain significance (Nov 07, 2023)
19-49070794-T-A		not specified	Uncertain significance (Feb 22, 2023)
19-49070803-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-49070872-C-T		not specified	Uncertain significance (Mar 15, 2024)
19-49072032-G-T		not specified	Uncertain significance (May 08, 2024)
19-49072062-G-C		not specified	Uncertain significance (Jun 10, 2022)
19-49072089-G-C		not specified	Uncertain significance (Dec 12, 2022)
19-49072165-C-T		not specified	Uncertain significance (Apr 08, 2024)
19-49072189-A-C		not specified	Uncertain significance (Aug 08, 2022)
19-49072204-G-T		not specified	Uncertain significance (Jun 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNA7	protein_coding	protein_coding	ENST00000221444	2	5524

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.142	0.841	125701	0	38	125739	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.415	262	282	0.930	0.0000166	2874
Missense in Polyphen		120	139.33	0.86126		1406
Synonymous	-0.228	131	128	1.03	0.00000770	1035
Loss of Function	2.06	3	10.0	0.299	6.00e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000453	0.000453
Ashkenazi Jewish	0.000106	0.0000992
East Asian	0.000167	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000153	0.000149
Middle Eastern	0.000167	0.000163
South Asian	0.0000980	0.0000980
Other	0.000181	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity). {ECO:0000250}.
• Pathway: Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Intolerance Scores

• loftool: 0.142
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.77

Haploinsufficiency Scores

• pHI: 0.116
• hipred: N
• hipred_score: 0.294
• ghis: 0.551

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.149

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Kcna7

Gene ontology

• Biological process: regulation of ion transmembrane transport;protein homooligomerization;potassium ion transmembrane transport
• 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