GeneBe

KCNA10

potassium voltage-gated channel subfamily A member 10, the group of Potassium voltage-gated channels

Basic information

Region (hg38): 1:110517217-110519175

Links

ENSG00000143105 ∙ NCBI:3744 ∙ OMIM:602420 ∙ HGNC:6219 ∙ Uniprot:Q16322 ∙ 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 KCNA10 gene.

  • not_specified (77 variants)
  • not_provided (4 variants)
  • Congenital_long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNA10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005549.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
76
clinvar
2
clinvar
2
clinvar
 80
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 76 2 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KCNA10protein_codingprotein_codingENST00000369771 11959
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0008380.80000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.8223272881.140.00001693387
Missense in Polyphen142133.051.06731555
Synonymous-0.6491191101.080.000006021032
Loss of Function1.0969.660.6214.17e-7131

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Mediates 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. The channel activity is up-regulated by cAMP. {ECO:0000269|PubMed:10836990}.;
Pathway
Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Recessive Scores

pRec
0.166

Intolerance Scores

loftool
0.168
rvis_EVS
-0.35
rvis_percentile_EVS
29.54

Haploinsufficiency Scores

pHI
0.192
hipred
Y
hipred_score
0.582
ghis
0.446

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.212

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kcna10
Phenotype
hearing/vestibular/ear phenotype;

Gene ontology

Biological process
potassium ion transport;regulation of ion transmembrane transport;protein homooligomerization;potassium ion transmembrane transport;potassium ion export across plasma membrane
Cellular component
plasma membrane;voltage-gated potassium channel complex;integral component of membrane
Molecular function
intracellular cyclic nucleotide activated cation channel activity;voltage-gated potassium channel activity;delayed rectifier potassium channel activity;outward rectifier potassium channel activity