GeneBe

KCNC4

potassium voltage-gated channel subfamily C member 4, the group of Potassium voltage-gated channels

Basic information

Region (hg38): 1:110210314-110283100

Previous symbols: [ "C1orf30" ]

Links

ENSG00000116396 ∙ NCBI:3749 ∙ OMIM:176265 ∙ HGNC:6236 ∙ Uniprot:Q03721 ∙ 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 KCNC4 gene.

  • not_specified (86 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNC4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039574.3. 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
3
clinvar
 3
missense
75
clinvar
6
clinvar
 81
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 75 9 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KCNC4protein_codingprotein_codingENST00000369787 471758
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.004450.9891257290161257450.0000636
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.063024210.7170.00002694082
Missense in Polyphen86186.950.460011906
Synonymous-0.3651931871.030.00001211388
Loss of Function2.40718.00.3909.20e-7190

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.00005510.0000544
Finnish0.00004630.0000462
European (Non-Finnish)0.00009900.0000967
Middle Eastern0.00005510.0000544
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: This protein 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.;
Pathway
Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Recessive Scores

pRec
0.152

Intolerance Scores

loftool
0.0533
rvis_EVS
-0.42
rvis_percentile_EVS
25.79

Haploinsufficiency Scores

pHI
0.590
hipred
N
hipred_score
0.417
ghis
0.567

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.326

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kcnc4
Phenotype

Gene ontology

Biological process
potassium ion transport;chemical synaptic transmission;regulation of ion transmembrane transport;regulation of neurotransmitter secretion;protein homooligomerization;potassium ion transmembrane transport
Cellular component
plasma membrane;voltage-gated potassium channel complex;integral component of membrane;axon;neuromuscular junction;dendrite membrane;neuronal cell body membrane;neuronal cell body;axon terminus
Molecular function
voltage-gated potassium channel activity;delayed rectifier potassium channel activity;potassium channel activity