KCNJ14

potassium inwardly rectifying channel subfamily J member 14, the group of Potassium inwardly rectifying channel subfamily J

Basic information

Region (hg38): 19:48455573-48466980

Links

ENSG00000182324

∙ NCBI:3770 ∙ OMIM:603953 ∙ HGNC:6260 ∙ Uniprot:Q9UNX9 ∙ 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 KCNJ14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNJ14 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNJ14	protein_coding	protein_coding	ENST00000391884	2	10602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000250	0.310	125695	0	33	125728	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.879	247	289	0.854	0.0000213	2746
Missense in Polyphen		136	151.63	0.8969		1393
Synonymous	1.21	114	132	0.866	0.0000105	937
Loss of Function	0.259	9	9.88	0.911	4.25e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000446	0.000446
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000716	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.000263	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ14 gives rise to low-conductance channels with a low affinity to the channel blockers Barium and Cesium (By similarity). {ECO:0000250}.;
Pathway: Oxytocin signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Neuronal System;Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction;Classical Kir channels;Inwardly rectifying K+ channels;Potassium Channels (Consensus)

Recessive Scores

pRec: 0.151

Intolerance Scores

loftool: 0.0839
rvis_EVS: -0.07
rvis_percentile_EVS: 48.54

Haploinsufficiency Scores

pHI: 0.261
hipred: N
hipred_score: 0.375
ghis: 0.494

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.263

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Kcnj14
Phenotype

Gene ontology

Biological process: regulation of ion transmembrane transport;potassium ion import across plasma membrane
Cellular component: plasma membrane;voltage-gated potassium channel complex;dendrite;neuronal cell body
Molecular function: inward rectifier potassium channel activity