KCNJ15

potassium inwardly rectifying channel subfamily J member 15, the group of Potassium inwardly rectifying channel subfamily J

Basic information

Region (hg38): 21:38155548-38307357

Links

ENSG00000157551 ∙ NCBI:3772 ∙ OMIM:602106 ∙ HGNC:6261 ∙ Uniprot:Q99712 ∙ 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 KCNJ15 gene.

• Inborn genetic diseases (11 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNJ15 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			11		1	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	1

Variants in KCNJ15

This is a list of pathogenic ClinVar variants found in the KCNJ15 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-38299265-G-T		not specified	Uncertain significance (Dec 13, 2023)
21-38299269-C-T		not specified	Uncertain significance (Jun 22, 2021)
21-38299271-A-T		not specified	Uncertain significance (Sep 13, 2023)
21-38299277-A-G			Benign (Jun 08, 2017)
21-38299280-G-A		not specified	Likely benign (Jul 14, 2021)
21-38299290-G-A		not specified	Uncertain significance (May 31, 2022)
21-38299334-A-T		not specified	Uncertain significance (Aug 10, 2021)
21-38299383-A-G		not specified	Uncertain significance (Aug 04, 2023)
21-38299572-A-G		not specified	Uncertain significance (Dec 20, 2023)
21-38299682-C-T		not specified	Uncertain significance (Feb 16, 2023)
21-38299782-G-A		not specified	Uncertain significance (Dec 13, 2023)
21-38299862-A-G		not specified	Uncertain significance (Feb 23, 2023)
21-38299877-C-T		not specified	Uncertain significance (Nov 28, 2023)
21-38299921-C-G		not specified	Uncertain significance (Nov 29, 2023)
21-38299940-C-T		not specified	Uncertain significance (Apr 07, 2022)
21-38300066-C-A		not specified	Uncertain significance (Jun 13, 2023)
21-38300210-C-G		not specified	Uncertain significance (Dec 20, 2023)
21-38300252-G-A		not specified	Uncertain significance (Feb 14, 2024)
21-38300271-C-A		not specified	Uncertain significance (Dec 21, 2022)
21-38300288-T-C		not specified	Uncertain significance (Jul 20, 2021)
21-38300290-T-G		not specified	Uncertain significance (Dec 21, 2023)
21-38300297-T-A		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNJ15	protein_coding	protein_coding	ENST00000328656	1	150152

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.113	0.862	125731	0	14	125745	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	164	212	0.772	0.0000115	2471
Missense in Polyphen		59	99.337	0.59394		1137
Synonymous	-0.102	90	88.8	1.01	0.00000518	752
Loss of Function	1.92	3	9.35	0.321	4.80e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

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.
• Pathway: Gastric acid secretion - Homo sapiens (human);Neuronal System;Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits;Activation of GABAB receptors;GABA B receptor activation;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;Activation of G protein gated Potassium channels;G protein gated Potassium channels;Inwardly rectifying K+ channels;Potassium Channels;Alpha9 beta1 integrin signaling events (Consensus)

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.0460
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.74

Haploinsufficiency Scores

• pHI: 0.169
• hipred: Y
• hipred_score: 0.507
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.809

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnj15
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: potassium ion transport;regulation of ion transmembrane transport;potassium ion import across plasma membrane
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: inward rectifier potassium channel activity;protein binding;G-protein activated inward rectifier potassium channel activity