KCNJ12

potassium inwardly rectifying channel subfamily J member 12, the group of Potassium inwardly rectifying channel subfamily J

Basic information

Region (hg38): 17:21376357-21419870

Previous symbols: [ "KCNJN1" ]

Links

ENSG00000184185 ∙ NCBI:3768 ∙ OMIM:602323 ∙ HGNC:6258 ∙ Uniprot:Q14500 ∙ 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 KCNJ12 gene.

• not_specified (50 variants)
• KCNJ12-related_disorder (24 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNJ12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021012.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	11	4	16
missense			53	1	8	62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	12	12

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNJ12	protein_coding	protein_coding	ENST00000583088	1	43671

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0542	0.872	125484	0	264	125748	0.00105

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.16	175	224	0.781	0.0000158	2494
Missense in Polyphen		74	92.981	0.79586		1092
Synonymous	0.400	84	88.8	0.946	0.00000695	707
Loss of Function	1.49	3	7.35	0.408	3.29e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0150	0.0146
Ashkenazi Jewish	0.00	0.00
East Asian	0.000600	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.0000529	0.0000527
Middle Eastern	0.000600	0.000598
South Asian	0.00	0.00
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inward rectifying potassium channel that is activated by phosphatidylinositol 4,5-bisphosphate and that probably participates in controlling the resting membrane potential in electrically excitable cells. Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. 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. {ECO:0000269|PubMed:12417321, ECO:0000269|PubMed:20921230, ECO:0000269|PubMed:7859381, ECO:0000269|PubMed:8647284}.
• Pathway: Oxytocin signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Neuronal System;Phase 4 - resting membrane potential;Cardiac conduction;Muscle contraction;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;Classical Kir channels;G protein gated Potassium channels;Inwardly rectifying K+ channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.177

Intolerance Scores

• loftool: 0.0599
• rvis_EVS: 1.56
• rvis_percentile_EVS: 95.67

Haploinsufficiency Scores

• pHI: 0.203
• hipred: Y
• hipred_score: 0.662
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.511

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kcnj12

Gene ontology

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