KCNJ6
potassium inwardly rectifying channel subfamily J member 6, the group of Potassium inwardly rectifying channel subfamily J
Basic information
Region (hg38): 21:37607373-38121345
Previous symbols: [ "KCNJ7" ]
Links
Phenotypes
GenCC
Source:
- Keppen-Lubinsky syndrome (Strong), mode of inheritance: AD
- Keppen-Lubinsky syndrome (Moderate), mode of inheritance: AD
- Keppen-Lubinsky syndrome (Strong), mode of inheritance: AD
- Keppen-Lubinsky syndrome (Supportive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Keppen-Lubinsky syndrome | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Craniofacial; Endocrine; Neurologic | 12567423; 19610118; 25620207 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (87 variants)
- Inborn_genetic_diseases (22 variants)
- Keppen-Lubinsky_syndrome (10 variants)
- not_specified (7 variants)
- KCNJ6-related_disorder (3 variants)
- See_cases (2 variants)
- Schizophrenia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNJ6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002240.5. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 32 | 35 | ||||
| missense | 58 | 62 | ||||
| nonsense | 6 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 4 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 2 | 69 | 34 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KCNJ6 | protein_coding | protein_coding | ENST00000609713 | 3 | 309072 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.541 | 0.459 | 124788 | 0 | 12 | 124800 | 0.0000481 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.71 | 78 | 240 | 0.325 | 0.0000135 | 2788 |
| Missense in Polyphen | 15 | 116.99 | 0.12821 | 1349 | ||
| Synonymous | 1.11 | 86 | 100 | 0.858 | 0.00000632 | 832 |
| Loss of Function | 2.90 | 3 | 15.2 | 0.197 | 8.05e-7 | 172 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000659 | 0.0000645 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000939 | 0.0000928 |
| European (Non-Finnish) | 0.0000534 | 0.0000530 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.000334 | 0.000330 |
dbNSFP
Source:
- Function
- FUNCTION: This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. 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
- Oxytocin signaling pathway - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);GABAergic synapse - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Splicing factor NOVA regulated synaptic proteins;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
(Consensus)
Recessive Scores
- pRec
- 0.216
Intolerance Scores
- loftool
- 0.0386
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 28.63
Haploinsufficiency Scores
- pHI
- 0.377
- hipred
- Y
- hipred_score
- 0.725
- ghis
- 0.466
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.876
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kcnj6
- Phenotype
- reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype;
Gene ontology
- Biological process
- potassium ion transport;regulation of ion transmembrane transport;potassium ion import across plasma membrane
- Cellular component
- Golgi apparatus;plasma membrane;voltage-gated potassium channel complex
- Molecular function
- inward rectifier potassium channel activity;protein binding;G-protein activated inward rectifier potassium channel activity