KCNJ9
potassium inwardly rectifying channel subfamily J member 9, the group of Potassium inwardly rectifying channel subfamily J
Basic information
Region (hg38): 1:160081537-160090563
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNJ9 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 | 12 | 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 | 12 | 0 | 0 |
Variants in KCNJ9
This is a list of pathogenic ClinVar variants found in the KCNJ9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-160084059-C-T | not specified | Uncertain significance (Jan 31, 2024) | ||
| 1-160084074-C-A | not specified | Uncertain significance (Jun 11, 2024) | ||
| 1-160084088-G-A | not specified | Uncertain significance (Dec 13, 2023) | ||
| 1-160084089-G-C | not specified | Uncertain significance (Nov 30, 2021) | ||
| 1-160084095-A-C | not specified | Uncertain significance (Dec 03, 2021) | ||
| 1-160084100-T-G | not specified | Uncertain significance (Feb 09, 2022) | ||
| 1-160084118-C-T | not specified | Uncertain significance (Oct 20, 2023) | ||
| 1-160084172-C-G | not specified | Uncertain significance (Mar 01, 2023) | ||
| 1-160084216-G-C | not specified | Uncertain significance (Apr 07, 2023) | ||
| 1-160084316-G-T | not specified | Uncertain significance (Dec 19, 2023) | ||
| 1-160084556-C-A | not specified | Uncertain significance (Apr 07, 2023) | ||
| 1-160084580-G-A | not specified | Uncertain significance (Jan 16, 2024) | ||
| 1-160084754-G-A | not specified | Uncertain significance (Mar 01, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KCNJ9 | protein_coding | protein_coding | ENST00000368088 | 2 | 8994 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.301 | 0.695 | 125702 | 0 | 7 | 125709 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 4.22 | 69 | 261 | 0.264 | 0.0000167 | 2508 |
| Missense in Polyphen | 21 | 135.22 | 0.15531 | 1244 | ||
| Synonymous | 2.18 | 94 | 125 | 0.752 | 0.00000886 | 823 |
| Loss of Function | 2.50 | 3 | 12.5 | 0.239 | 6.09e-7 | 117 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000178 | 0.000177 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000178 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: This receptor is controlled by G proteins. 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 (By similarity). {ECO:0000250}.;
- Pathway
- Oxytocin signaling pathway - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Morphine addiction - 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
(Consensus)
Recessive Scores
- pRec
- 0.142
Intolerance Scores
- loftool
- 0.154
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 42.88
Haploinsufficiency Scores
- pHI
- 0.526
- hipred
- Y
- hipred_score
- 0.736
- ghis
- 0.501
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.945
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kcnj9
- Phenotype
- 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); 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);
Gene ontology
- Biological process
- regulation of ion transmembrane transport;potassium ion import across plasma membrane
- Cellular component
- plasma membrane;parallel fiber to Purkinje cell synapse;integral component of presynaptic membrane
- Molecular function
- inward rectifier potassium channel activity;protein binding;G-protein activated inward rectifier potassium channel activity