KCNIP2
potassium voltage-gated channel interacting protein 2, the group of EF-hand domain containing|Potassium voltage-gated channel regulatory subunits
Basic information
Region (hg38): 10:101825973-101843920
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 KCNIP2 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 0 | 0 |
Variants in KCNIP2
This is a list of pathogenic ClinVar variants found in the KCNIP2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 10-101827399-T-A | not specified | Uncertain significance (May 02, 2024) | ||
| 10-101827691-T-G | not specified | Uncertain significance (Dec 19, 2022) | ||
| 10-101827748-T-C | not specified | Uncertain significance (Jun 02, 2023) | ||
| 10-101827929-C-T | not specified | Uncertain significance (Jun 01, 2023) | ||
| 10-101827993-C-T | not specified | Uncertain significance (Oct 14, 2023) | ||
| 10-101828237-C-T | not specified | Uncertain significance (May 29, 2024) | ||
| 10-101828452-G-C | not specified | Uncertain significance (May 03, 2023) | ||
| 10-101829113-G-A | not specified | Uncertain significance (Jun 18, 2021) | ||
| 10-101829919-C-G | not specified | Uncertain significance (Mar 08, 2024) | ||
| 10-101831124-G-T | not specified | Uncertain significance (Mar 14, 2023) | ||
| 10-101843552-C-T | not specified | Uncertain significance (Jun 16, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KCNIP2 | protein_coding | protein_coding | ENST00000461105 | 10 | 17947 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0154 | 0.980 | 125727 | 0 | 17 | 125744 | 0.0000676 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.87 | 92 | 158 | 0.581 | 0.00000863 | 1882 |
| Missense in Polyphen | 29 | 66.102 | 0.43871 | 767 | ||
| Synonymous | 1.11 | 50 | 61.0 | 0.820 | 0.00000346 | 516 |
| Loss of Function | 2.46 | 6 | 16.9 | 0.355 | 8.19e-7 | 199 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000300 | 0.000300 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000491 | 0.0000462 |
| European (Non-Finnish) | 0.0000441 | 0.0000439 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000981 | 0.0000980 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity). {ECO:0000250|UniProtKB:Q9JJ69, ECO:0000269|PubMed:10676964, ECO:0000269|PubMed:11287421, ECO:0000269|PubMed:11684073, ECO:0000269|PubMed:12297301, ECO:0000269|PubMed:12829703, ECO:0000269|PubMed:14623880}.;
- Pathway
- Antiarrhythmic Pathway, Pharmacodynamics;Levomethadyl Acetate Action Action Pathway;Disopyramide Action Pathway;Procainamide (Antiarrhythmic) Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Fosphenytoin (Antiarrhythmic) Action Pathway;Bopindolol Action Pathway;Timolol Action Pathway;Carteolol Action Pathway;Fluoxetine Action Pathway;Citalopram Action Pathway;Escitalopram Action Pathway;Imipramine Action Pathway;Desipramine Action Pathway;Levallorphan Action Pathway;Dimethylthiambutene Action Pathway;Ethylmorphine Action Pathway;Pentazocine Action Pathway;Naltrexone Action Pathway;Buprenorphine Action Pathway;Alvimopan Action Pathway;Naloxone Action Pathway;Dihydromorphine Action Pathway;Bevantolol Action Pathway;Practolol Action Pathway;Dobutamine Action Pathway;Isoprenaline Action Pathway;Arbutamine Action Pathway;Amiodarone Action Pathway;Levobunolol Action Pathway;Metipranolol Action Pathway;Mexiletine Action Pathway;Lidocaine (Antiarrhythmic) Action Pathway;Quinidine Action Pathway;Sotalol Action Pathway;Epinephrine Action Pathway;Betaxolol Action Pathway;Atenolol Action Pathway;Alprenolol Action Pathway;Acebutolol Action Pathway;Nicotine Action Pathway;Nalbuphine Action Pathway;Ketobemidone Action Pathway;Lidocaine (Local Anaesthetic) Action Pathway;Mepivacaine Action Pathway;Chloroprocaine Action Pathway;Cocaine Action Pathway;Dibucaine Action Pathway;Levobupivacaine Action Pathway;Benzocaine Action Pathway;Bupivacaine Action Pathway;Muscle/Heart Contraction;Diltiazem Action Pathway;Propranolol Action Pathway;Pindolol Action Pathway;Penbutolol Action Pathway;Oxprenolol Action Pathway;Metoprolol Action Pathway;Esmolol Action Pathway;Bisoprolol Action Pathway;Levorphanol Action Pathway;Propoxyphene Action Pathway;Tramadol Action Action Pathway;Bupranolol Action Pathway;Diphenoxylate Action Pathway;Anileridine Action Pathway;Methadone Action Pathway;Oxycodone Action Pathway;Oxybuprocaine Action Pathway;Prilocaine Action Pathway;Procaine Action Pathway;Proparacaine Action Pathway;Ropivacaine Action Pathway;Codeine Action Pathway;Morphine Action Pathway;Heroin Action Pathway;Nebivolol Action Pathway;Amlodipine Action Pathway;Verapamil Action Pathway;Nitrendipine Action Pathway;Nisoldipine Action Pathway;Nimodipine Action Pathway;Ibutilide Action Pathway;Tocainide Action Pathway;Flecainide Action Pathway;Alfentanil Action Pathway;Oxymorphone Action Pathway;Hydrocodone Action Pathway;Hydromorphone Action Pathway;Sufentanil Action Pathway;Remifentanil Action Pathway;Fentanyl Action Pathway;Carfentanil Action Pathway;Isradipine Action Pathway;Nifedipine Action Pathway;Felodipine Action Pathway;Nadolol Action Pathway;Carvedilol Action Pathway;Labetalol Action Pathway;3-Methylthiofentanyl Action Pathway;Methadyl Acetate Action Pathway;Dezocine Action Pathway;Phase 1 - inactivation of fast Na+ channels;Cardiac conduction;Muscle contraction
(Consensus)
Recessive Scores
- pRec
- 0.155
Intolerance Scores
- loftool
- 0.839
- rvis_EVS
- -0.3
- rvis_percentile_EVS
- 32.62
Haploinsufficiency Scores
- pHI
- 0.408
- hipred
- Y
- hipred_score
- 0.603
- ghis
- 0.582
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.469
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Kcnip2
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Gene ontology
- Biological process
- detection of calcium ion;potassium ion transport;muscle contraction;signal transduction;chemical synaptic transmission;regulation of heart contraction;clustering of voltage-gated potassium channels;membrane repolarization;membrane repolarization during cardiac muscle cell action potential;potassium ion export across plasma membrane;regulation of potassium ion transmembrane transport;positive regulation of potassium ion export across plasma membrane;positive regulation of voltage-gated potassium channel activity
- Cellular component
- cytoplasm;plasma membrane;voltage-gated potassium channel complex;potassium channel complex
- Molecular function
- A-type (transient outward) potassium channel activity;calcium ion binding;protein binding;potassium channel regulator activity;ion channel binding;ER retention sequence binding;protein N-terminus binding;voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization