KCNJ2 Paralogue Annotation
This page details the annotation of KCNJ2 with disease causing variants in the following paralogues: KCNJ11, KCNJ1, KCNJ10, KCNJ5, KCNJ13, KCNJ8, KCNJ16, KCNJ6. Click here to see the multiple sequence alignment of KCNJ2 with all paralogues.
The paralogue variant mappings to KCNJ2 are based on the Locus Reference Genomic entry for KCNJ2 - LRG_328. This is based on the transcript ENST00000535240 and protein ENSP00000441848 (427 amino acids) for the Ensembl gene ENSG00000123700.
- Paralogue Annotations
- Known KCNJ2 Variants
- All Variants and Paralogue Annotations
Amino acid residues of KCNJ2 with known missense variants or mapped disease-causing missense variants from paralogues are shown below, along with details about the KCNJ2 protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known KCNJ2 variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 1-M | N-terminus | None | 3 | KCNJ11 - Diabetes |
| 2-G | N-terminus | None | 3 | KCNJ11 - Diabetes, neonatal |
| 4-V | N-terminus | Prob. Benign (0) | ||
| 5-R | N-terminus | Prob. Benign (0) | ||
| 6-T | N-terminus | Prob. Benign (0) | ||
| 8-R | N-terminus | Prob. Benign (0) | ||
| 16-E | N-terminus | Prob. Benign (0) | ||
| 17-D | N-terminus | Prob. Benign (0) | ||
| 33-G | N-terminus | Prob. Benign (0) | 2 | KCNJ10 - Autism, seizures & intellectual disability |
| 34-K | N-terminus | Prob. Benign (0) | ||
| 35-S | N-terminus | Prob. Benign (0) | ||
| 39-T | N-terminus | None | 3 | KCNJ11 - Diabetes, type 2, early-onset autosomal dominant |
| 40-R | N-terminus | Prob. Benign (0) | ||
| 43-C | N-terminus | Prob. Benign (0) | ||
| 44-R | N-terminus | None | 7 | KCNJ5 - Sudden unexpected death in infancy |
| 46-R | N-terminus | None | 8 | KCNJ11 - Diabetes, neonatal, Hypoglycaemia, persistent hyperinsulinaemic KCNJ5 - Hyperaldosteronism, type III |
| 47-F | N-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal |
| 50-K | N-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 51-D | N-terminus | None | 9 | KCNJ11 - Diabetes mellitus, neonatal |
| 52-G | N-terminus | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome, antenatal KCNJ11 - Hyperinsulinism |
| 54-C | N-terminus | Arrhythmia (3) | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Diabetes mellitus |
| 56-V | N-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 58-F | N-terminus | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Diabetes, permanent neonatal, Diabetes, type 1B |
| 60-N | N-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal, Diabetes, transient neonatal |
| 61-V | N-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 62-G | N-terminus | None | 6 | KCNJ11 - Diabetes, permanent neonatal |
| 64-K | N-terminus | None | 3 | KCNJ11 - Diabetes, neonatal |
| 65-G | N-terminus | None | 4 | KCNJ11 - Diabetes, permanent neonatal |
| 66-Q | N-terminus | None | 6 | KCNJ11 - Diabetes, permanent neonatal, Diabetes, transient neonatal |
| 67-R | N-terminus | Arrhythmia (12) | 8 | KCNJ11 - Hyperinsulinism |
| 68-Y | N-terminus | Arrhythmia (3) | 9 | KCNJ11 - Hyperinsulinism |
| 70-A | N-terminus | Prob. Benign (0) | ||
| 71-D | N-terminus | Arrhythmia (7) | ||
| 72-I | N-terminus | Prob. Benign (0) | 9 | KCNJ11 - Diabetes, neonatal, Diabetes, permanent neonatal |
| 73-F | N-terminus | None | 9 | KCNJ11 - Diabetes, neonatal with neurological symptoms |
| 74-T | N-terminus | Arrhythmia (3) | 9 | KCNJ10 - SeSAME syndrome |
| 75-T | N-terminus | Arrhythmia (5) | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Diabetes, neonatal |
| 76-C | N-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 77-V | N-terminus | None | 9 | KCNJ11 - Hyperinsulinism KCNJ8 - Cantú syndrome |
| 78-D | N-terminus | Arrhythmia (3) | 9 | KCNJ1 - Bartter syndrome |
| 79-I | N-terminus | None | ||
| 80-R | N-terminus | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism |
| 81-W | N-terminus | None | 9 | KCNJ11 - Diabetes, Diabetes, neonatal |
| 82-R | Transmembrane region | Arrhythmia (6) | 9 | KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul |
| 83-W | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 84-M | Transmembrane region | None | 9 | KCNJ11 - Hyperinsulinism |
| 85-L | Transmembrane region | None | 9 | KCNJ10 - SeSAME syndrome |
| 86-V | Transmembrane region | None | ||
| 87-I | Transmembrane region | Prob. Benign (0) | ||
| 91-A | Transmembrane region | Prob. Benign (0) | ||
| 92-F | Transmembrane region | None | 9 | KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul |
| 93-V | Transmembrane region | Arrhythmia (4) | ||
| 94-L | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome, type II KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul |
| 97-L | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 98-F | Transmembrane region | Prob. Benign (0) | ||
| 99-F | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 101-C | Transmembrane region | Arrhythmia (3) | 9 | KCNJ10 - Autism, seizures & intellectual disability |
| 102-V | Transmembrane region | Prob. Benign (0) | ||
| 103-F | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 104-W | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hypoglycaemia, persistent hyperinsulinaemic |
| 105-L | Transmembrane region | Prob. Benign (0) | ||
| 107-A | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 109-L | Transmembrane region | None | 9 | KCNJ11 - Hyperinsulinism |
| 110-H | Transmembrane region | Prob. Benign (0) | ||
| 111-G | Transmembrane region | None | 9 | KCNJ11 - Hyperinsulinism |
| 112-D | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 114-D | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism |
| 115-A | Transmembrane region | None | ||
| 118-E | Transmembrane region | Prob. Benign (0) | ||
| 120-K | Transmembrane region | Prob. Benign (0) | ||
| 123-V | Transmembrane region | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome |
| 125-E | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 128-S | Transmembrane region | None | 9 | KCNJ11 - Hyperinsulinism KCNJ13 - Leber congenital amaurosis |
| 130-T | Transmembrane region | Prob. Benign (0) | ||
| 136-S | Transmembrane region | Arrhythmia (5) | ||
| 137-I | Transmembrane region | Prob. Benign (0) | ||
| 138-E | Transmembrane region | Arrhythmia (1) | 9 | KCNJ11 - Hyperinsulinism KCNJ5 - Hyperaldosteronism, type III |
| 140-Q | Transmembrane region | None | 9 | KCNJ11 - Hyperinsulinism KCNJ13 - Leber congenital amaurosis ? |
| 142-T | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism |
| 143-I | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome KCNJ10 - SeSAME syndrome KCNJ13 - Vitreoretinal dystrophy with early-onset cataract |
| 144-G | Transmembrane region | Arrhythmia (12) | 9 | KCNJ11 - Hyperinsulinism KCNJ5 - Aldosteronism with bilateral adrenal hyperplasia, Aldosteronism, early-onset KCNJ6 - Keppen-Lubinsky syndrome |
| 145-Y | Transmembrane region | None | 9 | KCNJ5 - Hyperaldosteronism, type III |
| 146-G | Transmembrane region | Arrhythmia (4) | 9 | KCNJ11 - Hyperinsulinism |
| 148-R | Transmembrane region | None | 9 | KCNJ11 - Hyperinsulinism |
| 150-V | Transmembrane region | None | 9 | KCNJ5 - Hyperaldosteronism & early-onset hypertension |
| 151-T | Transmembrane region | Prob. Benign (0) | 9 | KCNJ5 - Aldosteronism with bilateral adrenal hyperplasia |
| 152-D | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome, type II |
| 154-C | Transmembrane region | Arrhythmia (1) | 9 | KCNJ10 - SeSAME syndrome |
| 156-I | Transmembrane region | Prob. Benign (0) | ||
| 157-A | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome |
| 159-F | Transmembrane region | Prob. Benign (0) | 9 | KCNJ11 - Hypoglycaemia, persistent hyperinsulinaemic |
| 167-V | Transmembrane region | Prob. Benign (0) | ||
| 168-G | Transmembrane region | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism |
| 171-I | Transmembrane region | Prob. Benign (0) | ||
| 172-D | Transmembrane region | Arrhythmia (2) | ||
| 173-A | Transmembrane region | Prob. Benign (0) | 9 | KCNJ11 - Hyperinsulinism |
| 176-I | Transmembrane region | None | 9 | KCNJ11 - Diabetes, permanent neonatal |
| 178-A | Transmembrane region | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome KCNJ10 - SeSAME syndrome KCNJ11 - Diabetes, neonatal, Diabetes, permanent neonatal KCNJ8 - Cantú syndrome |
| 179-V | C-terminus | Prob. Benign (0) | 9 | KCNJ11 - DEND syndrome, Diabetes, permanent neonatal |
| 181-A | C-terminus | None | 9 | KCNJ10 - SeSAME syndrome |
| 182-K | C-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal |
| 184-A | C-terminus | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism |
| 185-K | C-terminus | None | 9 | KCNJ13 - Leber congenital amaurosis ?, Snowflake vitreoretinal degeneration |
| 186-P | C-terminus | Arrhythmia (2) | 9 | KCNJ11 - Diabetes, transient neonatal, Hyperinsulinism of infancy |
| 187-K | C-terminus | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome, antenatal |
| 188-K | C-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal ? |
| 189-R | C-terminus | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul KCNJ11 - Hyperinsulinism |
| 191-E | C-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal |
| 192-T | C-terminus | Arrhythmia (5) | 9 | KCNJ1 - Bartter syndrome |
| 194-V | C-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal, Diabetes, transient neonatal |
| 197-H | C-terminus | None | 9 | KCNJ11 - Diabetes, neonatal |
| 198-N | C-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal |
| 199-A | C-terminus | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism, Hyperinsulinism of infancy |
| 202-A | C-terminus | Prob. Benign (0) | ||
| 204-R | C-terminus | None | 9 | KCNJ11 - Diabetes, type 2, early-onset autosomal dominant KCNJ5 - Sudden unexpected death in infancy |
| 206-G | C-terminus | Arrhythmia (1) | ||
| 208-L | C-terminus | None | 9 | KCNJ10 - Hearing loss, digenic non-syndromic |
| 212-W | C-terminus | None | 9 | KCNJ1 - Bartter syndrome, type II |
| 213-R | C-terminus | None | 9 | KCNJ11 - Diabetes, juvenile-onset, Diabetes, neonatal, Diabetes, permanent neonatal |
| 215-G | C-terminus | Arrhythmia (3) | 9 | KCNJ1 - Bartter syndrome |
| 216-N | C-terminus | Arrhythmia (2) | 9 | KCNJ11 - Hyperinsulinism |
| 217-L | C-terminus | Arrhythmia (2) | ||
| 218-R | C-terminus | Arrhythmia (22) | 9 | KCNJ10 - Seizures, generalized KCNJ11 - Hyperinsulinism |
| 220-S | C-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 221-H | C-terminus | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism |
| 225-A | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 227-V | C-terminus | Other Cardiac (3) | ||
| 229-A | C-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 232-L | C-terminus | Prob. Benign (0) | ||
| 233-K | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism and hemihypertrophy |
| 235-R | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 237-T | C-terminus | Prob. Benign (0) | ||
| 239-E | C-terminus | None | 9 | KCNJ11 - Diabetes, transient neonatal KCNJ5 - Hyperaldosteronism, type III |
| 240-G | C-terminus | None | 9 | KCNJ11 - Diabetes, neonatal |
| 241-E | C-terminus | None | 9 | KCNJ11 - Diabetes, transient neonatal |
| 245-L | C-terminus | None | 8 | KCNJ11 - Diabetes, neonatal |
| 246-D | C-terminus | Prob. Benign (0) | ||
| 247-Q | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 248-I | C-terminus | Prob. Benign (0) | ||
| 258-I | C-terminus | None | ||
| 260-R | C-terminus | Arrhythmia (2) | ||
| 261-I | C-terminus | Prob. Benign (0) | ||
| 264-V | C-terminus | None | 9 | KCNJ11 - Diabetes, neonatal |
| 266-P | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 267-I | C-terminus | Prob. Benign (0) | 9 | KCNJ13 - Leber congenital amaurosis |
| 269-I | C-terminus | None | ||
| 271-H | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 274-D | C-terminus | None | ||
| 277-S | C-terminus | None | 9 | KCNJ1 - Salt-losing tubulopathy ? KCNJ16 - Brugada syndrome |
| 278-P | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism, Sudden cardiac death in acute myocardial infarctio |
| 279-L | C-terminus | Prob. Benign (0) | 9 | KCNJ11 - Hyperinsulinaemic hypoglycaemia |
| 281-D | C-terminus | Prob. Benign (0) | ||
| 282-L | C-terminus | Prob. Benign (0) | 9 | KCNJ11 - Hyperinsulinaemic hypoglycaemia |
| 283-S | C-terminus | Prob. Benign (0) | ||
| 285-Q | C-terminus | Prob. Benign (0) | ||
| 286-D | C-terminus | Prob. Benign (0) | ||
| 287-I | C-terminus | Prob. Benign (0) | ||
| 292-F | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 293-E | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 295-V | C-terminus | Prob. Benign (0) | ||
| 296-V | C-terminus | None | 9 | KCNJ11 - Diabetes, transient neonatal |
| 298-L | C-terminus | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome |
| 299-E | C-terminus | Arrhythmia (1) | ||
| 300-G | C-terminus | Arrhythmia (11) | 9 | KCNJ11 - Hyperinsulinism |
| 301-M | C-terminus | Arrhythmia (2) | 9 | KCNJ11 - Hyperinsulinism |
| 302-V | C-terminus | Arrhythmia (3) | ||
| 303-E | C-terminus | Arrhythmia (5) | 9 | KCNJ11 - Diabetes, permanent neonatal, Hyperinsulinism KCNJ13 - Leber congenital amaurosis ? |
| 304-A | C-terminus | None | 9 | KCNJ11 - DEND syndrome, intermediate |
| 305-T | C-terminus | Arrhythmia (6) | 9 | KCNJ11 - Hyperinsulinism |
| 307-M | C-terminus | Arrhythmia (2) | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Diabetes, permanent neonatal |
| 308-T | C-terminus | Prob. Benign (0) | ||
| 309-T | C-terminus | Arrhythmia (2) | ||
| 310-Q | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism and hemihypertrophy |
| 312-R | C-terminus | Arrhythmia (4) | 9 | KCNJ1 - Bartter syndrome KCNJ10 - SeSAME syndrome KCNJ11 - Hyperinsulinism |
| 314-S | C-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 315-Y | C-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 316-L | C-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 317-A | C-terminus | Prob. Benign (0) | ||
| 318-N | C-terminus | Arrhythmia (3) | ||
| 321-L | C-terminus | None | 9 | KCNJ1 - Bartter syndrome |
| 322-W | C-terminus | Arrhythmia (1) | ||
| 323-G | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 325-R | C-terminus | Prob. Benign (0) | ||
| 326-Y | C-terminus | None | 9 | KCNJ1 - Bartter syndrome KCNJ11 - Hyperinsulinism |
| 329-V | C-terminus | Prob. Benign (0) | ||
| 330-L | C-terminus | Prob. Benign (0) | ||
| 333-E | C-terminus | None | 8 | KCNJ11 - Diabetes, permanent neonatal, Diabetes, transient neonatal |
| 335-H | C-terminus | None | 9 | KCNJ11 - Diabetes, neonatal |
| 341-Y | C-terminus | None | 9 | KCNJ11 - Diabetes, neonatal, Diabetes, permanent neonatal |
| 344-F | C-terminus | None | 9 | KCNJ11 - Diabetes, neonatal, Diabetes, permanent neonatal, Hyperinsulinism |
| 345-H | C-terminus | None | 9 | KCNJ11 - Diabetes, permanent neonatal |
| 346-K | C-terminus | Arrhythmia (1) | ||
| 348-Y | C-terminus | None | 9 | KCNJ8 - Sudden infant death syndrome |
| 349-E | C-terminus | Prob. Benign (0) | ||
| 350-V | C-terminus | None | 9 | KCNJ11 - Hyperinsulinism |
| 351-P | C-terminus | Arrhythmia (1) | 9 | KCNJ11 - Hyperinsulinism |
| 353-T | C-terminus | Prob. Benign (0) | ||
| 354-P | C-terminus | None | 7 | KCNJ11 - Hyperinsulinism of infancy |
| 356-C | C-terminus | Prob. Benign (0) | ||
| 358-A | C-terminus | None | 6 | KCNJ1 - Bartter syndrome |
| 359-R | C-terminus | None | 6 | KCNJ10 - Hearing loss, digenic non-syndromic, Hyperinsulinism KCNJ11 - Hyperinsulinism |
| 360-D | C-terminus | None | 7 | KCNJ1 - Bartter syndrome |
| 362-A | C-terminus | Prob. Benign (0) | ||
| 364-K | C-terminus | Prob. Benign (0) | 5 | KCNJ11 - Diabetes, transient neonatal |
| 365-K | C-terminus | Prob. Benign (0) | ||
| 370-N | C-terminus | Prob. Benign (0) | ||
| 371-A | C-terminus | Prob. Benign (0) | ||
| 373-S | C-terminus | None | 2 | KCNJ5 - Long QT syndrome |
| 377-E | C-terminus | None | 2 | KCNJ11 - Diabetes, neonatal, Hyperinsulinism |
| 378-N | C-terminus | None | 2 | KCNJ11 - Diabetes, type 1B |
| 382-L | C-terminus | Conflict (1) | ||
| 383-T | C-terminus | None | 3 | KCNJ11 - Sudden cardiac death in acute myocardial infarctio |
| 389-D | C-terminus | Prob. Benign (0) | ||
| 390-S | C-terminus | Prob. Benign (0) | ||
| 400-T | C-terminus | Arrhythmia (2) | ||
| 402-T | C-terminus | Prob. Benign (0) | ||
| 403-P | C-terminus | Prob. Benign (0) | ||
| 404-P | C-terminus | Prob. Benign (0) | ||
| 406-I | C-terminus | Prob. Benign (0) | ||
| 408-L | C-terminus | Prob. Benign (0) | ||
| 410-N | C-terminus | Arrhythmia (0) | ||
| 413-S | C-terminus | Prob. Benign (0) | ||
| 415-P | C-terminus | Prob. Benign (0) | ||
| 420-P | C-terminus | Prob. Benign (0) | ||
| 422-R | C-terminus | Arrhythmia (1) | ||
| 423-R | C-terminus | Prob. Benign (0) | ||
| 425-S | C-terminus | Prob. Benign (0) | 4 | KCNJ8 - Ventricular fibrillation |