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 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), and any disease-causing paralogue missense variants that have been mapped to the residue, including 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 |
|---|---|---|---|---|
| 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) | ||
| 40-R | N-terminus | Prob. Benign (0) | ||
| 43-C | N-terminus | Prob. Benign (0) | ||
| 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 |
| 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 |
| 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 |
| 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 |
| 82-R | Transmembrane region | Arrhythmia (6) | 9 | KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul |
| 86-V | Transmembrane region | None | ||
| 87-I | Transmembrane region | Prob. Benign (0) | ||
| 91-A | Transmembrane region | Prob. Benign (0) | ||
| 93-V | Transmembrane region | Arrhythmia (4) | ||
| 98-F | Transmembrane region | Prob. Benign (0) | ||
| 101-C | Transmembrane region | Arrhythmia (3) | 9 | KCNJ10 - Autism, seizures & intellectual disability |
| 102-V | Transmembrane region | Prob. Benign (0) | ||
| 105-L | Transmembrane region | Prob. Benign (0) | ||
| 110-H | Transmembrane region | Prob. Benign (0) | ||
| 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 |
| 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 |
| 144-G | Transmembrane region | Arrhythmia (12) | 9 | KCNJ11 - Hyperinsulinism KCNJ5 - Aldosteronism with bilateral adrenal hyperplasia, Aldosteronism, early-onset KCNJ6 - Keppen-Lubinsky syndrome |
| 146-G | Transmembrane region | Arrhythmia (4) | 9 | KCNJ11 - Hyperinsulinism |
| 151-T | Transmembrane region | Prob. Benign (0) | 9 | KCNJ5 - Aldosteronism with bilateral adrenal hyperplasia |
| 154-C | Transmembrane region | Arrhythmia (1) | 9 | KCNJ10 - SeSAME syndrome |
| 156-I | Transmembrane region | Prob. Benign (0) | ||
| 159-F | Transmembrane region | Prob. Benign (0) | 9 | KCNJ11 - Hypoglycaemia, persistent hyperinsulinaemic |
| 167-V | Transmembrane region | Prob. Benign (0) | ||
| 171-I | Transmembrane region | Prob. Benign (0) | ||
| 172-D | Transmembrane region | Arrhythmia (2) | ||
| 173-A | Transmembrane region | Prob. Benign (0) | 9 | KCNJ11 - Hyperinsulinism |
| 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 |
| 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 |
| 189-R | C-terminus | Arrhythmia (1) | 9 | KCNJ1 - Bartter syndrome KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul KCNJ11 - Hyperinsulinism |
| 192-T | C-terminus | Arrhythmia (5) | 9 | KCNJ1 - Bartter syndrome |
| 202-A | C-terminus | Prob. Benign (0) | ||
| 206-G | C-terminus | Arrhythmia (1) | ||
| 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 |
| 227-V | C-terminus | Other Cardiac (3) | ||
| 232-L | C-terminus | Prob. Benign (0) | ||
| 237-T | C-terminus | Prob. Benign (0) | ||
| 246-D | C-terminus | Prob. Benign (0) | ||
| 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) | ||
| 267-I | C-terminus | Prob. Benign (0) | 9 | KCNJ13 - Leber congenital amaurosis |
| 269-I | C-terminus | None | ||
| 274-D | C-terminus | None | ||
| 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) | ||
| 295-V | C-terminus | Prob. Benign (0) | ||
| 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 ? |
| 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) | ||
| 312-R | C-terminus | Arrhythmia (4) | 9 | KCNJ1 - Bartter syndrome KCNJ10 - SeSAME syndrome KCNJ11 - Hyperinsulinism |
| 317-A | C-terminus | Prob. Benign (0) | ||
| 318-N | C-terminus | Arrhythmia (3) | ||
| 322-W | C-terminus | Arrhythmia (1) | ||
| 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) | ||
| 346-K | C-terminus | Arrhythmia (1) | ||
| 349-E | C-terminus | Prob. Benign (0) | ||
| 351-P | C-terminus | Arrhythmia (1) | 9 | KCNJ11 - Hyperinsulinism |
| 353-T | C-terminus | Prob. Benign (0) | ||
| 356-C | C-terminus | Prob. Benign (0) | ||
| 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) | ||
| 382-L | C-terminus | Conflict (1) | ||
| 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) |