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.



Amino acid residues of KCNJ2 with 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.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
1-M N-terminus None3 KCNJ11 - Diabetes
2-G N-terminus None3 KCNJ11 - Diabetes, neonatal
33-G N-terminus Prob. Benign (0)2 KCNJ10 - Autism, seizures & intellectual disability
39-T N-terminus None3 KCNJ11 - Diabetes, type 2, early-onset autosomal dominant
44-R N-terminus None7 KCNJ5 - Sudden unexpected death in infancy
46-R N-terminus None8 KCNJ11 - Diabetes, neonatal, Hypoglycaemia, persistent hyperinsulinaemic
KCNJ5 - Hyperaldosteronism, type III
47-F N-terminus None9 KCNJ11 - Diabetes, permanent neonatal
50-K N-terminus None9 KCNJ1 - Bartter syndrome
51-D N-terminus None9 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 None9 KCNJ1 - Bartter syndrome
58-F N-terminus None9 KCNJ1 - Bartter syndrome
KCNJ11 - Diabetes, permanent neonatal, Diabetes, type 1B
60-N N-terminus None9 KCNJ11 - Diabetes, permanent neonatal, Diabetes, transient neonatal
61-V N-terminus None9 KCNJ11 - Hyperinsulinism
62-G N-terminus None6 KCNJ11 - Diabetes, permanent neonatal
64-K N-terminus None3 KCNJ11 - Diabetes, neonatal
65-G N-terminus None4 KCNJ11 - Diabetes, permanent neonatal
66-Q N-terminus None6 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
72-I N-terminus Prob. Benign (0)9 KCNJ11 - Diabetes, neonatal, Diabetes, permanent neonatal
73-F N-terminus None9 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 None9 KCNJ1 - Bartter syndrome
77-V N-terminus None9 KCNJ11 - Hyperinsulinism
KCNJ8 - Cantú syndrome
78-D N-terminus Arrhythmia (3)9 KCNJ1 - Bartter syndrome
80-R N-terminus Arrhythmia (1)9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism
81-W N-terminus None9 KCNJ11 - Diabetes, Diabetes, neonatal
82-R Transmembrane region Arrhythmia (6)9 KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul
83-W Transmembrane region None9 KCNJ1 - Bartter syndrome
84-M Transmembrane region None9 KCNJ11 - Hyperinsulinism
85-L Transmembrane region None9 KCNJ10 - SeSAME syndrome
92-F Transmembrane region None9 KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul
94-L Transmembrane region None9 KCNJ1 - Bartter syndrome, type II
KCNJ10 - Epilepsy, ataxia, sensorineural deafness and tubul
97-L Transmembrane region None9 KCNJ1 - Bartter syndrome
99-F Transmembrane region None9 KCNJ1 - Bartter syndrome
101-C Transmembrane region Arrhythmia (3)9 KCNJ10 - Autism, seizures & intellectual disability
103-F Transmembrane region None9 KCNJ1 - Bartter syndrome
104-W Transmembrane region None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hypoglycaemia, persistent hyperinsulinaemic
107-A Transmembrane region None9 KCNJ1 - Bartter syndrome
109-L Transmembrane region None9 KCNJ11 - Hyperinsulinism
111-G Transmembrane region None9 KCNJ11 - Hyperinsulinism
112-D Transmembrane region None9 KCNJ1 - Bartter syndrome
114-D Transmembrane region None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism
123-V Transmembrane region Arrhythmia (1)9 KCNJ1 - Bartter syndrome
125-E Transmembrane region None9 KCNJ1 - Bartter syndrome
128-S Transmembrane region None9 KCNJ11 - Hyperinsulinism
KCNJ13 - Leber congenital amaurosis
138-E Transmembrane region Arrhythmia (1)9 KCNJ11 - Hyperinsulinism
KCNJ5 - Hyperaldosteronism, type III
140-Q Transmembrane region None9 KCNJ11 - Hyperinsulinism
KCNJ13 - Leber congenital amaurosis ?
142-T Transmembrane region None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism
143-I Transmembrane region None9 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 None9 KCNJ5 - Hyperaldosteronism, type III
146-G Transmembrane region Arrhythmia (4)9 KCNJ11 - Hyperinsulinism
148-R Transmembrane region None9 KCNJ11 - Hyperinsulinism
150-V Transmembrane region None9 KCNJ5 - Hyperaldosteronism & early-onset hypertension
151-T Transmembrane region Prob. Benign (0)9 KCNJ5 - Aldosteronism with bilateral adrenal hyperplasia
152-D Transmembrane region None9 KCNJ1 - Bartter syndrome, type II
154-C Transmembrane region Arrhythmia (1)9 KCNJ10 - SeSAME syndrome
157-A Transmembrane region None9 KCNJ1 - Bartter syndrome
159-F Transmembrane region Prob. Benign (0)9 KCNJ11 - Hypoglycaemia, persistent hyperinsulinaemic
168-G Transmembrane region None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism
173-A Transmembrane region Prob. Benign (0)9 KCNJ11 - Hyperinsulinism
176-I Transmembrane region None9 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 None9 KCNJ10 - SeSAME syndrome
182-K C-terminus None9 KCNJ11 - Diabetes, permanent neonatal
184-A C-terminus None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism
185-K C-terminus None9 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 None9 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 None9 KCNJ11 - Diabetes, permanent neonatal
192-T C-terminus Arrhythmia (5)9 KCNJ1 - Bartter syndrome
194-V C-terminus None9 KCNJ11 - Diabetes, permanent neonatal, Diabetes, transient neonatal
197-H C-terminus None9 KCNJ11 - Diabetes, neonatal
198-N C-terminus None9 KCNJ11 - Diabetes, permanent neonatal
199-A C-terminus None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism, Hyperinsulinism of infancy
204-R C-terminus None9 KCNJ11 - Diabetes, type 2, early-onset autosomal dominant
KCNJ5 - Sudden unexpected death in infancy
208-L C-terminus None9 KCNJ10 - Hearing loss, digenic non-syndromic
212-W C-terminus None9 KCNJ1 - Bartter syndrome, type II
213-R C-terminus None9 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
218-R C-terminus Arrhythmia (22)9 KCNJ10 - Seizures, generalized
KCNJ11 - Hyperinsulinism
220-S C-terminus None9 KCNJ1 - Bartter syndrome
221-H C-terminus None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism
225-A C-terminus None9 KCNJ11 - Hyperinsulinism
229-A C-terminus None9 KCNJ1 - Bartter syndrome
233-K C-terminus None9 KCNJ11 - Hyperinsulinism and hemihypertrophy
235-R C-terminus None9 KCNJ11 - Hyperinsulinism
239-E C-terminus None9 KCNJ11 - Diabetes, transient neonatal
KCNJ5 - Hyperaldosteronism, type III
240-G C-terminus None9 KCNJ11 - Diabetes, neonatal
241-E C-terminus None9 KCNJ11 - Diabetes, transient neonatal
245-L C-terminus None8 KCNJ11 - Diabetes, neonatal
247-Q C-terminus None9 KCNJ11 - Hyperinsulinism
264-V C-terminus None9 KCNJ11 - Diabetes, neonatal
266-P C-terminus None9 KCNJ11 - Hyperinsulinism
267-I C-terminus Prob. Benign (0)9 KCNJ13 - Leber congenital amaurosis
271-H C-terminus None9 KCNJ11 - Hyperinsulinism
277-S C-terminus None9 KCNJ1 - Salt-losing tubulopathy ?
KCNJ16 - Brugada syndrome
278-P C-terminus None9 KCNJ11 - Hyperinsulinism, Sudden cardiac death in acute myocardial infarctio
279-L C-terminus Prob. Benign (0)9 KCNJ11 - Hyperinsulinaemic hypoglycaemia
282-L C-terminus Prob. Benign (0)9 KCNJ11 - Hyperinsulinaemic hypoglycaemia
292-F C-terminus None9 KCNJ11 - Hyperinsulinism
293-E C-terminus None9 KCNJ11 - Hyperinsulinism
296-V C-terminus None9 KCNJ11 - Diabetes, transient neonatal
298-L C-terminus Arrhythmia (1)9 KCNJ1 - Bartter syndrome
300-G C-terminus Arrhythmia (11)9 KCNJ11 - Hyperinsulinism
301-M C-terminus Arrhythmia (2)9 KCNJ11 - Hyperinsulinism
303-E C-terminus Arrhythmia (5)9 KCNJ11 - Diabetes, permanent neonatal, Hyperinsulinism
KCNJ13 - Leber congenital amaurosis ?
304-A C-terminus None9 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
310-Q C-terminus None9 KCNJ11 - Hyperinsulinism and hemihypertrophy
312-R C-terminus Arrhythmia (4)9 KCNJ1 - Bartter syndrome
KCNJ10 - SeSAME syndrome
KCNJ11 - Hyperinsulinism
314-S C-terminus None9 KCNJ1 - Bartter syndrome
315-Y C-terminus None9 KCNJ1 - Bartter syndrome
316-L C-terminus None9 KCNJ1 - Bartter syndrome
321-L C-terminus None9 KCNJ1 - Bartter syndrome
323-G C-terminus None9 KCNJ11 - Hyperinsulinism
326-Y C-terminus None9 KCNJ1 - Bartter syndrome
KCNJ11 - Hyperinsulinism
333-E C-terminus None8 KCNJ11 - Diabetes, permanent neonatal, Diabetes, transient neonatal
335-H C-terminus None9 KCNJ11 - Diabetes, neonatal
341-Y C-terminus None9 KCNJ11 - Diabetes, neonatal, Diabetes, permanent neonatal
344-F C-terminus None9 KCNJ11 - Diabetes, neonatal, Diabetes, permanent neonatal, Hyperinsulinism
345-H C-terminus None9 KCNJ11 - Diabetes, permanent neonatal
348-Y C-terminus None9 KCNJ8 - Sudden infant death syndrome
350-V C-terminus None9 KCNJ11 - Hyperinsulinism
351-P C-terminus Arrhythmia (1)9 KCNJ11 - Hyperinsulinism
354-P C-terminus None7 KCNJ11 - Hyperinsulinism of infancy
358-A C-terminus None6 KCNJ1 - Bartter syndrome
359-R C-terminus None6 KCNJ10 - Hearing loss, digenic non-syndromic, Hyperinsulinism
KCNJ11 - Hyperinsulinism
360-D C-terminus None7 KCNJ1 - Bartter syndrome
364-K C-terminus Prob. Benign (0)5 KCNJ11 - Diabetes, transient neonatal
373-S C-terminus None2 KCNJ5 - Long QT syndrome
377-E C-terminus None2 KCNJ11 - Diabetes, neonatal, Hyperinsulinism
378-N C-terminus None2 KCNJ11 - Diabetes, type 1B
383-T C-terminus None3 KCNJ11 - Sudden cardiac death in acute myocardial infarctio
425-S C-terminus Prob. Benign (0)4 KCNJ8 - Ventricular fibrillation