DisGeNET - a database of gene-disease associations

KCNJ2, potassium inwardly rectifying channel subfamily J member 2, 3759

N. diseases: 117; N. variants: 33

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894584

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1865018
Disease:

Short QT Syndrome 3

0.820

GeneticVariation

BEFREE

A gain-of-function KCNJ2 D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death.

29290967

2017

dbSNP:

rs104894584

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1865018
Disease:

Short QT Syndrome 3

0.820

GeneticVariation

BEFREE

One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)).

22308236

2012

dbSNP:

rs104894584

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1865018
Disease:

Short QT Syndrome 3

0.820

GeneticVariation

UNIPROT

Although we were unable to test for inducibility of arrhythmia susceptibility due to lack of patients' consent, our computer simulations predict a steeper steady-state restitution curve for the D172N and WT/D172N mutation, compared with WT or to HERG or KvLQT1 mutations, which may predispose SQT3 patients to a greater risk of reentrant arrhythmias.

15761194

2005

dbSNP:

rs104894584

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1865018
Disease:

Short QT Syndrome 3

0.820

CausalMutation

CLINVAR

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

BEFREE

We determined that WT and D71V AS mutant KIR2.1 channels are localized to the sarcolemma and the transverse tubules (T-tubules) of skeletal muscle fibers, while the ∆314-315 AS KIR2.1 mutation prevents proper trafficking of the homo- or hetero-meric channel complexes.

29018970

2018

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

24861851

2015

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

18452873

2008

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

17324964

2007

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

17324964

2007

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation.

17582433

2007

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

BEFREE

T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.

17582433

2007

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.

17341397

2007

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

16571646

2006

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

16571646

2006

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.

15911703

2005

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

16217063

2005

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

12163457

2002

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

12148092

2002

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

12163457

2002

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.

12148092

2002

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

11371347

2001

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

GeneticVariation

UNIPROT

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

11371347

2001

dbSNP:

rs104894575

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894585

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.810

CausalMutation

CLINVAR

dbSNP:

rs104894578

Entrez Id:	3759
Gene Symbol:	KCNJ2

KCNJ2

CUI:	C1563715
Disease:

Andersen Syndrome

0.800

CausalMutation

CLINVAR

Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS.

25415519

2014