DisGeNET - a database of gene-disease associations

JPH2, junctophilin 2, 57158

N. diseases: 29; N. variants: 11

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:

rs1326977511

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.010

GeneticVariation

BEFREE

Among 195 Japanese patients (148 index cases and 47 affected family members) with hypertrophic cardiomyopathy (HCM), two heterozygous nonsynonymous nucleotide transitions, G505S and R436C, were newly found in JPH2.

17476457

2007

dbSNP:

rs140740776

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.010

GeneticVariation

BEFREE

When Fisher's exact test was used to compare index cases with HCM to unrelated Japanese healthy controls in the frequencies of mutant alleles, only the G505S mutation showed statistical significance (4/296 HCM patients and 0/472 control individuals, P=0.022).

17476457

2007

dbSNP:

rs2235808

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0201976
Disease:

Creatinine measurement, serum (procedure)

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016

dbSNP:

rs2235808

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

26831199

2016

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

17509612

2007

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

24001019

2013

dbSNP:

rs387906897

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

17509612

2007

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

24001019

2013

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.800

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs387906898

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.010

GeneticVariation

BEFREE

Three novel HCM-susceptibility mutations: S101R, Y141H and S165F, which localize to key functional domains, were discovered in 3/388 unrelated patients with HCM and were absent in 1000 ethnic-matched reference alleles.

17509612

2007

dbSNP:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

24001019

2013

dbSNP:

rs557878787

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

17509612

2007

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.

17509612

2007

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

24001019

2013

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

28393127

2017

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0949658
Disease:

Cardiomyopathy, Hypertrophic, Familial

0.700

GeneticVariation

CLINVAR

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C3151264
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17

0.700

GeneticVariation

UNIPROT

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018

dbSNP:

rs587782951

Entrez Id:	57158
Gene Symbol:	JPH2

JPH2

CUI:	C0018801
Disease:

Heart failure

0.010

GeneticVariation

BEFREE

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.

30235249

2018