MYPN (myopalladin)

2003-12-01  

Identity

HGNC
LOCATION
10q21.3
LOCUSID
ALIAS
CMD1DD,CMH22,MYOP,NEM11,RCM4

Other Information

Locus ID:

NCBI: 84665
MIM: 608517
HGNC: 23246
Ensembl: ENSG00000138347

Variants:

dbSNP: 84665
ClinVar: 84665
TCGA: ENSG00000138347
COSMIC: MYPN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138347ENST00000354393Q86TC9
ENSG00000138347ENST00000358913Q86TC9
ENSG00000138347ENST00000373675Q86TC9
ENSG00000138347ENST00000540630Q86TC9
ENSG00000138347ENST00000613327A0A087WX60

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
180064772008Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.34
124825782002Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin.25
222861712012Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.25
280173742017Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.19
255411302014Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.12
282205272017Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.10
228925392013Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.9
284274172017Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.7

Citation

Dessen P

MYPN (myopalladin)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41486/mypn