MYOZ2 (myozenin 2)

2004-04-01  

Identity

HGNC
LOCATION
4q26
LOCUSID
ALIAS
C4orf5,CMH16,CS-1,FATZ-2
FUSION GENES

Other Information

Locus ID:

NCBI: 51778
MIM: 605602
HGNC: 1330
Ensembl: ENSG00000172399

Variants:

dbSNP: 51778
ClinVar: 51778
TCGA: ENSG00000172399
COSMIC: MYOZ2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172399ENST00000307128Q9NPC6

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173474752007Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.63
173474752007Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.63
229875652013Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.19
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
194729182008Candidate-gene testing for orphan limb-girdle muscular dystrophies.4
185919192008Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.2
302807732018Expression and prognosis of MYOZ2 in gastric cancer.1
174347792007Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.0
282967342017Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.0

Citation

Dessen P

MYOZ2 (myozenin 2)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/41485/myoz2