CMYA5 (cardiomyopathy associated 5)

2014-11-01  

Identity

HGNC
LOCATION
5q14.1
LOCUSID
ALIAS
C5orf10,SPRYD2,TRIM76
FUSION GENES

Other Information

Locus ID:

NCBI: 202333
MIM: 612193
HGNC: 14305
Ensembl: ENSG00000164309

Variants:

dbSNP: 202333
ClinVar: 202333
TCGA: ENSG00000164309
COSMIC: CMYA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164309ENST00000446378Q8N3K9

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
178729452007Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin.25
208383962011GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.25
164072362006Myospryn is a direct transcriptional target for MEF2A that encodes a striated muscle, alpha-actinin-interacting, costamere-localized protein.21
206342902010Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.19
191400172008Biology of myospryn: what's known?12
183446302007Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension.10
183446302007Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension.10
273506682016Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction.7
212959482011A common variant of the cardiomyopathy associated 5 gene (CMYA5) is associated with schizophrenia in Chinese population.4
264034352018Association between CMYA5 gene polymorphisms and risk of schizophrenia in Uygur population and a meta-analysis.3

Citation

Dessen P

CMYA5 (cardiomyopathy associated 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61928/cmya5