CMYA5 (cardiomyopathy associated 5)

2014-11-01  

Identity

HGNC
CMYA5
LOCATION
5q14.1
LOCUSID
202333
ALIAS
C5orf10,SPRYD2,TRIM76
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
264034352018Association between CMYA5 gene polymorphisms and risk of schizophrenia in Uygur population and a meta-analysis.5
287769242018Updated meta-analysis of CMYA5 rs3828611 and rs4704591 with schizophrenia in Asian populations.2
264034352018Association between CMYA5 gene polymorphisms and risk of schizophrenia in Uygur population and a meta-analysis.5
287769242018Updated meta-analysis of CMYA5 rs3828611 and rs4704591 with schizophrenia in Asian populations.2
273506682016Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction.9
273506682016Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction.9
245247222014The cardiomyopathy-associated 5 (CMYA5) gene and risk of schizophrenia: meta-analysis of rs3828611 and rs4704591 in East Asian populations.2
249884822014The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population.5
245247222014The cardiomyopathy-associated 5 (CMYA5) gene and risk of schizophrenia: meta-analysis of rs3828611 and rs4704591 in East Asian populations.2
249884822014The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population.5
233357462013CMYA5: a new potential substrate of Kcna3 in human heart.0
235286142013An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population.2
237780162013Genetic analysis of common variants in the CMYA5 (cardiomyopathy-associated 5) gene with schizophrenia.2
233357462013CMYA5: a new potential substrate of Kcna3 in human heart.0
235286142013An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population.2

Citation

Dessen P

CMYA5 (cardiomyopathy associated 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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