MYOZ2 (myozenin 2)

2004-04-01 Affiliation

Identity

HGNC

MYOZ2

LOCATION

4q26

LOCUSID

51778

ALIAS

C4orf5,CMH16,CS-1,FATZ-2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000172399	ENST00000307128	Q9NPC6

Expression (GTEx)

100

150

200

250

300

350

400

450

500

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

References

Pubmed ID	Year	Title	Citations
30280773	2018	Expression and prognosis of MYOZ2 in gastric cancer.	3
30280773	2018	Expression and prognosis of MYOZ2 in gastric cancer.	3
28296734	2017	Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.	1
28296734	2017	Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.	1
22987565	2013	Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.	28
22987565	2013	Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.	28
20332099	2010	A 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
20332099	2010	A 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
18591919	2008	Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.	5
19472918	2008	Candidate-gene testing for orphan limb-girdle muscular dystrophies.	6
18591919	2008	Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.	5
19472918	2008	Candidate-gene testing for orphan limb-girdle muscular dystrophies.	6
17347475	2007	Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.	75
17347475	2007	Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.	75
17434779	2007	Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.	4

Citation

Dessen P

MYOZ2 (myozenin 2)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/41485/myoz2-(myozenin-2)