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GENE AND PROTEIN SUMMARY

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Gene name

MYH6

Description

myosin, heavy chain 6, cardiac muscle, alpha

Protein class

Candidate cardiovascular disease genes, Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

2 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Focal Adhesions

Additional location(s)

Nucleus, Nucleoli 

Staining summary

Mainly localized to focal adhesion sites but also to the nucleus and nucleoli.

Reliability (APE)

Medium

Antibodies in assay

HPA001239, HPA001349
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Selective cytoplasmic expression in heart and skeletal muscle. This annotation is based on two antibodies recognizing homologous protein targets encoded by two or more genes. Caution: Based on antibodies targeting proteins from multiple genes.

Tissue specificity

Expressed in 2 out of 81 cell types

Reliability (APE)

High

Antibodies in assay

HPA001239, HPA001349
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 12% of the cancers

Antibodies in assay

HPA001239, HPA001349
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA001239

HPA001349

HPA001239

HPA001349

A-431 Skin Not detected
Moderate
A-549 Lung Not detected
CACO-2 Colon Low
HEK 293 Embryonal kidney Not detected
HeLa Cervix Low
Hep-G2 Liver Not detected
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Not detected
U-2 OS Bone Not detected
ModerateWeak
U-251 MG Brain Not detected
ModerateModerate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

Also mapped to

HPA001239 pAb
MYH7 (100%)
HPA001349 pAb
MYH1 (81%), MYH2 (82%), MYH4 (80%), MYH7 (87%), MYH8 (80%)