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MYL2

GENERAL INFORMATION

Gene name

 MYL2

Gene description

 Myosin, light chain 2, regulatory, cardiac, slow

Protein class

 Candidate cardiovascular disease genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (heart muscle, skeletal muscle)
GTEx:Group enriched (heart muscle, skeletal muscle)
FANTOM5:Group enriched (heart muscle, skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Selective cytoplasmic expression in heart and skeletal muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 2 antibodies.
HPA019763 , HPA039262
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, skeletal muscle)

GENE INFORMATION

Gene name

 MYL2 (HGNC Symbol)

Synonyms

 CMH10

Description

 Myosin, light chain 2, regulatory, cardiac, slow (HGNC Symbol)

Entrez gene summary

 Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

Chromosome

 12

Cytoband

 q24.11

Chromosome location (bp)

 110910819 - 110920722

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000111245 (version 83.38)

Entrez gene

 4633

UniProt

 P10916 (UniProt - Evidence at protein level)

neXtProt

 NX_P10916

Antibodypedia

 MYL2 antibodies

PROTEIN BROWSER
MYL2-001
MYL2-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MYL2-001
ENSP00000228841
ENST00000228841
P10916 [Direct mapping]
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Q6IB42 [Target identity:100%; Query identity:100%]
MYL2 protein; Myosin, light polypeptide 2, regulatory, cardiac, slow, isoform CRA_a; cDNA, FLJ92288, highly similar to Homo sapiens myosin, light polypeptide 2, regulatory, cardiac, slow (MYL2), mRNA
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Predicted intracellular proteins
Candidate cardiovascular disease genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002026 [regulation of the force of heart contraction]
GO:0003007 [heart morphogenesis]
GO:0003785 [actin monomer binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006942 [regulation of striated muscle contraction]
GO:0007507 [heart development]
GO:0008307 [structural constituent of muscle]
GO:0009791 [post-embryonic development]
GO:0015629 [actin cytoskeleton]
GO:0016459 [myosin complex]
GO:0030016 [myofibril]
GO:0030017 [sarcomere]
GO:0030049 [muscle filament sliding]
GO:0030308 [negative regulation of cell growth]
GO:0031672 [A band]
GO:0032036 [myosin heavy chain binding]
GO:0042694 [muscle cell fate specification]
GO:0048747 [muscle fiber development]
GO:0055003 [cardiac myofibril assembly]
GO:0055010 [ventricular cardiac muscle tissue morphogenesis]
GO:0060047 [heart contraction]
GO:0060048 [cardiac muscle contraction]
GO:0098735 [positive regulation of the force of heart contraction]
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 166 aa
18.8 kDa 		No 0
MYL2-006
ENSP00000447154
ENST00000548438
G3V1V8 [Direct mapping]
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform; Myosin, light polypeptide 2, regulatory, cardiac, slow, isoform CRA_b
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005509 [calcium ion binding]
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 152 aa
17.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.