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Aliases & Descriptions for MYL2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CMH10 1, 2, 5 | | DKFZp779C0562 2 | | MLC-2 3 | | MLC-2v 3 | | MLC2 2 |
| | | Descriptions |
|---|
| RLC of myosin 2 | | cardiac ventricular myosin light chain 2 2 | | myosin light chain 2 2 | myosin regulatory light chain 2, ventricular/cardiac muscle isoform 2 | | myosin, light chain 2, regulatory, cardiac, slow 2 | | myosin, light polypeptide 2, regulatory, cardiac, slow 1, 2 | | regulatory light chain of myosin 2 | | slow cardiac myosin regulatory light chain 2 2 |
|
| | Search outside databases for aliases for MYL2 genePrevious GC identifers: GC12M110251 GC12M111026 GC12M111131 GC12M109760 |
Summaries for MYL2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for MYL2: 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] Gene Wiki entry for MYL2 |
Genomic Location for MYL2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the MYL2 gene 
Entrez Gene cytogenetic band: 12q24.11 Ensembl cytogenetic band: 12q24.11 HGNC cytogenetic band: 12q24.11MYL2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12M109811:
(about GC identifiers)
Start:
|
109,833,009 bp from pter |
End:
|
109,842,766 bp from pter |
Size:
|
9,758 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000012.10 NT_009775.16
| Proteins for MYL2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: MLRV_HUMAN, P10916 (See
protein sequence)Recommended Name: Myosin regulatory light chain 2, ventricular/cardiac muscle isoform Size: 166 amino acids; 18789 Da
Subunit: Myosin is an hexamer of 2 heavy chains and 4 light chains
Miscellaneous: This chain binds calcium
Secondary accessions: Q16123Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000423.2
ENSEMBL proteins: ENSP00000228841
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: MYL2 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for MYL2: Assays for MYL2: | Protein
Domains/ Families for MYL2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P10916
ProtoNet protein and cluster: P10916 UniProtKB/Swiss-Prot: MLRV_HUMAN, P10916Similarity: Contains 3 EF-hand domains | Gene Function for MYL2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC015821
Applied Biosystems Silencer® siRNAs for MYL2
Sigma-Aldrich siRNA for MYL2  Sigma-Aldrich shRNA for MYL2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000432                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000432                                  untagged cDNA clones in CMV expression vector (see all 2): BC015821 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000432
Genatlas biochemistry entry for MYL2:myosin,light polypeptide 2,regulatory,cardiac,slow11 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Myl2):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for MYL2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/15 Sigma-Aldrich "Your Favorite Gene" Pathways for MYL2 (Your Favorite Gene powered by Ingenuity) (see all 15
) 
5/69 Interacting proteins for MYL2 (ENSP000002288413 P109161, 2) via UniProtKB, MINT, and/or STRING (see all 69
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for MYL2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Compounds for MYL2 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| (±)-Blebbistatin | Selective inhibitor of myosin II | [674289-55-5] | About this table
2 Novoseek chemical compound relationships for MYL2 gene
About this table
|
Transcripts for MYL2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC015821
Sigma-Aldrich siRNA for MYL2  Sigma-Aldrich shRNA for MYL2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000432 REFSEQ mRNAs for MYL2 gene: NM_000432.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000432               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000432                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000432                                  untagged cDNA clones in CMV expression vector (see all 2): BC015821  Additional cDNA sequence: AF020768.1 AK312013.1 BC015821.1 BC031006.1 BC031008.1 BX538165.1 CR456962.1 CR541957.1 M22815.1 S69022.1 X14332.1 X57542.1 X66141.1 23 DOTS entries: DT.450585 DT.100798453 DT.100798459 DT.100798457 DT.102837501 DT.102837503 DT.121215659 DT.75100621 DT.100798451 DT.100659582 DT.121215668 DT.95359103 DT.102837506 DT.102837507 DT.97775874 DT.102837504 DT.102837508 DT.121215675 DT.40133503 DT.92445757 DT.95359069 DT.95359075 DT.95359067 24/587 AceView cDNA sequences (see all 587
):C05566 AA346121 F35611 F28799 BC031006 AA346120 BM724247 C05576 C05403 AJ709626 F20573 C05506 CR541957 AJ709384 C05402 AJ709126 AJ710158 AJ710550 F26807 C05484 AA180217 AJ709651 AI286234 F36271
highest scoring ESTs for MYL2:X66141 AA089616 AA112830 AA176729 AA176746 AA180105 AA180760 AA182946 AA192641 AA196659 Unigene Cluster for MYL2: Myosin, light chain 2, regulatory, cardiac, slow Hs.75535 [show with all ESTs]Unigene Representative Sequence: BF673973
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for MYL2
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | |
| SP1: | |   | |   | - |   | |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for MYL2
1 Ensembl transcript including schematic representation: ENST00000228841
|
Expression for MYL2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| MYL2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for MYL2
1 / 2 / 3 3 probe-sets matching MYL2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTCCAATAAA
SOURCE GeneReport for Unigene cluster: Hs.75535
Expression variation in blood from EXPOLDB for MYL2 |
Orthologs for MYL2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for MYL2 gene from 5/10 species (see all 10
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
MYL21 |
-- |
myosin, light chain 2, regulatory, cardiac, slow |
92.17(n) 97.59(a) |
403614 NM_001003069.1 NP_001003069.1 |
chimpanzee (Pan troglodytes) |
MYL21 |
-- |
myosin, light chain 2, regulatory, cardiac, slow |
91.16(n) 90.36(a) |
452243 XM_509371.2 XP_509371.2 |
cow (Bos taurus) |
MYL21 |
-- |
myosin, light chain 2, regulatory, cardiac, slow |
90.16(n) 95.18(a) |
505519 NM_001035025.1 NP_001030197.1 |
rat (Rattus norvegicus) |
Myl21 |
-- |
myosin, light polypeptide 2, regulatory, cardiac, slow |
81.82(n) 87.88(a) |
363925 NM_001035252.1 NP_001030329.1 |
mouse (Mus musculus) |
Myl21, 5 |
55
|
myosin, light polypeptide 2, regulatory, cardiac, slow1, 5 |
85.14(n)1 95.78(a)1 |
179061 NM_010861.21 NP_034991.21 AF3026885 AK0023675 (see all 8) |
About this table Species with no ortholog for MYL2
ENSEMBL Gene Tree for MYL2 | Paralogs for MYL2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for MYL2 gene
- MYL102 MYLPF2
|
SNPs/Variants for MYL2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for MYL2 (up to first 250kb)
|
Disorders & Mutations for MYL2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 160781 disorders: 608758 608758 UniProtKB/Swiss-Prot: MLRV_HUMAN, P10916
Defects in MYL2 are the cause of cardiomyopathy familial hypertrophic type 10 (CMH10) [MIM:608758]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death Defects in MYL2 are the cause of cardiomyopathy hypertrophic with mid-left ventricular chamber type 2 (MVC2) [MIM:608758]. MVC2 is a very rare variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening3 Novoseek disease relationships for MYL2 gene
About this table
GeneTests: MYL2 Familial Hypertrophic Cardiomyopathy Human Gene Mutation Database: MYL2 Genetic Association Database: MYL2 Human Genome Epidemiology Navigator: MYL2 (5 documents)
|
Medical News for MYL2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for MYL2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/70 PubMed articles for MYL2 gene (see all 70
):- Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PubMed id 12404107)3, 4, 6 Kabaeva Z.T.... Osterziel K.J. (2002)
- Interaction of a conserved peptide domain in recombinant human ventricular myosin light chain-2 with myosin heavy chain. (PubMed id 8287067)1, 3, 4 Wadgaonkar R.... Siddiqui M.A. (1993)
- Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. (PubMed id 9535554)1, 3, 4 Flavigny J....Hainque B. (1998)
- Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)3, 6 Ingles J.... Semsarian C. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. (PubMed id 12707239)3, 4 Richard P....Komajda M. (2003)
- Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. (PubMed id 12818575)3, 4 Moerner S.... Waldenstroem A. (2003)
- Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. (PubMed id 8673105)3, 4 Poetter K.... Epstein N.D. (1996)
- The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)3, 4 Kovalyov L.I.... Musalyamov A.K. (1995)
- Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3. (PubMed id 1386340)2, 3 Macera M.J....Verma R.S. (1992)
|
Search for MYL2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
| | AND | OR |
|
| |
Query String |
|
PubMed
OMIM
NCBI Bookshelf
|
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Genome Databases showing MYL2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing MYL2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MYL2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for MYL2 | Genetics and Cytogenetics in Oncology and Haematology | | Familial hypertrophic cardiomyopathy mutation database | http://www.angis.org.au/Databases/Heart/heartbreak.html | | GeneReviews | http://www.genetests.org/query?gene=MYL2 |
|
| | | About This Section
| --
| Services for MYL2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for MYL2:

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 |  |  |
| | | | Tocris compounds for MYL2 |
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
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