Human Gene MYL2 (ENST00000228841.15_8) from GENCODE V47lift37
  Description: myosin light chain 2 (from RefSeq NM_000432.4)
Gencode Transcript: ENST00000228841.15_8
Gencode Gene: ENSG00000111245.18_10
Transcript (Including UTRs)
   Position: hg19 chr12:111,348,649-111,358,383 Size: 9,735 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr12:111,348,881-111,358,333 Size: 9,453 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:111,348,649-111,358,383)mRNA (may differ from genome)Protein (166 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYL2
Diseases sorted by gene-association score: cardiomyopathy, hypertrophic, 10* (1200), congenital fiber-type disproportion* (124), myl2-related familial hypertrophic cardiomyopathy* (100), cardiomyopathy (15), cardiomyopathy, familial hypertrophic (10), dilated cardiomyopathy (4), intrinsic cardiomyopathy (1), left ventricular noncompaction (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10503.60 RPKM in Heart - Left Ventricle
Total median expression: 16220.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.1050-0.262 Picture PostScript Text
3' UTR -69.20232-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018248 - EF-hand
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF00036 - EF hand
PF13202 - EF hand
PF13405 - EF-hand domain

SCOP Domains:
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on Q6IB42
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding

Biological Process:
GO:0003007 heart morphogenesis
GO:0007507 heart development
GO:0009791 post-embryonic development
GO:0042694 muscle cell fate specification
GO:0048747 muscle fiber development
GO:0055003 cardiac myofibril assembly
GO:0060047 heart contraction
GO:0060048 cardiac muscle contraction
GO:0098735 positive regulation of the force of heart contraction

Cellular Component:
GO:0030016 myofibril


-  Descriptions from all associated GenBank mRNAs
  BC031008 - Homo sapiens myosin, light chain 2, regulatory, cardiac, slow, mRNA (cDNA clone MGC:32751 IMAGE:4297454), complete cds.
X66141 - H.sapiens mRNA for cardiac ventricular myosin light chain-2.
BC015821 - Homo sapiens myosin, light chain 2, regulatory, cardiac, slow, mRNA (cDNA clone MGC:13576 IMAGE:4245364), complete cds.
M22815 - Human (clone PWHCLC2-8) cardiac myosin light chain 2 mRNA, complete cds.
X57542 - H.sapiens ventricular myosin light chain 2 mRNA.
BC031006 - Homo sapiens myosin, light chain 2, regulatory, cardiac, slow, mRNA (cDNA clone MGC:32746 IMAGE:4292208), complete cds.
BX538165 - Homo sapiens mRNA; cDNA DKFZp779C0562 (from clone DKFZp779C0562).
S69022 - Homo sapiens myosin light chain-2 (MLC2) mRNA, complete cds.
JD321815 - Sequence 302839 from Patent EP1572962.
JD099488 - Sequence 80512 from Patent EP1572962.
JD090541 - Sequence 71565 from Patent EP1572962.
AF020768 - Homo sapiens cardiac ventricular myosin light chain 2 mRNA, complete cds.
JD523669 - Sequence 504693 from Patent EP1572962.
DQ892808 - Synthetic construct clone IMAGE:100005438; FLH189927.01X; RZPDo839C0875D myosin, light polypeptide 2, regulatory, cardiac, slow (MYL2) gene, encodes complete protein.
DQ896055 - Synthetic construct Homo sapiens clone IMAGE:100010515; FLH189923.01L; RZPDo839C0865D myosin, light polypeptide 2, regulatory, cardiac, slow (MYL2) gene, encodes complete protein.
X14332 - Human mRNA for ventricular myosin light chain 2.
AK312013 - Homo sapiens cDNA, FLJ92288, highly similar to Homo sapiens myosin, light polypeptide 2, regulatory, cardiac, slow (MYL2), mRNA.
KJ891662 - Synthetic construct Homo sapiens clone ccsbBroadEn_01056 MYL2 gene, encodes complete protein.
KR710332 - Synthetic construct Homo sapiens clone CCSBHm_00011504 MYL2 (MYL2) mRNA, encodes complete protein.
KR710333 - Synthetic construct Homo sapiens clone CCSBHm_00011509 MYL2 (MYL2) mRNA, encodes complete protein.
KR710334 - Synthetic construct Homo sapiens clone CCSBHm_00011511 MYL2 (MYL2) mRNA, encodes complete protein.
KR710335 - Synthetic construct Homo sapiens clone CCSBHm_00011513 MYL2 (MYL2) mRNA, encodes complete protein.
AB590403 - Synthetic construct DNA, clone: pFN21AE1341, Homo sapiens MYL2 gene for myosin, light chain 2, regulatory, cardiac, slow, without stop codon, in Flexi system.
CR541957 - Homo sapiens full open reading frame cDNA clone RZPDo834H0434D for gene MYL2, myosin, light polypeptide 2, regulatory, cardiac, slow; complete cds, without stopcodon.
CR456962 - Homo sapiens full open reading frame cDNA clone RZPDo834B025D for gene MYL2, myosin, light polypeptide 2, regulatory, cardiac, slow; complete cds, incl. stopcodon.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes
h_rhoPathway - Rho cell motility signaling pathway
h_ecmPathway - Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia
h_CCR3Pathway - CCR3 signaling in Eosinophils
h_mCalpainPathway - mCalpain and friends in Cell motility
h_rac1Pathway - Rac 1 cell motility signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000228841.1, ENST00000228841.10, ENST00000228841.11, ENST00000228841.12, ENST00000228841.13, ENST00000228841.14, ENST00000228841.2, ENST00000228841.3, ENST00000228841.4, ENST00000228841.5, ENST00000228841.6, ENST00000228841.7, ENST00000228841.8, ENST00000228841.9, hCG_40212 , MYL2 , NM_000432, Q6IB42, Q6IB42_HUMAN, uc317dov.1, uc317dov.2
UCSC ID: ENST00000228841.15_8
RefSeq Accession: NM_000432.4
Protein: Q6IB42

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MYL2:
hyper-card (Hypertrophic Cardiomyopathy Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.