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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYL3 Gene

protein-coding GIFtS: 69
GCID: GC03M046899

myosin, light chain 3, alkali; ventricular, skeletal, slow

(Previous names: myosin, light polypeptide 3, alkali; ventricular, skeletal,...)

Explore 11 diseases affiliated with
MYL3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myosin, Light Chain 3, Alkali; Ventricular, Skeletal, Slow¹ ²		Cardiac Myosin Light Chain 1² ³
MLC1SB¹ ² ³		Myosin Light Chain 1, Slow-Twitch Muscle B/Ventricular Isoform² ³
CMH8¹ ² ⁵		Ventricular/Slow Twitch Myosin Alkali Light Chain² ³
MLC1V¹ ²		CMLC1² ³
VLC1¹ ²		Myosin Light Chain 3²
Myosin, Light Polypeptide 3, Alkali; Ventricular, Skeletal, Slow¹ ²

External Ids:	HGNC: 7584¹	Entrez Gene: 4634²	Ensembl: ENSG00000160808⁷	OMIM: 160790⁵	UniProtKB: P08590³

Export aliases for MYL3 gene to outside databases

Previous GC identifers: GC03P046253 GC03P046130 GC03M046696 GC03M046859 GC03M046874

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYL3:

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular

isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left

ventricular chamber type hypertrophic cardiomyopathy. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590

Function: Regulatory light chain of myosin. Does not bind calcium

summary for MYL3:

Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding

and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),

almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain

that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts

with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory

myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.

Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is

involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a

contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by

intracellular Ca2+ concentrations.

Gene Wiki entry for MYL3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYL3 gene promoter:
CREB PPAR-gamma1 p53 deltaCREB PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYL3 promoter sequence

Search SABiosciences Chromatin IP Primers for MYL3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYL3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3-p21.2 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p

MYL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYL3 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M046899: view genomic region (about GC identifiers)

Start:	46,899,357 bp from pter	End:	46,923,659 bp from pter
Size:	24,303 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590 (See protein sequence)

Recommended Name: Myosin light chain 3

Size: 195 amino acids; 21932 Da

Subunit: Myosin is a hexamer of 2 heavy chains and 4 light chains

Secondary accessions: B2R534 Q9NRS8

Explore the universe of human proteins at neXtProt for MYL3: NX_P08590

Post-translational modifications:

The N-terminus is blocked¹

N-terminus is methylated by METTL11A/NTM1 (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08590

MYL3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000249.1

ENSEMBL proteins:

ENSP00000379210 ENSP00000292327 ENSP00000393455

Reactome Protein details: P08590
Human Recombinant Protein Products:

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	Novus Biologicals MYL3 Proteins Novus Biologicals MYL3 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MYL3

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005859	muscle myosin complex	TAS	2789520
GO:0016459	myosin complex	--	--
GO:0030017	sarcomere	TAS	16754800
GO:0031672	A band	IDA	16675844

MYL3 for ontologies About GeneDecksing

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	ThermoFisher Antibody for MYL3

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MYL3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MYL3 for domains About GeneDecksing

2 InterPro domains/families:

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

Graphical View of Domain Structure for InterPro Entry P08590

ProtoNet protein and cluster: P08590

UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590

Similarity: Contains 3 EF-hand domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590

Function: Regulatory light chain of myosin. Does not bind calcium

Genatlas biochemistry entry for MYL3:

myosin,light polypeptide 3,alkali,essential,ventricular,skeletal,slow,same as MLC1-SB & MLC1-V

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYL3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MYL3:
		hsa-miR-664
		SwitchGear 3'UTR luciferase reporter plasmid: MYL3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYL3 (see all 7) OriGene shRNA RFP: MYL3 OriGene siRNA: MYL3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYL3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MYL3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYL3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYL3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MYL3 (NM_000258)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MYL3
		Search LifeMap BioReagents cell lines for MYL3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYL3

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003774	motor activity	IEA	--
GO:0003785	actin monomer binding	IDA	16675844
GO:0005509	calcium ion binding	IEA	--
GO:0008307	structural constituent of muscle	TAS	2789520
GO:0032038	myosin II heavy chain binding	NAS	16675844

MYL3 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Integrin-mediated cell adhesion and migration

	Cell adhesion_Integrin-mediated cell adhesion and migration	1.00			Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases	0.49
	Cell adhesion Integrin-mediated cell adhesion and migration	1.00			Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases	0.49

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

Immune response _CCR3 signaling in eosinophils

	Immune response _CCR3 signaling in eosinophils	1.00			Inhibitory action of Lipoxins on neutrophil migration	0.51
	Immune response CCR3 signaling in eosinophils	1.00

PAK Pathway

	PAK Pathway	1.00			Epithelial Adherens Junctions	0.36
	Antioxidant Action of Vitamin-C	0.56

Striated Muscle Contraction

	Striated Muscle Contraction	1.00			Muscle contraction	0.65
	Striated Muscle Contraction	0.87

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 EMD Millipore Pathways for MYL3 (see all 7)

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cell adhesion Tight junctions
	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Immune response CCR3 signaling in eosinophils

5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYL3 (see all 16)

	Activation of PKA through GPCR
	RhoA Pathway
	PKA Signaling
	Guidance Cues and Growth Cone Motility
	Antioxidant Action of Vitamin-C

5/8 GeneGo (Thomson Reuters) Pathways for MYL3 (see all 8)

	Signal transduction Activation of PKC via G-Protein coupled receptor
	Cell adhesion Integrin-mediated cell adhesion and migration
	Inhibitory action of Lipoxins on neutrophil migration
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Immune response CCR3 signaling in eosinophils

2 BioSystems Pathways for MYL3

	Regulation of Actin Cytoskeleton
	Striated Muscle Contraction

2 Reactome Pathways for MYL3

	Muscle contraction
	Striated Muscle Contraction

3 Kegg Pathways (Kegg details for MYL3):

	Cardiac muscle contraction
	Hypertrophic cardiomyopathy (HCM)
	Dilated cardiomyopathy

MYL3 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYL3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/126 Interacting proteins for MYL3 (P08590^{2, 3} ENSP00000292327⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 126)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
MYH13	Q9UKX3², ENSP00000252172⁴	MINT-7899812 MINT-7900157 STRING: ENSP00000252172
YWHAZ	P63104², ENSP00000309503⁴	MINT-7899812 MINT-7900157 STRING: ENSP00000309503
MYH9	P35579², ENSP00000216181⁴	MINT-7899812 MINT-7900157 STRING: ENSP00000216181
MYH7	P12883², ENSP00000347507⁴	MINT-7899812 MINT-7900157 STRING: ENSP00000347507

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002026	regulation of the force of heart contraction	IMP	16675844
GO:0006942	regulation of striated muscle contraction	IMP	16675844
GO:0007519	skeletal muscle tissue development	IEA	--
GO:0030049	muscle filament sliding	TAS	--
GO:0032781	positive regulation of ATPase activity	ISS	16675844

MYL3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MYL3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for MYL3 available from Tocris Bioscience About this table

Compound	Action	CAS #
(R)-(+)-Blebbistatin	Selective inhibitor of myosin II. Inactive enantiomer of (�)-blebbistatin (Cat. No. 1760)	--
(S)-(-)-Blebbistatin	Selective inhibitor of myosin II. Active enantiomer of (�)-blebbistatin (Cat. No. 1760)	[856925-71-8]
(�)-Blebbistatin	Selective inhibitor of myosin II	[674289-55-5]

1 HMDB Compound for MYL3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 Novoseek chemical compound relationship for MYL3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
creatinine	31.8	6	15067515 (1), 7866607 (1), 7704948 (1)

Search CenterWatch for drugs/clinical trials and news about MYL3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MYL3 gene:

NM_000258.2

Unigene Cluster for MYL3:

Myosin, light chain 3, alkali; ventricular, skeletal, slow

Hs.517939 [show with all ESTs]

Unigene Representative Sequence: BC009790

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000395869 ENST00000292327(uc003cql.1) ENST00000431168

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYL3
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MYL3:
		hsa-miR-664
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYL3 (see all 7) OriGene shRNA RFP: MYL3 OriGene siRNA: MYL3
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Additional cDNA sequence:

AF174483.1 AK312044.1 BC009790.1 M24122.1 X07373.1

9 DOTS entries:

DT.319748 DT.101985513 DT.101985514 DT.92422207 DT.100814176 DT.92422204 DT.95338064 DT.100814172

DT.92422209

24/425 AceView cDNA sequences (see all 425):

AJ572719 F28209 F27885 AJ572410 BX500406 F30544 AI370949 F25471

C05582 AJ573201 CF552959 C05486 F29960 AA346021 N95175 C05216

AI313433 F28168 F23440 F26941 F31599 C05498 C05527 AJ708945

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for MYL3 About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6a	·	6b	·	6c
SP1:
SP2:
SP3:

ECgene alternative splicing isoforms for MYL3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYL3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

MYL3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Myocardium

Myocardium

Myocardium

Myocardium

Primitive Heart Tube Cells

Myocardium

Epicardium

Mesenchymal Condensate Cells

Bone, Cartilage

Bone

Heart

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Extraembryonic endoderm-like cells (Generation of extrae...)

Cardiomyocyte-like progenitor cells (Derivation of cardio...)

Beating cell clusters (Spontaneous differen...)

See MYL3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYL3

SOURCE GeneReport for Unigene cluster: Hs.517939

SABiosciences Expression via Pathway-Focused PCR Array including MYL3:

Cell Lineage Identification in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYL3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYL3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYL3 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYL3¹	myosin, light chain 3, alkali; ventricular, skeletal, more	75.52(n) 82.81(a)		396067 NM_205159.1 NP_990490.1
lizard (Anolis carolinensis)	Reptilia	MYL3⁶	--	77(a)	1 ↔ 1	GL343449.1(195398-225855)
zebrafish (Danio rerio)	Actinopterygii	zgc66286²	hypothetical protein MGC66286	76.04(n)		393488 AF434191.1
fruit fly (Drosophila melanogaster)	Insecta	Mlc-c³	myosin ATPase	48(a)		5A8 --
worm (Caenorhabditis elegans)	Secernentea	T12D8.6³	EF hand	46(a)		III(13694513-13695376) --
rice (Oryza sativa)	Liliopsida	--	OsCML9 - Calmodulin-related calcium sensor protein...	30(a)	possible ortholog	5(24067532-24068539)

ENSEMBL Gene Tree for MYL3 (if available)
TreeFam Gene Tree for MYL3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MYL3 gene

MYL4² MYL6B² MYL1² MYL6²

10 SIMAP similar genes for MYL3 using alignment to 3 protein entries: MYL3_HUMAN (see all proteins):

MYL6 MYL4 MYL1 MYL6B CALM3 CALML3

CALM1 CALM2 TNNC2 TNNC1

MYL3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893748^1,2	C	pathogenic	85591217(-)	`CTGTCA/GTGGGT`	2	M V	mis¹		0	--	--	--	--
rs104893749^1,2	C	pathogenic	85591233(-)	`GCTTCA/GCCACG`	2	H R	mis¹		0	--	--	--	--
rs139794067^1,2	C	untested	85589915(+)	`TGAAGA/C/GCTTCC`	3	A G V	mis¹		1		NA	4550
rs111617556^1,2	C	untested	85592265(+)	`TCACCC/TGGCAG`	1	--	spa¹		0	--	--	--	--
rs199474709^1,2	C,	untested	85592350(-)	`GTGGGC/TTCAGC`	1	--	int¹		0	--	--	--	--
rs1042973^1,2	C,F,H,	--	46899516(-)	`CGTGGG/AAAGGA`	1	--	ut3¹ trp³		21		EA MN NS NA WA CSA	4006
rs201224325^1,2		--	46899697(+)	`AGCGGA/GTTCAG`	1	--	int¹		0	--	--	--	--
rs200422816^1,2		--	46899716(+)	`GGGTGC/GCTACC`	1	--	int¹		0	--	--	--	--
rs202234617^1,2		--	46899725(+)	`CCTGGA/GCACGA`	1	--	ut3¹		0	--	--	--	--
rs201092907^1,2		--	46899726(+)	`CTGGGC/TACGAG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYL3 (46899357 - 46923659 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MYL3
1 CNV: 3428
Human Gene Mutation Database (HGMD): MYL3

Locus Specific Mutation Databases (LSDB): MYL3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MYL3 for disorders           About GeneDecksing

OMIM gene information: 160790
OMIM disorders: 608751
UniProtKB/Swiss-Prot: MYL3_HUMAN, P08590

Defects in MYL3 are the cause of familial hypertrophic cardiomyopathy type 8 (CMH8) [MIM:608751]. 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. CMH8

inheritance can be autosomal dominant or recessive

11 diseases for MYL3: About MalaCards

hypertrophic cardiomyopathy cardiomyopathy, familial hypertrophic, 8 cardiomyopathy myocardial infarction

acute myocardial infarction congestive heart failure restrictive cardiomyopathy familial hypertrophic cardiomyopathy

dilated cardiomyopathy diabetes mellitus myopathy

1 disease from the University of Copenhagen DISEASES database for MYL3:

Hypertrophic cardiomyopathy

3 Novoseek disease relationships for MYL3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acute myocardial infarction	47.6	3	8254402 (1), 7988046 (1), 7704948 (1)
myocardial infarction	24.9	1	8254402 (1)
renal failure	14.9	1	1507479 (1)

GeneTests: MYL3

Familial Hypertrophic Cardiomyopathy

Genetic Association Database (GAD): MYL3
Human Genome Epidemiology (HuGE) Navigator: MYL3 (15 documents)

Export disorders for MYL3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MYL3 gene, integrated from 9 sources (see all 58):
(articles sorted by number of sources associating them with MYL3)

Utopia: connect your pdf to the dynamic
world of online information

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. (PubMed id 12404107)^{1, 4, 9} Kabaeva Z.T.... Osterziel K.J. (2002)
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)^{1, 4} 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)^{1, 2} 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)^{1, 2} Richard P....Komajda M. (2003)
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. (PubMed id 12021217)^{1, 2} Olson T.M.... Driscoll D.J. (2002)
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)^{1, 2} Poetter K.... Epstein N.D. (1996)
The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)^{1, 2} Kovalyov L.I.... Musalyamov A.K. (1995)
Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene. (PubMed id 1479618)^{1, 3} Shi Q.... Jackowski G. (1992)
Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4). (PubMed id 2784124)^{1, 3} Cohen-Haguenauer O....Frezal J. (1989)
Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. (PubMed id 2789520)^{1, 2} Fodor W.L....Vanin E.F. (1989)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4634	HGNC: 7584	AceView: MYL3	Ensembl:ENSG00000160808	euGenes: HUgn4634
ECgene: MYL3	Kegg: 4634	H-InvDB: MYL3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MYL3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MYL3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYL3

Intellectual Property for MYL3 gene
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Patent Information for MYL3 gene:
Search GeneIP for patents involving MYL3

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MYL3 Gene

myosin, light chain 3, alkali; ventricular, skeletal, slow

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MYL3 Gene

myosin, light chain 3, alkali; ventricular, skeletal, slow

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