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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYH14 Gene

protein-coding GIFtS: 63
GCID: GC19P050706

myosin, heavy chain 14, non-muscle

(Previous names: myosin, heavy polypeptide 14, myosin, heavy chain 14 )
(Previous symbol: DFNA4)

Explore 9 diseases affiliated with
MYH14 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, Heavy Chain 14, Non-Muscle¹ ²		Myosin, Heavy Chain 14¹
DFNA4¹ ² ⁵		DFNA4A²
KIAA2034¹ ³ ⁵		NMHC-II-C²
MHC16¹ ²		PNMHH²
MYH17¹ ²		MYH14 Variant Protein²
Myosin, Heavy Polypeptide 14¹ ²		Myosin¹
Myosin Heavy Chain, Non-Muscle IIc² ³		Myosin-14¹
Non-Muscle Myosin Heavy Chain IIc² ³		Nonmuscle Myosin Heavy Chain II-C²
NMHC II-C² ³		Myosin Heavy Chain 14³
FLJ13881¹

External Ids:	HGNC: 23212¹	Entrez Gene: 79784²	Ensembl: ENSG00000105357⁷	OMIM: 608568⁵	UniProtKB: Q7Z406³

Export aliases for MYH14 gene to outside databases

Previous GC identifers: GC19P055451 GC19P055405 GC19P055398 GC19P047045

(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 MYH14:

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it

should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with

diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result

in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have

been found for this gene. (provided by RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406

Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as

secretion and capping (By similarity)

summary for MYH14:

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 MYH14

(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_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYH14 gene promoter:
AhR Sp1 Olf-1 CUTL1 LCR-F1 Arnt
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYH14 promoter sequence

Search SABiosciences Chromatin IP Primers for MYH14

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYH14

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

Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33

MYH14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH14 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P050706: view genomic region (about GC identifiers)

Start:	50,706,885 bp from pter	End:	50,813,802 bp from pter
Size:	106,918 bases	Orientation:	plus 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: MYH14_HUMAN, Q7Z406 (See protein sequence)

Recommended Name: Myosin-14

Size: 1995 amino acids; 227871 Da

Subunit: Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits

(MLC) and 2 regulatory light chain subunits (MLC-2) (By similarity)

Sequence caution: Sequence=AAO39147.1; Type=Frameshift; Positions=1017, 1057; Sequence=AAP34449.1; Type=Erroneous

initiation; Note=Translation N-terminally extended; Sequence=AAP34449.1; Type=Frameshift; Positions=1016, 1057, 1490,

1755; Sequence=BAB14735.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BG468611;

Type=Erroneous termination; Positions=403; Note=Translated as Leu;

1 PDB 3D structure from and Proteopedia for MYH14:

2YCU (3D)

Secondary accessions: B0I1S2 C3TTN4 Q5CZ75 Q6XYE4 Q76B62 Q8WV23 Q96I22 Q9BT27 Q9BW35 Q9H882

Alternative splicing: 5 isoforms: Q7Z406-1 Q7Z406-2 Q7Z406-4 Q7Z406-5 Q7Z406-6

Explore the universe of human proteins at neXtProt for MYH14: NX_Q7Z406

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7Z406

MYH14 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001070654.1 NP_001139281.1 NP_079005.3

ENSEMBL proteins:

ENSP00000406273 ENSP00000366169 ENSP00000407879 ENSP00000262269

Reactome Protein details: Q7Z406
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for MYH14
	GenScript Custom Purified and Recombinant Proteins Services for MYH14
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MYH14

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	--	--
GO:0005737	cytoplasm	--	--
GO:0016459	myosin complex	IEA	--
GO:0030424	axon	--	--
GO:0030426	growth cone	--	--

MYH14 for ontologies About GeneDecksing

MYH14 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of MYH14
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for MYH14
	Browse OriGene Antibodies OriGene Custom Antibody Services for MYH14
	GenScript Custom Superior Antibodies Services for MYH14
	Novus Biologicals MYH14 Antibodies
	Search for Antibodies for MYH14 at Abcam
	Uscn Antibodies for MYH14
	ThermoFisher Antibodies for MYH14

Assay Products for MYH14:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MYH14
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MYH14

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

MYH14 for domains About GeneDecksing

4 InterPro domains/families:

IPR004009 Myosin_N

IPR000048 IQ_motif_EF-hand-BS

IPR002928 Myosin_tail

IPR001609 Myosin_head_motor_dom

Graphical View of Domain Structure for InterPro Entry Q7Z406

ProtoNet protein and cluster: Q7Z406

3 Blocks protein families:

IPB000048 IQ calmodulin-binding region

IPB002928 Myosin tail

IPB004009 Myosin N-terminal SH3-like domain

UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406

Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4

heptapeptides, characteristic for alpha-helical coiled coils (By similarity)

Similarity: Contains 1 IQ domain

Similarity: Contains 1 myosin head-like domain

(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: MYH14_HUMAN, Q7Z406

Function: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as

secretion and capping (By similarity)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): MYH14 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH14
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate MYH14:
		hsa-miR-4254 hsa-miR-1321 hsa-miR-625 hsa-miR-30b*
		SwitchGear 3'UTR luciferase reporter plasmid: MYH14 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 MYH14 (see all 7) OriGene shRNA RFP: MYH14 OriGene siRNA: MYH14
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH14

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MYH14

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 MYH14 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYH14 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): MYH14 (NM_024729)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH14
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MYH14

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MYH14
		Search LifeMap BioReagents cell lines for MYH14

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH14

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000146	microfilament motor activity	--	--
GO:0003774	motor activity	IEA	--
GO:0003779	actin binding	IEA	--
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IEA	--

MYH14 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Myh14^tm1Rsad for MYH14
     8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Myh14):

cardiovascular system	cellular	mortality/aging	muscle	nervous system
normal	respiratory system	tumorigenesis

MYH14 for phenotypes 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 - 5/17 super-pathways (see all 17) 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

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

Sema4D in semaphorin signaling

	Sema4D in semaphorin signaling	1.00			Semaphorin interactions	0.44
	Sema4D induced cell migration and growth-cone collapse	0.83

Axon guidance

Axon guidance

1.00

Developmental Biology

0.69

Pathway sources
See GeneCards unified pathways
Show all pathways

5 EMD Millipore Pathways for MYH14

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cell adhesion Tight junctions
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Immune response CCR3 signaling in eosinophils
	Development MAG-dependent inhibition of neurite outgrowth

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYH14 (see all 11)

	RhoA Pathway
	Antioxidant Action of Vitamin-C
	Transendothelial Migration of Leukocytes
	Actin Nucleation by ARP-WASP Complex
	Epithelial Adherens Junctions

1 Cell Signaling Technology (CST) Pathway for MYH14

Cytoskeletal Signaling

5/6 GeneGo (Thomson Reuters) Pathways for MYH14 (see all 6)

	Cell adhesion Integrin-mediated cell adhesion and migration
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Inhibitory action of Lipoxins on neutrophil migration
	Immune response CCR3 signaling in eosinophils
	Cell adhesion Tight junctions

5 Reactome Pathways for MYH14

	Developmental Biology
	Sema4D induced cell migration and growth-cone collapse
	Semaphorin interactions
	Sema4D in semaphorin signaling
	Axon guidance

3 Kegg Pathways (Kegg details for MYH14):

	Tight junction
	Regulation of actin cytoskeleton
	Viral myocarditis

MYH14 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MYH14

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/26 Interacting proteins for MYH14 (Q7Z406^{2, 3} ENSP00000407879⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GFI1B	Q5VTD9²^,³, ENSP00000344782⁴	MINT-2876387 I2D: score=3 STRING: ENSP00000344782
CHUK	O15111²^,³, ENSP00000359424⁴	MINT-48055 I2D: score=2 STRING: ENSP00000359424
TRPM6	Q9BX84²^,³, ENSP00000354006⁴	MINT-6699445 I2D: score=1 STRING: ENSP00000354006
TRPM7	Q96QT4²^,³, ENSP00000320239⁴	MINT-6699418 I2D: score=1 STRING: ENSP00000320239
ESR2	Q92731³, ENSP00000343925⁴	I2D: score=1 STRING: ENSP00000343925

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007411	axon guidance	TAS	--
GO:0008360	regulation of cell shape	IEA	--
GO:0030048	actin filament-based movement	--	--

MYH14 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

EMD Millipore small molecules for MYH14:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for MYH14 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]

9 DrugBank Compounds for MYH14 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	17139284 17016423 10592235
Mant-Adp	--	--	target	--	17139284 17016423 10592235
Pyrophosphate 2-	--	--	target	--	17139284 17016423 10592235
Tetrafluoroaluminate Ion	--	--	target	--	17139284 17016423 10592235
(3aS)-3a-hydroxy-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one	--	--	target	--	10592235
(3aS)-3a-hydroxy-5-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one	--	--	target	--	10592235
(3aS)-3a-hydroxy-7-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one	--	--	target	--	10592235
(S)-blebbistatin	--	--	target	--	10592235
N-METHYL O-NITROPHENYL AMINOETHYLDIPHOSPHATE BERYLLIUM TRIFLUORIDE	--	--	target	--	10592235

Search CenterWatch for drugs/clinical trials and news about MYH14

(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 MYH14 gene (3 alternative transcripts):

NM_001077186.1 NM_001145809.1 NM_024729.3

Unigene Cluster for MYH14:

Myosin, heavy chain 14, non-muscle

Hs.467142 [show with all ESTs]

Unigene Representative Sequence: NM_001145809

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

ENST00000440075 ENST00000376970(uc010enu.1) ENST00000425460(uc002prq.1 uc002prr.1)

ENST00000262269(uc010ycb.2 uc002prs.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): MYH14 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYH14
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate MYH14:
		hsa-miR-4254 hsa-miR-1321 hsa-miR-625 hsa-miR-30b*
		SwitchGear 3'UTR luciferase reporter plasmid: MYH14 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 MYH14 (see all 7) OriGene shRNA RFP: MYH14 OriGene siRNA: MYH14
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MYH14

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYH14 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYH14 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): MYH14 (NM_024729)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYH14
		Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MYH14

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MYH14
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYH14
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYH14

Additional cDNA sequence:

AB111886.1 AB290169.1 AK023943.1 AK091982.1 AK125082.1 AK303704.1 AK307783.1 AY165122.1

AY203926.1 BC000676.2 BC004396.1 BC007877.2 BC018933.2 BC129803.1 CR936653.1 FJ041910.1

L29142.1

12 DOTS entries:

DT.91860099 DT.100780806 DT.412295 DT.75130529 DT.95172509 DT.100780805 DT.91705791 DT.65284685

DT.100028501 DT.121484492 DT.92033457 DT.97768409

24/136 AceView cDNA sequences (see all 136):

AB111886 CA438424 AU141917 D45581 BC004396 AI471201 BM696629 CB141898

BU185828 BF346363 AI720993 BU543194 AA402720 BU171238 BC007877 AW084124

BM704311 BQ687950 BE858141 BU538826 BQ582082 BU185920 BF828587 AW081820

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for MYH14 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23a	·	23b	^	24	^
SP1:
SP2:																															-
SP3:
SP4:

ExUns:	25	^	26	^	27	^	28	^	29a	·	29b	^	30	^	31	^	32a	·	32b	·	32c	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41
SP1:																	-
SP2:
SP3:											-		-		-		-		-
SP4:

ECgene alternative splicing isoforms for MYH14

(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

MYH14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTGCCCTC

About this image

MYH14 expression in embryonic tissues and stem cells

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

10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Forelimb Dorsal Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Mononuclear Myocytes

Skeletal Muscle

Thoracic Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Hypaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Primary Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Primary Hypaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Lumbar Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MYH14 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYH14

SOURCE GeneReport for Unigene cluster: Hs.467142

UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406

Tissue specificity: High levels of expression are found in brain (highest in corpus callosum), heart, kidney, liver,

lung, small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such

as aorta, uterus and urinary bladder. No detectable expression is found in thymus, spleen, placenta and lymphocytes

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(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 animals.

Orthologs for MYH14 gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	MYH14⁶	--	70(a)	1 ↔ 1	GL343279.1(807270-862005)
zebrafish (Danio rerio)	Actinopterygii	myh10¹	myosin, heavy chain 10, non-muscle	62.49(n) 64.19(a)		563011 XM_686375.4 XP_691467.4
fruit fly (Drosophila melanogaster)	Insecta	zip⁶	zipper	54(a)	1 → many	2R(20878093-20899488)
worm (Caenorhabditis elegans)	Secernentea	nmy-1⁶ nmy-2⁶	Non-muscle MYosin family member (nmy-2)	47(a) 43(a)	possible ortholog possible ortholog	X(2909546-2918027) I(7926618-7934572)

ENSEMBL Gene Tree for MYH14 (if available)
TreeFam Gene Tree for MYH14 (if available)

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

Paralogs for MYH14 gene

MYH8² MYH1² MYH2² MYH11² MYH9² MYH13² MYH10² MYH7B²

MYH4² MYH3² MYH15² MYH6² MYH7²

18/29 SIMAP similar genes for MYH14 using alignment to 5 protein entries: MYH14_HUMAN (see all proteins) (see all similar genes):

MYH9 MYH11 MYH10 FLJ00279 MYO1E MYH2

MYO18A MYH1 MYH7 MYO1G MYH8 MYH4

MYH13 MYO5B MYH7B MYH6 MYO5C MYH3

MYH14 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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs119103280^1,2	C,F,	pathogenic	50747534(+)	`AGTTTG/TGCAAC`	6	G C	mis¹		1		EU	569
rs113993956^1,2	C	untested	50771512(+)	`AGCCCA/G/TCAAGC`	9	H R L	mis¹		0	--	--	--	--
rs11879433^1,2	H	--	47067680(+)	`ggactC/Tttgag`	1	--	int¹		0	--	--	--	--
rs147824673^1,2		--	50704899(+)	`CCTCCC/GGAAAA`	3	--	us2k¹		0	--	--	--	--
rs141382906^1,2		--	50705055(+)	`GAGGCA/GTGAGC`	3	--	us2k¹		0	--	--	--	--
rs146981104^1,2		--	50705075(+)	`TGGCCA/GGTACT`	3	--	us2k¹		0	--	--	--	--
rs78211101^1,2	F,	--	50705084(+)	`CTTTCT/CTATTC`	3	--	us2k¹		1		WA	118
rs188403890^1,2		--	50705209(+)	`ACTGTG/TTGCCA`	3	--	us2k¹		0	--	--	--	--
rs138234620^1,2		--	50705229(+)	`GATTCC/GGCACT`	3	--	us2k¹		0	--	--	--	--
rs181258352^1,2		--	50705264(+)	`CGTGGC/GACTTA`	3	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYH14 (50706885 - 50813802 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MYH14
1 CNV: 8874
1 Indel: 26316
Human Gene Mutation Database (HGMD): MYH14

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

MYH14 for disorders           About GeneDecksing

OMIM gene information: 608568
OMIM disorders: 600652
UniProtKB/Swiss-Prot: MYH14_HUMAN, Q7Z406

Defects in MYH14 are the cause of deafness autosomal dominant type 4A (DFNA4A) [MIM:600652]. A form of

sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the

nerve pathways to the brain, or the area of the brain that receives sound information

Defects in MYH14 are the cause of peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)

[MIM:614369]. PNMHH is a complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset

of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years,

followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and

the muscle weakness first affects anterior leg muscles and later posterior leg muscles

9 diseases for MYH14: About MalaCards

cleft palate cleft lip hearing loss peripheral neuropathy

hepatocellular carcinoma myopathy neuropathy ataxia

carcinoma

1 disease from the University of Copenhagen DISEASES database for MYH14:

Nonsyndromic deafness

Human Genome Epidemiology (HuGE) Navigator: MYH14 (8 documents)

Export disorders for MYH14 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 MYH14 gene, integrated from 9 sources (see all 45):
(articles sorted by number of sources associating them with MYH14)

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

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). (PubMed id 15015131)^{1, 2, 3} Donaudy F.... Savoia A. (2004)
A novel myosin heavy chain gene in human chromosome 19q13.3. (PubMed id 12909352)^{1, 2, 3} Leal A.... Rautenstrauss B. (2003)
Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. (PubMed id 14594953)^{1, 2, 9} Golomb E.... Adelstein R.S. (2004)
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. (PubMed id 21480433)^{1, 2} Choi B.O.... Chung K.W. (2011)
An Alternatively Spliced Isoform of Non-muscle Myosin II-C Is Not Regulated by Myosin Light Chain Phosphorylation. (PubMed id 19240025)^{1, 2} Jana S.S....Adelstein R.S. (2009)
Divergent evolution of the myosin heavy chain gene fa mily in fish and tetrapods: evidence from comparative genomic analysis. (PubMed id 17940200)^{1, 3} Ikeda D....Watabe S. (2007)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)^{1, 2} Wan D....Gu J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family. (PubMed id 11919279)^{1, 2} Desjardins P.R....Stedman H.H. (2002)

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

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

Entrez Gene: 79784	HGNC: 23212	AceView: MYH14	Ensembl:ENSG00000105357	euGenes: HUgn79784
ECgene: MYH14	Kegg: 79784	H-InvDB: MYH14

(According to HUGE)
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HUGE: KIAA2034

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MYH14	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYH14 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MYH14 gene:
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GeneCards and IP:
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MYH14 Gene

myosin, heavy chain 14, non-muscle

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MYH14 (Gene Symbol)
Myosin, Heavy Chain 14, Non-Muscle
DFNA4
KIAA2034
MHC16
MYH17
Myosin, Heavy Polypeptide 14
Myosin Heavy Chain, Non-Muscle IIc
Non-Muscle Myosin Heavy Chain IIc
NMHC II-C
FLJ13881
Myosin, Heavy Chain 14
DFNA4A
NMHC-II-C
PNMHH
MYH14 Variant Protein
Myosin
Myosin-14
Nonmuscle Myosin Heavy Chain II-C
Myosin Heavy Chain 14

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MYH14 Gene

myosin, heavy chain 14, non-muscle

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