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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... See more...
Aliases for MYH14 Gene
Aliases for MYH14 Gene
External Ids for MYH14 Gene
- HGNC: 23212
- Entrez Gene: 79784
- Ensembl: ENSG00000105357
- OMIM: 608568
- UniProtKB: Q7Z406
Previous HGNC Symbols for MYH14 Gene
- DFNA4
Previous GeneCards Identifiers for MYH14 Gene
- GC19P055451
- GC19P055405
- GC19P055398
- GC19P050706
- GC19P047045
Summaries for MYH14 Gene
-
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]
GeneCards Summary for MYH14 Gene
MYH14 (Myosin Heavy Chain 14) is a Protein Coding gene. Diseases associated with MYH14 include Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss and Deafness, Autosomal Dominant 4A. Among its related pathways are Signaling by GPCR and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYH10.
UniProtKB/Swiss-Prot Summary for MYH14 Gene
-
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
-
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.
Additional gene information for MYH14 Gene
- HGNC(23212)
- Entrez Gene(79784)
- Ensembl(ENSG00000105357)
- OMIM(608568)
- UniProtKB(Q7Z406)
- Open Targets Platform(ENSG00000105357)
- Monarch Initiative
- Search for MYH14 at DataMed
- Search for MYH14 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYH14 Gene
Genomics for MYH14 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MYH14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MYH14 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYH14
- Top Transcription factor binding sites by QIAGEN in the MYH14 gene promoter:
-
- AhR
- Arnt
- CUTL1
- LCR-F1
- Olf-1
- Sp1
Genomic Locations for MYH14 Gene
Genomic Locations for MYH14 Gene
- chr19:50,188,186-50,310,544
- (GRCh38/hg38)
- Size:
- 122,359 bases
- Orientation:
- Plus strand
- chr19:50,691,443-50,813,802
- (GRCh37/hg19)
- Size:
- 122,360 bases
- Orientation:
- Plus strand
Genomic View for MYH14 Gene
Genes around MYH14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
MYH14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MYH14 Gene
Proteins for MYH14 Gene
-
Protein details for MYH14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z406-MYH14_HUMAN
- Recommended name:
- Myosin-14
- Protein Accession:
- Q7Z406
- B0I1S2
- C3TTN4
- Q5CZ75
- Q6XYE4
- Q76B62
- Q8WV23
- Q96I22
- Q9BT27
- Q9BW35
- Q9H882
Protein attributes for MYH14 Gene
- Size:
- 1995 amino acids
- Molecular mass:
- 227871 Da
- Quaternary structure:
-
- 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).
- SequenceCaution:
-
- Sequence=AAO39147.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAP34449.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAP34449.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB14735.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BG468611; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
Protein Expression for MYH14 Gene
Post-translational modifications for MYH14 Gene
Other Protein References for MYH14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences MYH14 Antibody (LS-B9846) and MYH14 Antibody (LS-B12933)
- G Biosciences Immunotag™ MYH14 Antibody
-
Custom Antibody ServicesOriGene Antibodies for MYH14
- Novus Biologicals Antibodies for MYH14
-
Abcam antibodies for MYH14
- Invitrogen Antibodies for MYH14 (AFLGC-MYH14)
- antibodies-online: Show 958 available Myosin Antibodies ranked by validation data
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MYH14
- Origene Custom Protein Services for MYH14
- Novus Biologicals proteins for MYH14
No data available for DME Specific Peptides for MYH14 Gene
Domains & Families for MYH14 Gene
Gene Families for MYH14 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for MYH14 Gene
- InterPro:
- Blocks:
-
- IQ calmodulin-binding region
- Myosin tail
- Myosin N-terminal SH3-like domain
- ProtoNet:
Suggested Antigen Peptide Sequences for MYH14 Gene
- GenScript: Design optimal peptide antigens:
-
- MYH14 protein (A1L2Z2_HUMAN)
- Nonmuscle myosin heavy chain II-C variant (C3TTN4_HUMAN)
- Non-muscle myosin heavy chain IIc (MYH14_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q7Z406UniProtKB/Swiss-Prot:
MYH14_HUMAN :- 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.
- Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
- 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.
- Family:
-
- Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Function for MYH14 Gene
Molecular function for MYH14 Gene
- UniProtKB/Swiss-Prot Function:
- Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
Phenotypes From GWAS Catalog for MYH14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000146 | microfilament motor activity | IEA | -- |
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003774 | motor activity | IEA | -- |
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for MYH14 Gene
- MGI mutant phenotypes for MYH14:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for MYH14:
Animal Models for MYH14 Gene
- MGI Knock Outs for MYH14:
-
- Myh14 Myh14<tm1Rsad>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MYH14 - Select products 50% OFF >
- * MYH14 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MYH14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYH14
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYH14
miRNA for MYH14 Gene
- miRTarBase miRNAs that target MYH14
-
- hsa-miR-877-3p (MIRT037141)
- hsa-miR-615-3p (MIRT040265)
- hsa-miR-193b-3p (MIRT041383)
- hsa-miR-412-3p (MIRT440166)
- hsa-miR-6883-5p (MIRT451008)
- hsa-miR-6785-5p (MIRT451009)
- hsa-miR-149-3p (MIRT451010)
- hsa-miR-4728-5p (MIRT451011)
- hsa-miR-8085 (MIRT451012)
- hsa-miR-6731-5p (MIRT451013)
- hsa-miR-6797-5p (MIRT451014)
- hsa-miR-1249-5p (MIRT451015)
- hsa-miR-4306 (MIRT451016)
- hsa-miR-4644 (MIRT451017)
- hsa-miR-185-5p (MIRT451018)
- hsa-miR-6133 (MIRT451019)
- hsa-miR-6130 (MIRT451020)
- hsa-miR-6129 (MIRT451021)
- hsa-miR-6127 (MIRT451022)
- hsa-miR-4510 (MIRT451023)
- hsa-miR-4419a (MIRT451024)
- hsa-miR-4756-5p (MIRT451025)
- hsa-miR-4739 (MIRT451026)
- hsa-miR-1321 (MIRT451027)
- hsa-miR-6873-5p (MIRT451028)
- hsa-miR-6760-5p (MIRT451029)
- hsa-miR-4428 (MIRT482638)
- hsa-miR-5196-5p (MIRT498513)
- hsa-miR-4747-5p (MIRT498514)
- hsa-miR-4533 (MIRT498515)
- hsa-miR-9500 (MIRT498516)
- hsa-miR-1275 (MIRT736926)
- hsa-miR-2467-3p (MIRT739278)
- hsa-miR-3127-5p (MIRT740061)
- hsa-miR-363-5p (MIRT741833)
- hsa-miR-4271 (MIRT743627)
- hsa-miR-4506 (MIRT745549)
- hsa-miR-4525 (MIRT745915)
- hsa-miR-4651 (MIRT746562)
- hsa-miR-4665-5p (MIRT746764)
- hsa-miR-4693-3p (MIRT747147)
- hsa-miR-4723-5p (MIRT747658)
- hsa-miR-4725-3p (MIRT747708)
- hsa-miR-5000-5p (MIRT749338)
- hsa-miR-5010-5p (MIRT749497)
- hsa-miR-5192 (MIRT749946)
- hsa-miR-5680 (MIRT751134)
- hsa-miR-5698 (MIRT751291)
- hsa-miR-608 (MIRT751999)
- hsa-miR-625-5p (MIRT752596)
- hsa-miR-6716-5p (MIRT753723)
- hsa-miR-6745 (MIRT754460)
- hsa-miR-6780b-5p (MIRT755639)
- hsa-miR-6782-5p (MIRT755706)
- hsa-miR-6798-5p (MIRT756263)
- hsa-miR-6870-5p (MIRT757991)
- hsa-miR-7111-5p (MIRT759048)
- hsa-miR-8071 (MIRT760096)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYH14
- Browse OriGene Inhibitory RNA Products For MYH14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH14
Clone Products
- Applied Biological Materials (abm): Clones for MYH14 - Select products 50% OFF >
- * MYH14 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MYH14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYH14
Cell Line Products
-
Horizon Cell Lines for MYH14
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYH14 Gene
Localization for MYH14 Gene
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| extracellular | 4 |
| nucleus | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001725 | stress fiber | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005903 | brush border | IEA | -- |
| GO:0016020 | membrane | HDA | 19946888 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYH14 Gene
Pathways & Interactions for MYH14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Semaphorin interactions | ||
| 2 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases |
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
|
Development MAG-dependent inhibition of neurite outgrowth
.42
Cell adhesion Tight junctions
.32
|
| 3 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
| 4 | Actin Nucleation by ARP-WASP Complex |
Actin Nucleation by ARP-WASP Complex
.66
|
RhoA Pathway
.35
|
| 5 | RhoGDI Pathway |
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
|
RhoGDI Pathway
.33
|
Pathways by source for MYH14 Gene
14 Reactome pathways for MYH14 Gene
5 KEGG pathways for MYH14 Gene
6 GeneGo (Thomson Reuters) pathways for MYH14 Gene
- Cell adhesion Integrin-mediated cell adhesion and migration
- Cell adhesion Tight junctions
- Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
- Development MAG-dependent inhibition of neurite outgrowth
- Immune response CCR3 signaling in eosinophils
11 Qiagen pathways for MYH14 Gene
- Actin Nucleation by ARP-WASP Complex
- Antioxidant Action of Vitamin-C
- Cellular Effects of Sildenafil
- Epithelial Adherens Junctions
- Epithelial Tight Junctions
1 Cell Signaling Technology pathway for MYH14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003009 | skeletal muscle contraction | IMP | 21480433 |
| GO:0007519 | skeletal muscle tissue development | IMP | 21480433 |
| GO:0007605 | sensory perception of sound | IMP | 21480433 |
| GO:0008360 | regulation of cell shape | IEA | -- |
| GO:0019228 | neuronal action potential | IMP | 21480433 |
No data available for SIGNOR curated interactions for MYH14 Gene
Drugs & Compounds for MYH14 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| (3aS)-3a-hydroxy-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one | Experimental | Pharma | Target | 0 | ||
| (3aS)-3a-hydroxy-5-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one | Experimental | Pharma | Target | 0 | ||
| (3aS)-3a-hydroxy-7-methyl-1-phenyl-1,2,3,3a-tetrahydro-4H-pyrrolo[2,3-b]quinolin-4-one | Experimental | Pharma | Target | 0 | ||
| (S)-blebbistatin | Experimental | Pharma | Target | 0 | ||
| Mant-Adp | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (+-)-Blebbistatin |
|
674289-55-5 |
|
|
||
| (S)-(-)-Blebbistatin |
|
856925-71-8 |
|
|
(4) Tocris Compounds for MYH14 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (+-)-Blebbistatin | Selective inhibitor of myosin II ATPase activity | 674289-55-5 |
| (R)-(+)-Blebbistatin | Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) | 1177356-70-5 |
| (S)-(-)-Blebbistatin | Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) | 856925-71-8 |
| BTS | Selective inhibitor of skeletal muscle myosin II ATPase activity | 1576-37-0 |
(3) ApexBio Compounds for MYH14 Gene
| Compound | Action | Cas Number |
|---|---|---|
| (±)-Blebbistatin | non-muscle myosin II ATPases inhibitor, cell-permeable | 674289-55-5 |
| (R)-(+)-Blebbistatin | non-muscle myosin II ATPases inhibitor, cell-permeable | 1177356-70-5 |
| BTS | 1576-37-0 |
Transcripts for MYH14 Gene
mRNA/cDNA for MYH14 Gene
- 3 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262269 3848 nts (view in UCSC)
- ENST00000376970 6787 nts (view in UCSC)
- ENST00000425460 6811 nts (view in UCSC)
- ENST00000440075 4247 nts (view in UCSC)
- ENST00000595016 4039 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MYH14 - Select products 50% OFF >
- * MYH14 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MYH14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYH14
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYH14
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYH14
- Browse OriGene Inhibitory RNA Products For MYH14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH14
Clone Products
- Applied Biological Materials (abm): Clones for MYH14 - Select products 50% OFF >
- * MYH14 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MYH14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYH14
| 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: |
Relevant External Links for MYH14 Gene
- GeneLoc Exon Structure for
- MYH14
Expression for MYH14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Mononuclear Myocytes Sacral Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Primary Epaxial Myotome
-
Somite (Muscoskeletal System)
- Mononuclear Myocytes Sacral Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Hypaxial Myotome
- Mononuclear Myocytes Thoracic Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Primary Epaxial Myotome
- Mononuclear Myocytes Cervical Epaxial Myotome
-
Limb (Muscoskeletal System)
- Mononuclear Myocytes Hindlimb Ventral Muscle
- Mononuclear Myocytes Forelimb Dorsal Muscles
- Mononuclear Myocytes Hindlimb Dorsal Muscle
- Mononuclear Myocytes Forelimb Ventral Muscles
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Gut Tube (Gastrointestinal Tract)
- Lung (Respiratory System)
-
Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for MYH14 Gene
This gene is overexpressed in Muscle - Skeletal (x8.4) and Colon - Transverse (x4.2).
This gene is overexpressed in Cervix (18.1), Nasal epithelium (15.1), Bone marrow mesenchymal stem cell (7.8), and Fetal gut (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYH14 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYH14
SOURCE GeneReport for Unigene cluster for MYH14 Gene:
Hs.467142mRNA Expression by UniProt/SwissProt for MYH14 Gene:
Q7Z406-MYH14_HUMAN
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.
Evidence on tissue expression from TISSUES for MYH14 Gene
- Lung(5)
- Muscle(4.8)
- Intestine(4.7)
- Liver(4.7)
- Nervous system(4.5)
- Thyroid gland(4.5)
- Lymph node(4)
- Heart(4)
- Pancreas(3.2)
- Gall bladder(3.2)
- Kidney(3)
- Skin(2.6)
- Eye(2.5)
- Blood(2.3)
- Stomach(2.1)
- Adrenal gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH14 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- head
- inner ear
- larynx
- middle ear
- neck
- outer ear
- vocal cord
Thorax:
- heart
- heart valve
Abdomen:
- kidney
Limb:
- foot
- forearm
- lower limb
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for MYH14
Gene Expression Assay Products
Orthologs for MYH14 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MYH14 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MYH14 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MYH14 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Myh14 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Myh14 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | MYH14 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | myh14 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | zip 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | nmy-1 31 |
|
ManyToMany | |
| nmy-2 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MYO1 31 |
|
OneToMany |
- Species where no ortholog for MYH14 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for MYH14 Gene
- ENSEMBL:
- Gene Tree for MYH14 (if available)
- TreeFam:
- Gene Tree for MYH14 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MYH14: view image
Paralogs for MYH14 Gene
Paralogs for MYH14 Gene
- MYH10 5
- MYH9 5
- MYH11 5
- MYH7B 5
- MYH2 5
- MYH6 5
- MYH7 5
- MYH13 5
- MYH1 5
- MYH8 5
- MYH4 5
- MYH3 5
- MYO18A 5
- MYO5B 5
- MYO5A 5
- MYO7A 5
- MYO5C 5
- MYO7B 5
- MYO10 5
- MYO9A 5
- MYH15 5
- MYO15A 5
- MYO9B 5
- MYO18B 5
- MYO1E 5
- MYO3A 5
- MYO1B 5
- MYO6 5
- MYO1C 5
- MYO1G 5
- MYO1A 5
- MYO1F 5
- MYO1D 5
- CGNL1 5
- MYO3B 5
- MYO1H 5
- MYO16 5
- CGN 5
- TMF1 5
- MYO19 5
- CCDC158 5
- CCDC102A 5
- CCDC102B 5
- ENSG00000266997 5
(31) SIMAP similar genes for MYH14 Gene using alignment to 5 proteins:
- MYH14_HUMAN
- A1L2Z2_HUMAN
- F2Z2U8_HUMAN
- G8JLL9_HUMAN
- M0QY43_HUMAN
Variants for MYH14 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYH14 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636304 | Uncertain Significance: Charcot-Marie-Tooth disease | 50,276,037(+) | C/T | MISSENSE_VARIANT | |
| 637025 | Uncertain Significance: Deafness, autosomal dominant 4 | 50,226,943(+) | T/C | MISSENSE_VARIANT | |
| 638051 | Uncertain Significance: Deafness, autosomal dominant 4 | 50,268,227(+) | G/A | MISSENSE_VARIANT | |
| 666608 | Uncertain Significance: not specified | 50,309,737(+) | G/A | MISSENSE_VARIANT | |
| 666718 | Likely Benign: not specified | 50,255,268(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1797n106 | CNV | deletion | 24896259 |
| esv1752526 | CNV | deletion | 17803354 |
| esv2664956 | CNV | deletion | 23128226 |
| esv2667501 | CNV | deletion | 23128226 |
| esv2718727 | CNV | deletion | 23290073 |
| esv2718728 | CNV | deletion | 23290073 |
| esv2718730 | CNV | deletion | 23290073 |
| esv2718731 | CNV | deletion | 23290073 |
| esv2751796 | CNV | gain | 17911159 |
| esv3346691 | CNV | insertion | 20981092 |
| esv3583458 | CNV | loss | 25503493 |
| esv3583459 | CNV | loss | 25503493 |
| esv3644642 | CNV | loss | 21293372 |
| esv3644643 | CNV | loss | 21293372 |
| nsv1072891 | CNV | deletion | 25765185 |
| nsv1123272 | CNV | deletion | 24896259 |
| nsv1125676 | CNV | tandem duplication | 24896259 |
| nsv1131438 | CNV | deletion | 24896259 |
| nsv1133010 | OTHER | inversion | 24896259 |
| nsv1138720 | CNV | deletion | 24896259 |
| nsv1140251 | OTHER | inversion | 24896259 |
| nsv1152956 | OTHER | inversion | 26484159 |
| nsv2528 | CNV | deletion | 18451855 |
| nsv428369 | CNV | loss | 18775914 |
| nsv523948 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.88;
83.71% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MYH14 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH14 Gene
Disorders for MYH14 Gene
(24) MalaCards diseases for MYH14 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| peripheral neuropathy, myopathy, hoarseness, and hearing loss |
|
|
| deafness, autosomal dominant 4a |
|
|
| low isolated anorectal malformation |
|
|
| autosomal dominant non-syndromic sensorineural deafness type dfna |
|
|
| axonal neuropathy |
|
|
Search MYH14 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MYH14_HUMAN- Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]: A form of non-syndromic 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. {ECO:0000269 PubMed:15015131, ECO:0000269 PubMed:16222661}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]: 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. {ECO:0000269 PubMed:21480433}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MYH14
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for MYH14 Gene
Publications for MYH14 Gene
- Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. (PMID: 18471249) Martinelli M … Carinci F (European journal of oral sciences 2008) 3 23 41
- Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). (PMID: 15015131) Donaudy F … Savoia A (American journal of human genetics 2004) 2 3 4
- Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family. (PMID: 14594953) Golomb E … Adelstein RS (The Journal of biological chemistry 2004) 3 4 23
- A novel myosin heavy chain gene in human chromosome 19q13.3. (PMID: 12909352) Leal A … Rautenstrauss B (Gene 2003) 2 3 4
- A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. (PMID: 21480433) Choi BO … Chung KW (Human mutation 2011) 3 4
ExternalLinks
Products for MYH14 Gene
- Custom Antibody ServicesOriGene Antibodies for MYH14
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MYH14
- Origene Custom Protein Services for MYH14
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- Browse OriGene Inhibitory RNA Products For MYH14
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- Sino Biological Human cDNA Clone for MYH14
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins for MYH14
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- Invitrogen Antibodies for MYH14 (AFLGC-MYH14)
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- VectorBuilder Custom and pre-made DNA vectors for MYH14 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MYH14 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MYH14 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MYH14 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MYH14
- antibodies-online: Show 958 available Myosin Antibodies ranked by validation data
- antibodies-online: Search results for available Myosin related products ranked by validation data
- antibodies-online: Search results for available Myosin related products ranked by validation data
- Horizon Cell Lines for MYH14
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYH14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYH14
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MYH14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH14
Sources for MYH14 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB