MYH14 - myosin heavy chain 14 Gene

Also Known as DFNA4; MHC16; MYH17; PNMHH; DFNA4A; myosin; FP17425; NMHC II-C; NMHC-II-C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79784

About MYH14

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,203,622-50,310,540 (from NCBI)

This gene has 10 transcripts (splice variants), 190 orthologues, 43 paralogues and is associated with 4 phenotypes. Broad expression in colon (RPKM 39.5), duodenum (RPKM 33.8) and 16 other tissues.

Summary

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]

MYH14 Products (3)

mRNA	Protein	Name
NM_001077186.2	NP_001070654.1	myosin-14 isoform 1
NM_001145809.2	NP_001139281.1	myosin-14 isoform 3
NM_024729.4	NP_079005.3	myosin-14 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
contributes to actin filament binding	IDA IDA: Inferred from direct assay	24072716	GOA
contributes to microfilament motor activity	IDA IDA: Inferred from direct assay	24072716	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in actomyosin structure organization	IDA IDA: Inferred from direct assay	24072716	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	21480433	GOA
involved in neuronal action potential	IMP IMP: Inferred from mutant phenotype	21480433	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	21480433	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	21480433	GOA
involved in skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	21480433	GOA
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	21480433	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in actomyosin	IDA IDA: Inferred from direct assay	24072716	GOA
part of myosin II complex	IDA IDA: Inferred from direct assay	24072716	GOA
located in myosin II filament	IDA IDA: Inferred from direct assay	24072716	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYH14 Protein Structure

Myosin_head

Myosin_tail_1

0
400
800
1200
1600
2028 a.a.

Protein Preferred Names	Protein Names
myosin-14	MYH14 variant protein

MYH14 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P811119	Myosin 14 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome PNMHH Peripheral Neuropathy-Myopathy-Hoarseness-Deafness Syndrome Neuropathy, Peripheral, Myopathy, Hoarseness, And Hearing Loss
Deafness, Autosomal Dominant 4a	Deafness, Autosomal Dominant 4 DFNA4A Dfna4 Autosomal Dominant Nonsyndromic Deafness 4a Autosomal Dominant Deafness 4a Deafness, Autosomal Dominant, 4a Deafness Autosomal Dominant 4 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 Deafness, Autosomal Dominant, Type 4a
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Dominant 17	DFNA17 Autosomal Dominant Nonsyndromic Deafness 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Autosomal Dominant Deafness 17 Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration Nonsyndromic Hereditary Deafness Dfna17 Deafness, Autosomal Dominant, 17 Cochleosaccular Degeneration Deafness, Autosomal Dominant, Type 17 Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
Myh-9 Related Disease	Myh9-Related Disease Myh9-Rd Myh9-Related Disorder Myh9-Related Syndrome Myh9-Related Syndromic Thrombocytopenia Sebastian Syndrome
Deafness, Autosomal Dominant 22	DFNA22 Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy Autosomal Dominant Nonsyndromic Deafness 22 Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Autosomal Dominant Deafness 22 Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome DFNHCM Deafness, Autosomal Dominant, 22 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22 Deafness, Autosomal Dominant, Type 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Deafness, Autosomal Dominant 6	DFNA6 Dfna14 Dfna38 Deafness, Autosomal Dominant 6/14/38 Autosomal Dominant Nonsyndromic Deafness 6 Deafness, Autosomal Dominant 14 Deafness, Autosomal Dominant 38 Autosomal Dominant Deafness 14 Autosomal Dominant Deafness 38 Autosomal Dominant Deafness 6 Deafness, Autosomal Dominant, 6 Deafness Autosomal Dominant 14 Deafness Autosomal Dominant 38 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6
Deafness, Autosomal Dominant 12	DFNA12 Dfna8 Deafness, Autosomal Dominant 8 Deafness, Autosomal Dominant 8/12 Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Deafness 12 Autosomal Dominant Deafness 8 Deafness, Autosomal Dominant, 12 Deafness Autosomal Dominant 8 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12 Deafness, Autosomal Dominant, Type 12
Deafness, Autosomal Dominant 48	DFNA48 Autosomal Dominant Nonsyndromic Deafness 48 Autosomal Dominant Deafness 48 Deafness, Autosomal Dominant, 48 Deafness Autosomal Dominant Due To Mutation In Myo1a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48 Deafness, Autosomal Dominant, Type 48
Axonal Neuropathy
Deafness, Autosomal Recessive 37	DFNB37 Autosomal Recessive Nonsyndromic Deafness 37 Autosomal Recessive Deafness 37 Deafness, Autosomal Recessive, 37 Congenital Neurosensory Deafness Autosomal Recessive 37 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37 Deafness, Autosomal Recessive, Type 37
Myopathy	Muscular Diseases Myopathies
Deafness, Autosomal Dominant 64	DFNA64 Autosomal Dominant Nonsyndromic Deafness 64 Autosomal Dominant Deafness 64 Deafness, Autosomal Dominant, 64 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64 Deafness, Autosomal Dominant, Type 64
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Konigsmark Syndrome DFNA1 Autosomal Dominant Nonsyndromic Deafness 1 Lfhl1 Deafness, Autosomal Dominant 1 Autosomal Dominant Deafness 1 Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia Hereditary Low Frequency Hearing Loss 1 Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome Hereditary Low-Frequency Hearing Loss Hereditary Low-Frequency Sensorineural Hearing Loss Lfsnhl1 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1 Deafness, Autosomal Dominant, Type 1
Deafness, Autosomal Recessive 30	DFNB30 Autosomal Recessive Nonsyndromic Deafness 30 Autosomal Recessive Deafness 30 Deafness, Autosomal Recessive, 30 Deafness, Autosomal Recessive, Type 30
Autosomal Recessive Nonsyndromic Deafness 3	Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3 Dfnb3 Nrsd3 Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 16	DFNA16 Autosomal Dominant Nonsyndromic Deafness 16 Autosomal Dominant Deafness 16
Deafness, Autosomal Dominant 21	DFNA21 Autosomal Dominant Nonsyndromic Deafness 21 Autosomal Dominant Deafness 21 Deafness, Autosomal Dominant, 21
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS08899	MYH14 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08906	MYH7B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MYH14	VGNC	VGNC:43538
Bos taurus	MYH14	VGNC	VGNC:31796
Mus musculus	MYH14	MGD	MGI:1919210
Rattus norvegicus	MYH14	RGD	RGD:1306821
Macaca mulatta	MYH14	VGNC	VGNC:75006
Felis catus	MYH14	VGNC	VGNC:63675
Others	MYH14	NCBI