MYH14 myosin heavy chain 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH14provided by HGNC
Official Full Name: myosin heavy chain 14provided by HGNC
Primary source: HGNC:HGNC:23212
See related: Ensembl:ENSG00000105357 MIM:608568; AllianceGenome:HGNC:23212
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DFNA4; MHC16; MYH17; PNMHH; DFNA4A; myosin; FP17425; NMHC II-C; NMHC-II-C
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]
Expression: Broad expression in colon (RPKM 39.5), duodenum (RPKM 33.8) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (50203622..50310540)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (53291137..53398069)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (50706879..50813797)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
Title: Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Title: Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics.
Title: Distinct roles of nonmuscle myosin II isoforms for establishing tension and elasticity during cell morphodynamics.
Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.
Title: Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.
A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
Title: A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.
We describe the third family carrying the R941L mutation in MYH14, and demonstrate that the R941L mutation impairs non-muscle myosin protein function. To better understand the molecular basis of the peripheral neuropathy phenotype associated with the R941L mutation, which has been hindered by the fact that NMIIC is largely uncharacterized, we have established a previously unrecognized biological role for NMIIC in mediatin
Title: The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
confirm faster ADP release from R694N actomyosin mutant, but is not as dramatic as the difference of kinetics of ADP release in the alpha and beta isoforms.
Title: Electrostatic interactions in the force-generating region of the human cardiac myosin modulate ADP dissociation from actomyosin.
a truncation mutation in the cMLCK gene p.Pro639Valfs*15 can be associated with significant impairment of MLC2v phosphorylation and possibly with development of DCM, although a larger study of DCM patients is required to determine the prevalence of this mutation and further strengthen its association with disease development.
Title: Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy.
This is the first identification of mutations in MYH14 as a cause of Anorectal malformations.
Title: Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population.
By reporting two novel variants of MYH14, we suggest that the present study extends the phenotypic spectrum of autosomal dominant MYH14 variants to include nonsyndromic, severe-to-profound hearing loss with prelingual onset.
Title: Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 4A MedGen: C1833503 OMIM: 600652 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome MedGen: C3280556 OMIM: 614369 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	HIV-1 protease cleaves human myosin heavy chain in vitro	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481051

NoName (e-PCR)
- UniSTS:482355

D19S881 (e-PCR), detects polymorphism
- UniSTS:70312

SHGC-149725 (e-PCR)
- UniSTS:183209

G31336 (e-PCR)
- UniSTS:11701

D19S904 (e-PCR), detects polymorphism
- UniSTS:7115

G18051 (e-PCR)
- UniSTS:71632

D19S866 (e-PCR)
- UniSTS:28138

Bdya0h04 (e-PCR)
- UniSTS:41721

Clone Names

FLJ13881, FLJ43092, KIAA2034, DKFZp667A1311

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
contributes_to actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
contributes_to microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament-based movement	IEA Inferred from Electronic Annotation more info
involved_in actomyosin structure organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actomyosin structure organization	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuronal action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vocalization behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in actomyosin	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin II complex	IDA Inferred from Direct Assay more info	PubMed
located_in myosin II filament	IDA Inferred from Direct Assay more info	PubMed
is_active_in myosin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myosin-14

Names: MYH14 variant protein; myosin heavy chain, non-muscle IIc; myosin, heavy chain 14, non-muscle; myosin, heavy polypeptide 14; non-muscle myosin heavy chain IIc; nonmuscle myosin heavy chain II-C

NP_001070654.1

EC 5.6.1.8

NP_001139281.1

EC 5.6.1.8

NP_079005.3

EC 5.6.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011645.1 RefSeqGene

Range

4995..111913

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001077186.2 → NP_001070654.1 myosin-14 isoform 1

See identical proteins and their annotated locations for NP_001070654.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. The resulting isoform (1) lacks an internal segment in the motor domain, compared to isoform 3.

Source sequence(s)

AB111886, AC008655, AC010515, AC020906, AK125082, AY165122, BC007877, BC018933

Consensus CDS

CCDS46151.1

UniProtKB/Swiss-Prot

Q7Z406

UniProtKB/TrEMBL

B3KWH4

Related

ENSP00000407879.1, ENST00000425460.6

Conserved Domains (5) summary

cd14930
Location:119 → 796

MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain

pfam00063
Location:108 → 796

Myosin_head; Myosin head (motor domain)

pfam01576
Location:873 → 1953

Myosin_tail_1; Myosin tail

cd16269
Location:1689 → 1706

GBP_C; coiled coil [structural motif]

cl20817
Location:1621 → 1721

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001145809.2 → NP_001139281.1 myosin-14 isoform 3

See identical proteins and their annotated locations for NP_001139281.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AB290169, AC020906, AK125082, BC007877, BC018933, BC129803, DB110776

Consensus CDS

CCDS54295.1

UniProtKB/Swiss-Prot

Q7Z406

UniProtKB/TrEMBL

A1L2Z2, B3KWH4

Related

ENSP00000493594.1, ENST00000642316.2

Conserved Domains (2) summary

cd14930
Location:119 → 829

MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain

pfam01576
Location:906 → 1986

Myosin_tail_1; Myosin tail
NM_024729.4 → NP_079005.3 myosin-14 isoform 2

See identical proteins and their annotated locations for NP_079005.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' coding region, compared to variant 3. The resulting isoform (2) lacks two separate segments in the motor domain, compared to isoform 3.

Source sequence(s)

AB111886, AC008655, AC010515, AC020906, AY165122, BC007877, BC018933

Consensus CDS

CCDS59411.1

UniProtKB/Swiss-Prot

B0I1S2, C3TTN4, Q5CZ75, Q6XYE4, Q76B62, Q7Z406, Q8WV23, Q96I22, Q9BT27, Q9BW35, Q9H882

Related

ENSP00000366169.3, ENST00000376970.6

Conserved Domains (2) summary

cd14930
Location:119 → 788

MYSc_Myh14_mammals; class II myosin heavy chain 14 motor domain

cl25732
Location:865 → 1945

SMC_N; RecF/RecN/SMC N terminal domain