MYH6 myosin heavy chain 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH6provided by HGNC
Official Full Name: myosin heavy chain 6provided by HGNC
Primary source: HGNC:HGNC:7576
See related: Ensembl:ENSG00000197616 MIM:160710; AllianceGenome:HGNC:7576
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: ASD3; MYHC; SSS3; CMH14; MYHCA; CMD1EE; alpha-MHC
Summary: Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
Expression: Restricted expression toward heart (RPKM 1273.8) See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23381987..23408273, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17583003..17609277, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23851196..23877482, complement)

Chromosome 14 - NC_000014.9 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MYH6 suppresses tumor progression by downregulating KIT expression in human prostate cancer.
Title: MYH6 suppresses tumor progression by downregulating KIT expression in human prostate cancer.
Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses.
Title: Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses.
Heart proteomic profiling discovers MYH6 and COX5B as biomarkers for sudden unexplained death.
Title: Heart proteomic profiling discovers MYH6 and COX5B as biomarkers for sudden unexplained death.
Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses.
Title: Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses.
alpha-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.
Title: α-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.
Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.
Title: Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.
Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects.
Title: Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects.
Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.
Title: Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.
Association of the MYH6 Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy.
Title: Association of the MYH6 Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy.
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
Title: Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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
Atrial septal defect 3 MedGen: C3279790 OMIM: 614089 GeneReviews: Not available	not available
Dilated cardiomyopathy 1EE MedGen: C2750466 OMIM: 613252 GeneReviews: Dilated Cardiomyopathy Overview	not available
Hypertrophic cardiomyopathy 1 MedGen: C3495498 OMIM: 192600 GeneReviews: Hypertrophic Cardiomyopathy Overview	not available
Hypertrophic cardiomyopathy 14 MedGen: C2750467 OMIM: 613251 GeneReviews: Not available	not available
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	not available
Sick sinus syndrome 3, susceptibility to MedGen: C3279791 OMIM: 614090 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies multiple loci related to resting heart rate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. EBI GWAS Catalog EBI GWAS CatalogPubMed
Several common variants modulate heart rate, PR interval and QRS duration. 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

RH71374 (e-PCR)
- UniSTS:5242

NoName (e-PCR)
- UniSTS:483984

MYH6 (e-PCR)
- UniSTS:511900

MYH6 (e-PCR)
- UniSTS:507354

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IDA Inferred from Direct Assay more info	PubMed
enables microfilament motor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables microfilament motor activity	ISS Inferred from Sequence or Structural Similarity more info
enables myosin phosphatase activity	TAS Traceable Author Statement more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adult heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac muscle contraction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cardiac muscle hypertrophy in response to stress	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle filament sliding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle filament sliding	TAS Traceable Author Statement more info
involved_in myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of blood pressure	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of heart growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of the force of heart contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of the force of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcomere organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in striated muscle contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visceral muscle development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Z disc	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
part_of muscle myosin complex	TAS Traceable Author Statement more info	PubMed
located_in myofibril	ISS Inferred from Sequence or Structural Similarity more info
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	TAS Traceable Author Statement more info	PubMed
is_active_in myosin filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sarcomere	TAS Traceable Author Statement more info	PubMed
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myosin-6

Names: myHC-alpha; myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)

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_023444.1 RefSeqGene

Range

5001..31288

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_389

mRNA and Protein(s)

NM_002471.4 → NP_002462.2 myosin-6

See identical proteins and their annotated locations for NP_002462.2

Status: REVIEWED

Source sequence(s)

AL049829, BC132667, D00943, DA566231, M21664

Consensus CDS

CCDS9600.1

UniProtKB/Swiss-Prot

A2RTX1, D9YZU2, P13533, Q13943, Q14906, Q14907

UniProtKB/TrEMBL

A5YM51

Related

ENSP00000386041.3, ENST00000405093.9

Conserved Domains (8) summary

cd01377
Location:99 → 768

MYSc_class_II; class II myosins, motor domain

pfam00063
Location:87 → 768

Myosin_head; Myosin head (motor domain)

pfam01576
Location:848 → 1925

Myosin_tail_1; Myosin tail

pfam02736
Location:35 → 72

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1740 → 1832

TMPIT; TMPIT-like protein

cl00459
Location:1297 → 1409

MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

cl00817
Location:1134 → 1295

MM_CoA_mutase; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM)-like family; contains proteins similar to MCM, and the large subunit of Streptomyces coenzyme B12-dependent isobutyryl-CoA mutase (ICM). MCM catalyzes the isomerization of ...

cl02488
Location:881 → 1043

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...