MYH11 myosin heavy chain 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH11provided by HGNC
Official Full Name: myosin heavy chain 11provided by HGNC
Primary source: HGNC:HGNC:7569
See related: Ensembl:ENSG00000133392 MIM:160745; AllianceGenome:HGNC:7569
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: AAT4; FAA4; SMHC; SMMHC; VSCM2; SMMS-1
Summary: The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]
Expression: Biased expression in esophagus (RPKM 836.6), prostate (RPKM 661.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.11

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (15703135..15857028, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (15708067..15861962, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (15796992..15950885, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
Title: Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Title: Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.
Title: A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.
Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.
Title: Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia.
[Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFbeta-MYH11 Positive].
Title: [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive].
Association of gene polymorphisms in MYH11 and TGF-beta signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
Title: Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Title: A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.
Title: TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event.
Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Title: Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.
Title: Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women.

Submit: New GeneRIF Correction See all GeneRIFs (59)

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

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYH11 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Aortic aneurysm, familial thoracic 4 MedGen: C1851504 OMIM: 132900 GeneReviews: Heritable Thoracic Aortic Disease Overview	not available
Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243 GeneReviews: Heritable Thoracic Aortic Disease Overview	not available
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 MedGen: C5543476 OMIM: 619351 GeneReviews: Not available	not available
Visceral myopathy 2 MedGen: C5543466 OMIM: 619350 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2024-09-25) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2024-09-25) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association of body fat distribution in African ancestry populations suggests new loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. 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
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of myosin, heavy chain 11 (MYH11, smooth muscle) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
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

D16S3060 (e-PCR)
- UniSTS:70406

NoName (e-PCR)
- UniSTS:9484

D16S3302 (e-PCR)
- UniSTS:59154

RH79576 (e-PCR)
- UniSTS:87062

D16S3286 (e-PCR)
- UniSTS:61208

D16S2803 (e-PCR)
- UniSTS:153373

SHGC-60785 (e-PCR)
- UniSTS:31780

D8S2279 (e-PCR)
- UniSTS:473907

RH64988 (e-PCR)
- UniSTS:88639

D16S3127 (e-PCR), detects polymorphism
- UniSTS:24133

D16S2853 (e-PCR)
- UniSTS:153423

Myh11 (e-PCR), detects polymorphism
- UniSTS:143953

SHGC-152410 (e-PCR)
- UniSTS:177504

RH41965 (e-PCR)
- UniSTS:90731

SHGC-5890 (e-PCR)
- UniSTS:879

D1S1423 (e-PCR)
- UniSTS:149619

G10522 (e-PCR)
- UniSTS:2972

SHGC-61040 (e-PCR)
- UniSTS:10908

SHGC-1128 (e-PCR)
- UniSTS:33692

SHGC-3358 (e-PCR)
- UniSTS:91817

SHGC-6807 (e-PCR)
- UniSTS:69804

D16S405 (e-PCR)
- UniSTS:16819

D16S405 (e-PCR)
- UniSTS:14013

MYH11 (e-PCR)
- UniSTS:519367

NDE1__6219 (e-PCR)
- UniSTS:464080

D16S3286 (e-PCR)
- UniSTS:61905

D5S1597E (e-PCR)
- UniSTS:151019

RH69889 (e-PCR)
- UniSTS:30187

Clone Names

FLJ35232, MGC32963, MGC126726, DKFZp686D10126, DKFZp686D19237

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in actomyosin structure organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in elastic fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle myosin thick filament assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in smooth muscle contraction	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
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 melanosome	IEA Inferred from Electronic Annotation more info
part_of muscle myosin complex	TAS Traceable Author Statement more info	PubMed
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myosin filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myosin-11

Names: epididymis secretory sperm binding protein; myosin, heavy chain 11, smooth muscle; myosin, heavy polypeptide 11, smooth muscle

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_009299.1 RefSeqGene

Range

5003..158896

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1401

mRNA and Protein(s)

NM_001040113.2 → NP_001035202.1 myosin-11 isoform SM2B

See identical proteins and their annotated locations for NP_001035202.1

Status: REVIEWED

Description

Transcript Variant: This variant (SM2B) represents the longer transcript. It encodes the isoform SM2B.

Source sequence(s)

AA552189, AY520817, BC104906, BX489788

Consensus CDS

CCDS45424.1

UniProtKB/TrEMBL

B1PS43

Related

ENSP00000407821.2, ENST00000452625.7

Conserved Domains (8) summary

cd01377
Location:99 → 778

MYSc_class_II; class II myosins, motor domain

pfam00063
Location:87 → 778

Myosin_head; Myosin head (motor domain)

pfam01576
Location:855 → 1935

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 71

Myosin_N; Myosin N-terminal SH3-like domain

pfam09798
Location:1826 → 1942

LCD1; DNA damage checkpoint protein

pfam16046
Location:997 → 1089

FAM76; FAM76 protein

cl23717
Location:1073 → 1131

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

cl24005
Location:1787 → 1874

DUF2570; Protein of unknown function (DUF2570)
NM_001040114.2 → NP_001035203.1 myosin-11 isoform SM1B

See identical proteins and their annotated locations for NP_001035203.1

Status: REVIEWED

Description

Transcript Variant: This variant (SM1B) lacks a segment in the coding region, which leads to a frameshift, compared to variant SM2B. The encoded isoform (SM1B) is longer and varies in the carboxyl terminus, compared to isoform SM2B.

Source sequence(s)

AA552189, AY520817, BC104906, BX489788

Consensus CDS

CCDS45423.1

UniProtKB/TrEMBL

B1PS43

Related

ENSP00000379616.3, ENST00000396324.7

Conserved Domains (8) summary

cl14654
Location:1027 → 1299

V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains

cd01377
Location:99 → 778

MYSc_class_II; class II myosins, motor domain

pfam00063
Location:87 → 778

Myosin_head; Myosin head (motor domain)

pfam01576
Location:855 → 1935

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 71

Myosin_N; Myosin N-terminal SH3-like domain

pfam16046
Location:997 → 1089

FAM76; FAM76 protein

cl23717
Location:1073 → 1131

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

cl24005
Location:1787 → 1874

DUF2570; Protein of unknown function (DUF2570)
NM_002474.3 → NP_002465.1 myosin-11 isoform SM1A

See identical proteins and their annotated locations for NP_002465.1

Status: REVIEWED

Description

Transcript Variant: This variant (SM1A) lacks two segments in the coding region, compared to variant SM2B. The encoded isoform (SM1A) is shorter and varies in the carboxyl terminus, compared to isoform SM2B.

Source sequence(s)

AA552189, AY520817, BC104906, BX489788

Consensus CDS

CCDS10565.1

UniProtKB/Swiss-Prot

D2JYH7, O00396, O94944, P35749, P78422, Q3MIV8, Q3MNF0, Q3MNF1

UniProtKB/TrEMBL

A0A024QZJ4, B1PS43

Related

ENSP00000300036.5, ENST00000300036.6

Conserved Domains (3) summary

cd14921
Location:99 → 771

MYSc_Myh11; class II myosin heavy chain 11, motor domain

pfam01576
Location:848 → 1928

Myosin_tail_1; Myosin tail

pfam02736
Location:33 → 71

Myosin_N; Myosin N-terminal SH3-like domain
NM_022844.3 → NP_074035.1 myosin-11 isoform SM2A

See identical proteins and their annotated locations for NP_074035.1

Status: REVIEWED

Description

Transcript Variant: This variant (SM2A) lacks an in-frame segment of the coding region, compared to variant SM2B. It encodes a shorter isoform (SM2A), that is missing an internal segment compared to isoform SM2B.

Source sequence(s)

AA552189, AY520817, BC104906, BX489788

Consensus CDS

CCDS10566.1

UniProtKB/TrEMBL

B1PS43

Related

ENSP00000458731.1, ENST00000576790.7

Conserved Domains (8) summary

cd14921
Location:99 → 771

MYSc_Myh11; class II myosin heavy chain 11, motor domain

pfam00063
Location:87 → 771

Myosin_head; Myosin head (motor domain)

pfam01576
Location:848 → 1928

Myosin_tail_1; Myosin tail

pfam02736
Location:34 → 71

Myosin_N; Myosin N-terminal SH3-like domain

pfam09798
Location:1819 → 1935

LCD1; DNA damage checkpoint protein

pfam16046
Location:990 → 1082

FAM76; FAM76 protein

cl23717
Location:1066 → 1124

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

cl24005
Location:1780 → 1867

DUF2570; Protein of unknown function (DUF2570)