MYH8 myosin heavy chain 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH8provided by HGNC
Official Full Name: myosin heavy chain 8provided by HGNC
Primary source: HGNC:HGNC:7578
See related: Ensembl:ENSG00000133020 MIM:160741; AllianceGenome:HGNC:7578
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: DA7; MyHC-pn; gtMHC-F; MyHC-peri
Summary: Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]
Expression: Biased expression in esophagus (RPKM 10.4), prostate (RPKM 1.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (10390322..10421950, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (10297824..10333264, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (10293639..10325267, complement)

Chromosome 17 - NC_000017.11 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: HPA RNA-seq normal tissues 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?

Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis.
Title: Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis.
Novel exomic rare variants associated with venous thrombosis.
Title: Novel exomic rare variants associated with venous thrombosis.
Truncation of MYH8 tail in AML: a novel prognostic marker with increase cell migration and epithelial-mesenchymal transition utilizing RAF/MAPK pathway.
Title: Truncation of MYH8 tail in AML: a novel prognostic marker with increase cell migration and epithelial-mesenchymal transition utilizing RAF/MAPK pathway.
There was an immediate shutdown of the MHC IIX gene after resistance exercise. Silencing of the MHC IIX gene is sustained at least 4 days after removal of the stimulus.
Title: Rapid switch-off of the human myosin heavy chain IIX gene after heavy load muscle contractions is sustained for at least four days.
Loss-of-function variants in the MYH8 gene do not cause autosomal dominant trismus-pseudocamptodactyly syndrome.
Title: Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
a family in which two out three sibs affected with trismus pseudocamptodactyly, born from healthy nonconsanguineous parents, were heterozygous for the c.2021G > A mutation due to a possible germline mosaicism in MYH8
Title: Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of trimus-pseudocamptodactyly syndrome
Title: Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.
haplotype analysis revealed that this mutation has arisen independently in North American and European TPS pedigrees
Title: Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Carney complex - trismus - pseudocamptodactyly syndrome MedGen: C1837245 OMIM: 608837 GeneReviews: Not available	not available
Hecht syndrome MedGen: C0265226 OMIM: 158300 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-171513 (e-PCR)
- UniSTS:183102

RH74898 (e-PCR)
- UniSTS:86710

STS-M36769 (e-PCR)
- UniSTS:15077

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	TAS Traceable Author Statement more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
enables myosin light chain binding	TAS Traceable Author Statement more info	PubMed
enables myosin phosphatase activity	TAS Traceable Author Statement more info
enables structural constituent of muscle	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle contraction	NAS Non-traceable Author Statement 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 skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of muscle myosin complex	NAS Non-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
located_in myosin filament	IC Inferred by Curator more info	PubMed
located_in sarcomere	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: myosin-8

Names: fetal-myosin heavy chain; myHC-perinatal; myosin heavy chain, skeletal muscle, perinatal; myosin, heavy chain 8, skeletal muscle, perinatal; myosin, heavy polypeptide 8, skeletal muscle, perinatal

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_013015.1 RefSeqGene

Range

5001..36629

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002472.3 → NP_002463.2 myosin-8

See identical proteins and their annotated locations for NP_002463.2

Status: REVIEWED

Source sequence(s)

AC005291, AC005323, DB142109, M36769, Z38133

Consensus CDS

CCDS11153.1

UniProtKB/Swiss-Prot

P13535, Q14910

UniProtKB/TrEMBL

V9HWC1

Related

ENSP00000384330.2, ENST00000403437.2

Conserved Domains (8) summary

cd14918
Location:102 → 769

MYSc_Myh8; class II myosin heavy chain 8, motor domain

pfam00063
Location:90 → 769

Myosin_head; Myosin head (motor domain)

pfam01576
Location:849 → 1926

Myosin_tail_1; Myosin tail

pfam02736
Location:38 → 75

Myosin_N; Myosin N-terminal SH3-like domain

pfam06273
Location:1042 → 1099

eIF-4B; Plant specific eukaryotic initiation factor 4B

pfam07851
Location:1741 → 1828

TMPIT; TMPIT-like protein

cl19219
Location:1505 → 1581

DUF342; Protein of unknown function (DUF342)

cl19764
Location:1375 → 1510

COG6; Conserved oligomeric complex COG6