MYH4 myosin heavy chain 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH4provided by HGNC
Official Full Name: myosin heavy chain 4provided by HGNC
Primary source: HGNC:HGNC:7574
See related: Ensembl:ENSG00000264424 MIM:160742; AllianceGenome:HGNC:7574
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MYH2B; MyHC-2B; MyHC-IIb
Summary: Enables double-stranded RNA binding activity. Involved in muscle contraction. Located in myofibril. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Low expression observed in reference dataset 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 (10443263..10469559, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (10350703..10377048, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (10346607..10372876, 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
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?

Transcriptional levels of MHC-I, MHC-IIa, and MHC-IIb in denervation groups were significantly down-regulated compared with controls
Title: Transition of myosin heavy chain isoforms in human laryngeal abductors following denervation.
MyHC-2b was always co-expressed with the major MyHC isoforms, not only with the fast ones (MyHC-2a and -2x) but with the slow isoform (MyHC-1) as well.
Title: Myosin heavy chain-2b transcripts and isoform are expressed in human laryngeal muscles.
NMMII and actin isoform expression changes coordinately with the remodeling phase of repair, and NMMII is increased as matrix stiffness increases. As NMMII expression increases, so does the fibroblast contractility.
Title: Temporal spatial expression and function of non-muscle myosin II isoforms IIA and IIB in scar remodeling.
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: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

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

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

MYH3 (e-PCR)
- UniSTS:504678

D17S1497E (e-PCR)
- UniSTS:151702

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	NAS Non-traceable Author Statement more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in ATP metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in actin filament-based movement	NAS Non-traceable Author Statement more info	PubMed
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle filament sliding	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of muscle myosin complex	NAS Non-traceable Author Statement more info	PubMed
located_in myofibril	IDA Inferred from Direct Assay 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 sarcomere	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myosin-4

Names: myosin heavy chain 2b; myosin heavy chain IIb; myosin heavy chain, skeletal muscle, fetal; myosin, heavy chain 4, skeletal muscle; myosin, heavy polypeptide 4, skeletal 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_052846.1 RefSeqGene

Range

5001..31270

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_017533.2 → NP_060003.2 myosin-4

See identical proteins and their annotated locations for NP_060003.2

Status: VALIDATED

Source sequence(s)

AC005323, AF111783

Consensus CDS

CCDS11154.1

UniProtKB/Swiss-Prot

Q9Y623

UniProtKB/TrEMBL

V9HWC1

Related

ENSP00000255381.2, ENST00000255381.2

Conserved Domains (8) summary

cd14915
Location:100 → 770

MYSc_Myh4; class II myosin heavy chain 4, motor domain

pfam00063
Location:88 → 770

Myosin_head; Myosin head (motor domain)

pfam01576
Location:850 → 1927

Myosin_tail_1; Myosin tail

pfam02736
Location:36 → 73

Myosin_N; Myosin N-terminal SH3-like domain

cl00459
Location:1299 → 1411

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

cl19219
Location:1670 → 1767

DUF342; Protein of unknown function (DUF342)

cl19764
Location:1376 → 1511

COG6; Conserved oligomeric complex COG6

cl23720
Location:965 → 1098

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

10443263..10469559 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017024676.2 → XP_016880165.1 myosin-4 isoform X1

UniProtKB/Swiss-Prot

Q9Y623

UniProtKB/TrEMBL

V9HWC1

Conserved Domains (8) summary

cd14915
Location:100 → 770

MYSc_Myh4; class II myosin heavy chain 4, motor domain

pfam00063
Location:88 → 770

Myosin_head; Myosin head (motor domain)

pfam01576
Location:850 → 1927

Myosin_tail_1; Myosin tail

pfam02736
Location:36 → 73

Myosin_N; Myosin N-terminal SH3-like domain

cl00459
Location:1299 → 1411

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

cl19219
Location:1670 → 1767

DUF342; Protein of unknown function (DUF342)

cl19764
Location:1376 → 1511

COG6; Conserved oligomeric complex COG6

cl23720
Location:965 → 1098

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)