MYH15 myosin heavy chain 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYH15provided by HGNC
Official Full Name: myosin heavy chain 15provided by HGNC
Primary source: HGNC:HGNC:31073
See related: Ensembl:ENSG00000144821 MIM:609929; AllianceGenome:HGNC:31073
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
Summary: Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in extraocular skeletal muscle development. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.13

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (108380368..108551072, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (111100157..111269214, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (108099215..108229443, complement)

Chromosome 3 - NC_000003.12 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 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?

Rare variants in MYH15 represent a likely genetic risk factor for amyotrophic lateral sclerosis. Furthermore, MYH15 could modulate the toxicity of dipeptides produced from expanded G4C2 repeat.
Title: Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
This is the first study to report the association of MYH15 gene polymorphisms with asthma. Polymorphisms of rs9288876, rs7635009, and rs1454197 altered transcriptional regulation of MYH15 and may be functional variants conferring susceptibility to asthma
Title: Association Study of Myosin Heavy Chain 15 Polymorphisms with Asthma Susceptibility in Chinese Han.
MYH15 expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
MYH15, the ortholog of the ventricular MYH of frogs and birds, is selectively expressed at the transcript level in the extraocular muscles.
Title: Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms associated with both noncardioembolic stroke and coronary heart disease: vienna stroke registry.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Five common gene variants identify elevated genetic risk for coronary heart disease.

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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

EBI GWAS Catalog

Description
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MYH15_9295 (e-PCR)
- UniSTS:468535

D3S2495 (e-PCR), detects polymorphism
- UniSTS:18934

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

Process	Evidence Code	Pubs
involved_in extraocular skeletal muscle development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in myofibril	IEA Inferred from Electronic Annotation more info
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-15

Names: myosin, heavy polypeptide 15

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.

mRNA and Protein(s)

NM_014981.3 → NP_055796.2 myosin-15

Status: VALIDATED

Source sequence(s)

AC069499, AC135308

Consensus CDS

CCDS43127.2

UniProtKB/Swiss-Prot

Q9Y2K3

UniProtKB/TrEMBL

A0A8I5KXJ3

Related

ENSP00000508967.1, ENST00000693548.1

Conserved Domains (3) summary

COG5022
Location:33 → 1440

COG5022; Myosin heavy chain [General function prediction only]

TIGR02168
Location:1073 → 1912

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

cd14929
Location:97 → 758

MYSc_Myh15_mammals; class II myosin heavy chain 15, motor domain

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_000003.12 Reference GRCh38.p14 Primary Assembly

Range

108380368..108551072 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011512559.3 → XP_011510861.1 myosin-15 isoform X1

See identical proteins and their annotated locations for XP_011510861.1

Conserved Domains (7) summary

cd14929
Location:117 → 778

MYSc_Myh15_mammals; class II myosin heavy chain 15, motor domain

pfam00063
Location:105 → 778

Myosin_head; Myosin head (motor domain)

pfam01576
Location:859 → 1935

Myosin_tail_1; Myosin tail

pfam02736
Location:52 → 90

Myosin_N; Myosin N-terminal SH3-like domain

pfam13094
Location:1017 → 1164

CENP-Q; CENP-Q, a CENPA-CAD centromere complex subunit

pfam14235
Location:1864 → 1940

DUF4337; Domain of unknown function (DUF4337)

cl19511
Location:1487 → 1600

DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)