MYOM3 myomesin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOM3provided by HGNC
Official Full Name: myomesin 3provided by HGNC
Primary source: HGNC:HGNC:26679
See related: Ensembl:ENSG00000142661 MIM:616832; AllianceGenome:HGNC:26679
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 protein homodimerization activity. Predicted to be involved in muscle contraction. Predicted to be active in M band. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart (RPKM 41.6), kidney (RPKM 17.2) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (24056041..24112135, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (23893755..23949845, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (24382531..24438625, complement)

Chromosome 1 - NC_000001.11 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?

An acute eccentric exercise increases circulating myomesin 3 fragments.
Title: An acute eccentric exercise increases circulating myomesin 3 fragments.
mutations in Pakistani patients with dilated cardiomyopathy rs375563861 (C2orf40), rs143187236 (MYOM3), and rs564181443 (RTKN2) have 3 fold or higher allele frequency in South Asians than in the global populations
Title: Rare genetic mutations in Pakistani patients with dilated cardiomyopathy.
MYOM3 fragments hold promise for minimally invasive assessment of experimental therapies for DMD and other neuromuscular disorders.
Title: Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene variants associated with ischemic stroke: the cardiovascular health study.

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

EBI GWAS Catalog

Description
Genome-wide association of mood-incongruent psychotic bipolar disorder. 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

AL009599 (e-PCR)
- UniSTS:17706

SHGC-144714 (e-PCR)
- UniSTS:172373

SHGC-146061 (e-PCR)
- UniSTS:174973

SHGC-74401 (e-PCR)
- UniSTS:6822

GDB:549149 (e-PCR)
- UniSTS:157614

GDB:549165 (e-PCR)
- UniSTS:157619

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in M band	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: myomesin-3

Names: myomesin family, member 3

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_152372.4 → NP_689585.3 myomesin-3

See identical proteins and their annotated locations for NP_689585.3

Status: VALIDATED

Source sequence(s)

AL591178, BX647453

Consensus CDS

CCDS41281.1

UniProtKB/Swiss-Prot

A6NF75, Q5VTT5, Q5VTT6, Q6AWC0, Q6AWC1, Q6NXF9, Q6ZRG7, Q7Z3G9, Q8NA11, Q96C54

Related

ENSP00000363557.3, ENST00000374434.4

Conserved Domains (3) summary

cd00063
Location:802 → 891

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00096
Location:1334 → 1337

Ig; Ig strand A [structural motif]

cl11960
Location:1334 → 1424

Ig; Immunoglobulin domain