MYOM2 myomesin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYOM2provided by HGNC
Official Full Name: myomesin 2provided by HGNC
Primary source: HGNC:HGNC:7614
See related: Ensembl:ENSG00000036448 MIM:603509; AllianceGenome:HGNC:7614
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: TTNAP
Summary: The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 193.6) and prostate (RPKM 8.7) See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.3

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (2045046..2145456)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (1823634..1924189)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (1993161..2093380)

Chromosome 8 - NC_000008.11 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?

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart.
Title: Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart.
a direct interaction of dysferlin with Trim72/MG53, AHNAK, cytoplasmic dynein, myomesin-2 and calsequestrin-1, but not with caveolin-3 or dystrophin, is reported.
Title: Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Results identify muscle-type creatine kinase as a binding partner of a central portion of myomesin and the closely related M-protein.
Title: Muscle-type creatine kinase interacts with central domains of the M-band proteins myomesin and M-protein.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of selenium concentrations. 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

WI-19139 (e-PCR)
- UniSTS:31879

SHGC-11993 (e-PCR)
- UniSTS:62878

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in extraocular skeletal muscle development	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HDA more info	PubMed
located_in myosin filament	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myomesin-2

Names: 165 kDa connectin-associated protein; 165 kDa titin-associated protein; M-band protein; M-protein; myomesin (M-protein) 2, 165kDa; myomesin family member 2; titin-associated protein, 165 kD

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_003970.4 → NP_003961.3 myomesin-2

Status: VALIDATED

Source sequence(s)

AC245164, AL596730, BC052969, BP260135, BX501741, DA233884, X69089

Consensus CDS

CCDS5957.1

UniProtKB/Swiss-Prot

P54296, Q7Z3Y2

Related

ENSP00000262113.4, ENST00000262113.9

Conserved Domains (7) summary

cd00096
Location:171 → 242

Ig; Immunoglobulin domain

cd05891
Location:1344 → 1435

Ig_M-protein_C; C-terminal immunoglobulin (Ig)-like domain of M-protein (also known as myomesin-2)

smart00408
Location:291 → 354

IGc2; Immunoglobulin C-2 Type

smart00410
Location:290 → 372

IG_like; Immunoglobulin like

cd00063
Location:383 → 475

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 ...

pfam07679
Location:1347 → 1435

I-set; Immunoglobulin I-set domain

cl11960
Location:942 → 995

Ig; Immunoglobulin domain