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MYOM2 myomesin 2 [ Homo sapiens (human) ]

Gene ID: 9172, updated on 9-Oct-2021

Summary

Official Symbol
MYOM2provided by HGNC
Official Full Name
myomesin 2provided by HGNC
Primary source
HGNC:HGNC:7614
See related
Ensembl:ENSG00000036448 MIM:603509
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
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Genomic context

See MYOM2 in Genome Data Viewer
Location:
8p23.3
Exon count:
37
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (2045046..2145456)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1993161..2093380)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene KBTBD11 antisense RNA 1 Neighboring gene KBTBD11 overlapping transcript 1 Neighboring gene kelch repeat and BTB domain containing 11 Neighboring gene VISTA enhancer hs2514 Neighboring gene microRNA 7160 Neighboring gene uncharacterized LOC105377781 Neighboring gene uncharacterized LOC105377782

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
GeneReviews: Not available
Genome-wide association study of selenium concentrations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in mitochondrion HDA PubMed 
located_in myosin filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

  1. NM_003970.4NP_003961.3  myomesin-2

    Status: VALIDATED

    Source sequence(s)
    AC245164, AL596730, BC052969, BP260135, BX501741, DA233884, X69089
    Consensus CDS
    CCDS5957.1
    UniProtKB/Swiss-Prot
    P54296
    Related
    ENSP00000262113.4, ENST00000262113.9
    Conserved Domains (7) summary
    cd00096
    Location:171242
    Ig; Immunoglobulin domain
    cd05891
    Location:13441435
    Ig_M-protein_C; C-terminal immunoglobulin (Ig)-like domain of M-protein (also known as myomesin-2)
    smart00408
    Location:291354
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:290372
    IG_like; Immunoglobulin like
    cd00063
    Location:383475
    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:13471435
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:942995
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    2045046..2145456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716237.1XP_006716300.1  myomesin-2 isoform X1

    Conserved Domains (7) summary
    cd00096
    Location:171242
    Ig; Immunoglobulin domain
    cd05891
    Location:13241415
    Ig_M-protein_C; C-terminal immunoglobulin (Ig)-like domain of M-protein (also known as myomesin-2)
    smart00408
    Location:291354
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:290372
    IG_like; Immunoglobulin like
    cd00063
    Location:383475
    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:13271415
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:942995
    Ig; Immunoglobulin domain

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187576.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    228371..328590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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