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MYOM2 myomesin 2 [ Homo sapiens (human) ]

Gene ID: 9172, updated on 19-Jul-2014
Official Symbol
MYOM2provided by HGNC
Official Full Name
myomesin 2provided by HGNC
Primary source
HGNC:7614
See related
Ensembl:ENSG00000036448; HPRD:04619; MIM:603509; Vega:OTTHUMG00000129175
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]
See MYOM2 in Epigenomics, MapViewer
Location:
8p23.3
Exon count:
37
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (2045043..2145456)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1993082..2093380)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor (GEF) 10 Neighboring gene uncharacterized LOC100131395 Neighboring gene uncharacterized LOC101928058 Neighboring gene kelch repeat and BTB (POZ) domain containing 11 Neighboring gene microRNA 7160 Neighboring gene uncharacterized LOC101927815 Neighboring gene uncharacterized LOC101927836

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
M band IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
myosin filament IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
myomesin-2
Names
myomesin-2
M-protein
M-band protein
myomesin family member 2
myomesin (M-protein) 2, 165kDa
165 kDa titin-associated protein
titin-associated protein, 165 kD
165 kDa connectin-associated protein

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_003970.3NP_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, OTTHUMP00000159458, ENST00000262113, OTTHUMT00000251249
    Conserved Domains (6) summary
    cd00096
    Location:171242
    Blast Score: 135
    Ig; Immunoglobulin domain
    cd05891
    Location:13441435
    Blast Score: 494
    Ig_M-protein_C; C-terminal immunoglobulin (Ig)-like domain of M-protein (also known as myomesin-2)
    smart00410
    Location:290372
    Blast Score: 120
    IG_like; Immunoglobulin like
    cd00063
    Location:383475
    Blast Score: 221
    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
    Blast Score: 243
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:942995
    Blast Score: 90
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187576.1 

    Range
    228368..328590
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    2045043..2145456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716237.1XP_006716300.1  

    Conserved Domains (6) summary
    cd00096
    Location:171242
    Blast Score: 134
    Ig; Immunoglobulin domain
    cd05891
    Location:13241415
    Blast Score: 493
    Ig_M-protein_C; C-terminal immunoglobulin (Ig)-like domain of M-protein (also known as myomesin-2)
    smart00410
    Location:290372
    Blast Score: 119
    IG_like; Immunoglobulin like
    cd00063
    Location:383475
    Blast Score: 220
    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
    Blast Score: 242
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:942995
    Blast Score: 90
    Ig; Immunoglobulin domain

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    1809335..1908897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    1992917..2093330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)