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MYOM2 myomesin 2 [ Homo sapiens (human) ]

Gene ID: 9172, updated on 7-Apr-2024

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
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Genomic context

See MYOM2 in Genome Data Viewer
Location:
8p23.3
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (2045046..2145456)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (1823634..1924189)
105.20220307 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 overlapping transcript 1 Neighboring gene KBTBD11 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1926153-1926712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1926713-1927271 Neighboring gene kelch repeat and BTB domain containing 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1969593-1970582 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1978746-1978950 Neighboring gene VISTA enhancer hs2514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2005611-2006111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2008946-2009868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2009869-2010789 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:2012487-2013034 Neighboring gene microRNA 7160 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2049318-2050517 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2084289-2084796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2085784-2086284 Neighboring gene uncharacterized LOC105377781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2128908-2129408 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:2130059-2130239 Neighboring gene uncharacterized LOC105377782

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 M band IEA
Inferred from Electronic Annotation
more info
 
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, Q7Z3Y2
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187576.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    1823634..1924189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)