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Aliases for CMYA5 Gene

Aliases for CMYA5 Gene

  • Cardiomyopathy Associated 5 2 3
  • Genethonin-3 2 3 4
  • Myospryn 3 4 6
  • TRIM76 3 4 6
  • Tripartite Motif-Containing Protein 76 3 4
  • SPRY Domain-Containing Protein 2 3 4
  • Tripartite Motif-Containing 76 2 3
  • Dystrobrevin-Binding Protein 2 3 4
  • C5orf10 3 4
  • SPRYD2 3 4
  • Cardiomyopathy-Associated Protein 5 3
  • Chromosome 5 Open Reading Frame 10 2
  • 2310076E16Rik 3
  • DTNBP2 4

External Ids for CMYA5 Gene

Previous Symbols for CMYA5 Gene

  • C5orf10

Summaries for CMYA5 Gene

GeneCards Summary for CMYA5 Gene

CMYA5 (Cardiomyopathy Associated 5) is a Protein Coding gene. GO annotations related to this gene include identical protein binding. An important paralog of this gene is FSD2.

UniProtKB/Swiss-Prot for CMYA5 Gene

  • May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CMYA5 Gene

Genomics for CMYA5 Gene

Genomic Location for CMYA5 Gene

Start:
79,689,836 bp from pter
End:
79,800,240 bp from pter
Size:
110,405 bases
Orientation:
Plus strand

Genomic View for CMYA5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CMYA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CMYA5 Gene

Regulatory Elements for CMYA5 Gene

Proteins for CMYA5 Gene

  • Protein details for CMYA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3K9-CMYA5_HUMAN
    Recommended name:
    Cardiomyopathy-associated protein 5
    Protein Accession:
    Q8N3K9
    Secondary Accessions:
    • A0PJB7
    • Q05CT4
    • Q2NKX1
    • Q2T9G9
    • Q69YQ8
    • Q69YQ9
    • Q6P517
    • Q6P5U3
    • Q7Z4I1
    • Q86T34
    • Q86T49
    • Q8N3S4
    • Q8N3S7
    • Q8NAG8
    • Q9UK88

    Protein attributes for CMYA5 Gene

    Size:
    4069 amino acids
    Molecular mass:
    449211 Da
    Quaternary structure:
    • Interacts with PRKAR2A (By similarity). Interacts with ACTN2 and DTNBP1/dysbindin (By similarity). Interacts with DES. Interacts with DMD/dystrophin (By similarity). Interacts with the calcineurin catalytic subunit PPP3CA (By similarity). Interacts with TTN. Interacts with CAPN3; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis.
    SequenceCaution:
    • Sequence=AAD55265.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH20856.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH22422.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH62664.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH63134.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI11530.1; Type=Erroneous termination; Positions=3283; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=AAQ09018.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH10406.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for CMYA5 Gene

Proteomics data for CMYA5 Gene at MOPED

Post-translational modifications for CMYA5 Gene

Other Protein References for CMYA5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CMYA5 Gene

Domains for CMYA5 Gene

Gene Families for CMYA5 Gene

HGNC:
  • AKAP :A-kinase anchor proteins
  • TRIM :Tripartite motif containing / Tripartite motif containing
  • FN3 :Fibronectin type III domain containing

Protein Domains for CMYA5 Gene

UniProtKB/Swiss-Prot:

CMYA5_HUMAN
Domain:
  • Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction between myospryn and PRKAR2A:
    • Q8N3K9
  • Contains 1 B30.2/SPRY domain.:
    • Q8N3K9
  • Contains 2 fibronectin type-III domains.:
    • Q8N3K9
genes like me logo Genes that share domains with CMYA5: view

Function for CMYA5 Gene

Molecular function for CMYA5 Gene

UniProtKB/Swiss-Prot Function: May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity).
UniProtKB/Swiss-Prot Induction: Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).

Gene Ontology (GO) - Molecular Function for CMYA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23414517
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with CMYA5: view

Phenotypes for CMYA5 Gene

GenomeRNAi human phenotypes for CMYA5:
genes like me logo Genes that share phenotypes with CMYA5: view

miRNA for CMYA5 Gene

miRTarBase miRNAs that target CMYA5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CMYA5 Gene

Localization for CMYA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CMYA5 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cytoplasm, myofibril, sarcomere, M line. Note=Found predominantly at the periphery of the nucleus but also throughout the cell. Localized in lysosomes (By similarity). In skeletal muscles, localizes along myofiber periphery, at costameres (By similarity). Predominantly flanks Z-disks. Occasionnally present at the M-band level. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CMYA5 Gene COMPARTMENTS Subcellular localization image for CMYA5 gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CMYA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031430 M band IEA --
GO:0043034 costamere IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with CMYA5: view

Pathways for CMYA5 Gene

SuperPathways for CMYA5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CMYA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014733 regulation of skeletal muscle adaptation IEA --
GO:0032513 negative regulation of protein phosphatase type 2B activity IEA --
GO:0070885 negative regulation of calcineurin-NFAT signaling cascade IEA --
genes like me logo Genes that share ontologies with CMYA5: view

No data available for Pathways by source for CMYA5 Gene

Transcripts for CMYA5 Gene

mRNA/cDNA for CMYA5 Gene

Unigene Clusters for CMYA5 Gene

Cardiomyopathy associated 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CMYA5 Gene

No ASD Table

Relevant External Links for CMYA5 Gene

GeneLoc Exon Structure for
CMYA5
ECgene alternative splicing isoforms for
CMYA5

Expression for CMYA5 Gene

mRNA expression in normal human tissues for CMYA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CMYA5 Gene

This gene is overexpressed in Muscle - Skeletal (35.3), Heart - Left Ventricle (8.9), and Heart - Atrial Appendage (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CMYA5 Gene

SOURCE GeneReport for Unigene cluster for CMYA5 Gene Hs.482625

mRNA Expression by UniProt/SwissProt for CMYA5 Gene

Q8N3K9-CMYA5_HUMAN
Tissue specificity: Expressed in skeletal muscle; at a strong level and in heart.
genes like me logo Genes that share expressions with CMYA5: view

Orthologs for CMYA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CMYA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CMYA5 36
  • 99.34 (n)
  • 98.62 (a)
CMYA5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CMYA5 37
  • 71 (a)
OneToOne
LOC533581 36
  • 79.79 (n)
  • 66.08 (a)
dog
(Canis familiaris)
Mammalia CMYA5 36
  • 82.9 (n)
  • 72.98 (a)
CMYA5 37
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cmya5 16
Cmya5 37
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CMYA5 37
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia oan-mir-7415 37
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves CMYA5 37
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMYA5 37
  • 39 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24353 36
tropical clawed frog
(Silurana tropicalis)
Amphibia cmya5 36
  • 58.92 (n)
  • 51.61 (a)
zebrafish
(Danio rerio)
Actinopterygii cmya5 37
  • 28 (a)
OneToMany
CMYA5 (2 of 2) 37
  • 23 (a)
OneToMany
Species with no ortholog for CMYA5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CMYA5 Gene

ENSEMBL:
Gene Tree for CMYA5 (if available)
TreeFam:
Gene Tree for CMYA5 (if available)

Paralogs for CMYA5 Gene

Paralogs for CMYA5 Gene

genes like me logo Genes that share paralogs with CMYA5: view

Variants for CMYA5 Gene

Sequence variations from dbSNP and Humsavar for CMYA5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs7343 -- 79,799,898(+) GAACC(A/G)AAAGA utr-variant-3-prime, nc-transcript-variant
rs10704 -- 79,783,456(+) ctgaa(C/T)gttgg intron-variant
rs66682 -- 79,797,437(-) TGTCA(C/T)TGCAA intron-variant
rs109894 -- 79,772,266(-) TAGCC(A/G)GCCCC intron-variant
rs168945 -- 79,779,836(-) ttcgc(A/C)accta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CMYA5 Gene

Variant ID Type Subtype PubMed ID
nsv830357 CNV Gain 17160897
nsv518412 CNV Loss 19592680
esv1002149 CNV Deletion 20482838
esv3406 CNV Deletion 18987735
esv2730356 CNV Deletion 23290073
esv2669424 CNV Deletion 23128226
esv996722 CNV Deletion 20482838
esv5704 CNV Loss 19470904
nsv327489 CNV Loss 16902084
esv2730357 CNV Deletion 23290073
esv2730358 CNV Deletion 23290073
esv7986 OTHER Inversion 19470904
esv2614623 CNV Deletion 19546169

Relevant External Links for CMYA5 Gene

HapMap Linkage Disequilibrium report
CMYA5

Disorders for CMYA5 Gene

(1) University of Copenhagen DISEASES for CMYA5 Gene

Relevant External Links for CMYA5

Genetic Association Database (GAD)
CMYA5
Human Genome Epidemiology (HuGE) Navigator
CMYA5
genes like me logo Genes that share disorders with CMYA5: view

No data available for UniProtKB/Swiss-Prot for CMYA5 Gene

Publications for CMYA5 Gene

  1. Myospryn is a novel binding partner for dysbindin in muscle. (PMID: 14688250) Benson M.A. … Blake D.J. (J. Biol. Chem. 2004) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin. (PMID: 17872945) Kouloumenta A. … Capetanaki Y. (J. Biol. Chem. 2007) 3 4
  4. Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension. (PMID: 18344630) Nakagami H. … Ogihara T. (Hypertens. Res. 2007) 3 49
  5. Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (PMID: 20634290) Sarparanta J. … Udd B. (J. Biol. Chem. 2010) 3 4

Products for CMYA5 Gene

Sources for CMYA5 Gene

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