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Aliases for CMYA5 Gene

Aliases for CMYA5 Gene

  • Cardiomyopathy Associated 5 2 3 5
  • Genethonin-3 2 3 4
  • 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
  • Myospryn 3 4
  • C5orf10 3 4
  • SPRYD2 3 4
  • TRIM76 3 4
  • Cardiomyopathy-Associated Protein 5 3
  • Chromosome 5 Open Reading Frame 10 2
  • 2310076E16Rik 3
  • DTNBP2 4

External Ids for CMYA5 Gene

Previous HGNC Symbols for CMYA5 Gene

  • C5orf10

Previous GeneCards Identifiers for CMYA5 Gene

  • GC05U990183
  • GC05P079070
  • GC05P079116
  • GC05P079108
  • GC05P079067
  • GC05P074193

Summaries for CMYA5 Gene

GeneCards Summary for CMYA5 Gene

CMYA5 (Cardiomyopathy Associated 5) is a Protein Coding gene. Diseases associated with CMYA5 include Duchenne Muscular Dystrophy and Skeletal Muscle Regeneration. 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

Regulatory Elements for CMYA5 Gene

Enhancers for CMYA5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F079696 1.3 FANTOM5 Ensembl ENCODE 16.7 +8.6 8617 3.5 PKNOX1 ATF1 TAL1 ZNF175 ZKSCAN1 CCNT2 NCOR1 CREM MTA2 RNF2 CMYA5 THBS4 GC05M079729
GH05F079560 1.3 FANTOM5 Ensembl ENCODE 14.8 -128.5 -128462 1.3 IRF2 PKNOX1 HLF CEBPB ZNF175 JUNB CBX5 PBX2 TRIM24 IRF1 CMYA5 HOMER1 ENSG00000250258 THBS4 CTD-2201I18.1 PAPD4 ENSG00000277818 LOC105379047
GH05F079694 0.9 FANTOM5 ENCODE 14.3 +5.0 5011 0.2 TAL1 ARID1B ZNF316 HMBOX1 MLLT1 PRDM10 EMSY MAFK CMYA5 THBS4 GC05M079729
GH05F079754 0.9 ENCODE 10.7 +65.3 65262 2.0 RAD21 RARA YY1 MIXL1 NR2F2 KAT8 NFIL3 MIER3 ZNF341 CEBPA CMYA5 ENSG00000250258 GC05P079745 LOC102724557
GH05F079562 0.9 Ensembl ENCODE 10.1 -127.2 -127177 0.3 SP3 FEZF1 EBF1 ZEB2 ZNF843 ZNF2 ZNF24 KLF8 HOMER1 CMYA5 ENSG00000250258 THBS4 CTD-2201I18.1 ENSG00000277818 LOC105379047
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CMYA5 on UCSC Golden Path with GeneCards custom track

Promoters for CMYA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001870863 165 1600 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for CMYA5 Gene

Chromosome:
5
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

Genes around CMYA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CMYA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CMYA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for CMYA5 Gene

Protein Domains for CMYA5 Gene

Suggested Antigen Peptide Sequences for CMYA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N3K9

UniProtKB/Swiss-Prot:

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

Animal Model Products

miRNA for CMYA5 Gene

miRTarBase miRNAs that target CMYA5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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. Occasionally present at the M-band level. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CMYA5 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for CMYA5 Gene

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

Pathways & Interactions for CMYA5 Gene

SuperPathways for CMYA5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CMYA5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CMYA5 Gene

Transcripts for CMYA5 Gene

Unigene Clusters for CMYA5 Gene

Cardiomyopathy associated 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for CMYA5 Gene

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

This gene is overexpressed in Muscle - Skeletal (x35.3), Heart - Left Ventricle (x8.9), and Heart - Atrial Appendage (x5.0).

Protein differential expression in normal tissues from HIPED for CMYA5 Gene

This gene is overexpressed in Cerebrospinal fluid (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CMYA5 Gene



Protein tissue co-expression partners for CMYA5 Gene

NURSA nuclear receptor signaling pathways regulating expression of CMYA5 Gene:

CMYA5

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 expression patterns with CMYA5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CMYA5 Gene

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 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia CMYA5 34 35
  • 82.9 (n)
cow
(Bos Taurus)
Mammalia LOC533581 34
  • 79.79 (n)
CMYA5 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cmya5 35
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CMYA5 35
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia oan-mir-7415 35
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves CMYA5 35
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CMYA5 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cmya5 34
  • 58.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24353 34
zebrafish
(Danio rerio)
Actinopterygii cmya5 35
  • 28 (a)
OneToMany
CMYA5 (2 of 2) 35
  • 23 (a)
OneToMany
Species where no ortholog for CMYA5 was found in the sources mined by GeneCards:
  • 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
rs10043986 -- 79,799,594(+) GCCCC(C/T)GGATT nc-transcript-variant, reference, missense
rs10052867 -- 79,791,080(+) TAGAA(A/G)AAGAA intron-variant
rs10066595 -- 79,790,459(+) agaga(C/T)ggggt intron-variant
rs10067460 -- 79,786,549(+) TCTAC(A/T)GCAAA intron-variant
rs10068526 -- 79,791,241(+) CCTAC(C/T)GAGCG intron-variant

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

Variant ID Type Subtype PubMed ID
esv1002149 CNV deletion 20482838
esv2614623 CNV deletion 19546169
esv2669424 CNV deletion 23128226
esv2730356 CNV deletion 23290073
esv2730357 CNV deletion 23290073
esv2730358 CNV deletion 23290073
esv3339809 OTHER inversion 20981092
esv3346060 CNV duplication 20981092
esv3406 CNV loss 18987735
esv3566155 CNV deletion 23714750
esv3605534 CNV loss 21293372
esv3605535 CNV gain 21293372
esv3605544 CNV loss 21293372
esv3605545 CNV gain 21293372
esv3605547 CNV loss 21293372
esv3605548 CNV loss 21293372
esv5704 CNV loss 19470904
nsv956448 CNV deletion 24416366
nsv830357 CNV gain 17160897
nsv518412 CNV loss 19592680
nsv327489 CNV deletion 16902084
nsv1137012 CNV deletion 24896259
nsv1071719 CNV deletion 25765185
nsv1021113 CNV gain 25217958
esv996722 CNV deletion 20482838
esv7986 OTHER inversion 19470904

Variation tolerance for CMYA5 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 31.15; 99.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CMYA5 Gene

Human Gene Mutation Database (HGMD)
CMYA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CMYA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMYA5 Gene

Disorders for CMYA5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CMYA5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
duchenne muscular dystrophy
  • muscular dystrophy, duchenne type
skeletal muscle regeneration
  • nonaka myopathy
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search CMYA5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CMYA5

Genetic Association Database (GAD)
CMYA5
Human Genome Epidemiology (HuGE) Navigator
CMYA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CMYA5
genes like me logo Genes that share disorders with CMYA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 64
  2. 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 64
  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 64
  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 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CMYA5 Gene

Sources for CMYA5 Gene

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