CMYA5 Gene (Protein Coding)

Cardiomyopathy Associated 5

GC05P079689
GIFtS:
33

Aliases for CMYA5 Gene

Aliases for CMYA5 Gene

  • Cardiomyopathy Associated 5 2 3 5
  • Genethonin-3 2 3 4
  • Myospryn 2 3 4
  • Tripartite Motif-Containing Protein 76 3 4
  • Cardiomyopathy-Associated Protein 5 3 4
  • SPRY Domain-Containing Protein 2 3 4
  • Dystrobrevin-Binding Protein 2 3 4
  • Tripartite Motif-Containing 76 2 3
  • C5orf10 3 4
  • SPRYD2 3 4
  • TRIM76 3 4
  • 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 Muscular Dystrophy and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is FSD2.

UniProtKB/Swiss-Prot Summary 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). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity).

Additional gene information for CMYA5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CMYA5 Gene

Genomics for CMYA5 Gene

GeneHancer (GH) Regulatory Elements for CMYA5 Gene

Promoters and enhancers for CMYA5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CMYA5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CMYA5

Top Transcription factor binding sites by QIAGEN in the CMYA5 gene promoter:
  • aMEF-2
  • MEF-2
  • MEF-2A

Genomic Locations for CMYA5 Gene

Genomic Locations for CMYA5 Gene
chr5:79,689,836-79,800,240
(GRCh38/hg38)
Size:
110,405 bases
Orientation:
Plus strand
chr5:78,985,659-79,096,063
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for CMYA5 Gene

Proteins for CMYA5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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. Interacts with ACTN2 and DTNBP1/dysbindin (By similarity). Interacts with DES (PubMed:17872945). Interacts with DMD/dystrophin (By similarity). Interacts with the calcineurin catalytic subunit PPP3CA (By similarity). Interacts with TTN (PubMed:20634290). Interacts with CAPN3; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis (PubMed:20634290). Interacts with FSD2 (By similarity). Identified in a complex composed of FSD2, CMYA5 and RYR2 (By similarity).
    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; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=AAQ09018.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10406.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for CMYA5 Gene

Protein Expression for CMYA5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Gene Families for CMYA5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CMYA5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CMYA5 Gene

GenScript: Design optimal peptide antigens:
  • Tripartite motif-containing protein 76 (CMYA5_HUMAN)

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.
genes like me logo Genes that share domains with CMYA5: view

Function for CMYA5 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity).
UniProtKB/Swiss-Prot Induction:
Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).

Phenotypes From GWAS Catalog for CMYA5 Gene

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

CRISPR Products

miRNA for CMYA5 Gene

miRTarBase miRNAs that target CMYA5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMYA5

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

Nucleus. Sarcoplasmic reticulum. 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 (By similarity). Occasionally present at the M-band level. Colocalized with RYR2 in the sarcoplasmic reticulum (By similarity). {ECO:0000250 UniProtKB:A0A286XF80}.

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 5
endoplasmic reticulum 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CMYA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0016529 sarcoplasmic reticulum ISS --
GO:0031430 M band IEA --
GO:0048471 perinuclear region of cytoplasm ISS --
genes like me logo Genes that share ontologies with CMYA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CMYA5 Gene

Pathways & Interactions for CMYA5 Gene

PathCards logo

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

Drugs & Compounds for CMYA5 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CMYA5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CMYA5 Gene

1 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMYA5

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

No ASD Table

Relevant External Links for CMYA5 Gene

GeneLoc Exon Structure for
CMYA5

Expression for CMYA5 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CMYA5 Gene

mRNA expression in normal human tissues for CMYA5 Gene
mRNA expression by GTEx for CMYA5 GenemRNA expression by BioGPS 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 and MOPED for CMYA5 Gene



Protein tissue co-expression partners for CMYA5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CMYA5 Gene

  • Muscle(4.8)
  • Liver(4.2)
  • Heart(3.3)
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 and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.34 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CMYA5 31 30
  • 82.9 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia LOC533581 30
  • 79.79 (n)
CMYA5 31
  • 71 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cmya5 31
  • 60 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CMYA5 31
  • 48 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia oan-mir-7415 31
  • 30 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CMYA5 31
  • 32 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CMYA5 31
  • 39 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cmya5 30
  • 58.92 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.24353 30
zebrafish
(Danio rerio)
 Actinopterygii cmya5 31
  • 28 (a)
 OneToMany
CMYA5 (2 of 2) 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CMYA5: view image

Paralogs for CMYA5 Gene

Paralogs for CMYA5 Gene

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

Variants for CMYA5 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CMYA5 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
708338 Benign: not provided 79,735,723(+) T/C MISSENSE_VARIANT
708563 Likely Benign: not provided 79,737,637(+) G/T MISSENSE_VARIANT
708769 Benign: not provided 79,736,244(+) G/T MISSENSE_VARIANT
708770 Benign: not provided 79,738,873(+) A/G MISSENSE_VARIANT
708771 Benign: not provided 79,739,321(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CMYA5 Gene

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
esv7986 OTHER inversion 19470904
esv996722 CNV deletion 20482838
nsv1021113 CNV gain 25217958
nsv1071719 CNV deletion 25765185
nsv1137012 CNV deletion 24896259
nsv327489 CNV deletion 16902084
nsv518412 CNV loss 19592680
nsv830357 CNV gain 17160897
nsv956448 CNV deletion 24416366

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)

Additional Variant Information for CMYA5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CMYA5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
muscular dystrophy
  • muscular dystrophies
autosomal recessive limb-girdle muscular dystrophy type 2j
  • muscular dystrophy, limb-girdle, type 2j
tibial muscular dystrophy
  • tibial muscular dystrophy, tardive
niemann-pick disease, type c1
  • npc1
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search CMYA5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CMYA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MA … Blake DJ (The Journal of biological chemistry 2004) 2 3 4 54
  2. Myospryn is a calcineurin-interacting protein that negatively modulates slow-fiber-type transformation and skeletal muscle regeneration. (PMID: 21427212) Kielbasa OM … Naya FJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011) 2 3 54
  3. Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (PMID: 20634290) Sarparanta J … Udd B (The Journal of biological chemistry 2010) 3 4 54
  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 (Hypertension research : official journal of the Japanese Society of Hypertension 2007) 3 41 54
  5. Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin. (PMID: 17872945) Kouloumenta A … Capetanaki Y (The Journal of biological chemistry 2007) 3 4 54

ExternalLinks

View latest publications for CMYA5 gene in Mastermind

Products for CMYA5 Gene

  • Addgene plasmids for CMYA5

Sources for CMYA5 Gene