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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CMYA5 Gene

protein-coding   GIFtS: 45
GCID: GC05P079067

cardiomyopathy associated 5

(Previous name: chromosome 5 open reading frame 10 )
(Previous symbol: C5orf10)
 Explore 6 diseases affiliated with
CMYA5 via our new
 Human Malady Compendium 
Biological research products
for CMYA5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cardiomyopathy Associated 51 2     Chromosome 5 Open Reading Frame 101
TRIM761 2 3 5     2310076E16Rik2
C5orf101 2 3     Cardiomyopathy-Associated Protein 52
SPRYD21 2 3     Genethonin-33
Myospryn3     Tripartite Motif-Containing 762
Dystrobrevin-Binding Protein 22 3     DTNBP23
Tripartite Motif-Containing Protein 762 3     Genethonin-33
SPRY Domain-Containing Protein 22 3     Myospryn3
DKFZp451G2231     MYOSPRYN5

External Ids:    HGNC: 143051   Entrez Gene: 2023332   Ensembl: ENSG000001643097   OMIM: 6121935   UniProtKB: Q8N3K93   

Export aliases for CMYA5 gene to outside databases

Previous GC identifers: GC05U990183 GC05P079070 GC05P079116 GC05P079108 GC05P074193


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CMYA5_HUMAN, Q8N3K9
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CMYA5 gene promoter:
         MEF-2A   MEF-2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCMYA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CMYA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CMYA5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q14.1   Ensembl cytogenetic band:  5q14.1   HGNC cytogenetic band: 5q14.1

CMYA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMYA5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P079067:  view genomic region     (about GC identifiers)

Start:
78,985,659 bp from pter      End:
79,096,063 bp from pter
Size:
110,405 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CMYA5_HUMAN, Q8N3K9 (See protein sequence)
Recommended Name: Cardiomyopathy-associated protein 5  
Size: 4069 amino acids; 449211 Da
Subunit: 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
Subcellular location: Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). 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
Sequence caution: Sequence=AAD55265.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence; Sequence=AAH20856.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAH22422.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAH62664.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAH63134.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAI11530.1; Type=Erroneous termination; Positions=3283; Note=Translated as Trp; Sequence=AAQ09018.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH10406.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Secondary accessions: A0PJB7 Q05CT4 Q2NKX1 Q2T9G9 Q69YQ8 Q69YQ9 Q6P517 Q6P5U3 Q7Z4I1 Q86T34 Q86T49
Q8N3S4 Q8N3S7 Q8NAG8 Q9UK88

Explore the universe of human proteins at neXtProt for CMYA5: NX_Q8N3K9

Post-translational modifications:

  • Phosphorylated by PKA (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N3K9

  • CMYA5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_705838.3  
    ENSEMBL proteins: 
     ENSP00000394770  

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    Uscn Proteins for CMYA5

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031430M band IEA--
    GO:0043034costamere IEA--
    GO:0048471perinuclear region of cytoplasm IEA--


    CMYA5 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CMYA5 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR001870 B30.2/SPRY
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003877 SPRY_rcpt
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry Q8N3K9

    ProtoNet protein and cluster: Q8N3K9

    UniProtKB/Swiss-Prot: CMYA5_HUMAN, Q8N3K9
    Domain: Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction
    between myospryn and PRKAR2A
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 2 fibronectin type-III domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CMYA5_HUMAN, Q8N3K9
    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)
    Induction: Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD)

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042802identical protein binding IEA--


    CMYA5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CMYA5:
     Increased G1 DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CMYA5

    5/6 Interacting proteins for CMYA5 (Q8N3K91, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BZW1Q7L1Q63I2D: score=2 
    DTNBP1Q96EV83I2D: score=2 
    PSMC4P436863I2D: score=2 
    SIRT1Q96EB63I2D: score=2 
    SIRT3Q9NTG73I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014733regulation of skeletal muscle adaptation IEA--
    GO:0032513negative regulation of protein phosphatase type 2B activity IEA--
    GO:0070885negative regulation of calcineurin-NFAT signaling cascade IEA--


    CMYA5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CMYA5
    Search CenterWatch for drugs/clinical trials and news about CMYA5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CMYA5 gene: 
    NM_153610.3  

    Unigene Cluster for CMYA5:

    Cardiomyopathy associated 5
    Hs.482625  [show with all ESTs]
    Unigene Representative Sequence: NM_153610
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446378(uc003kgc.3) ENST00000506603 ENST00000505466

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    Additional cDNA sequence: 

    AF177292.1 AF533705.1 AK092699.1 AK096453.1 AK123466.1 AL359338.1 AL831966.1 AL831968.2 
    AL831986.1 AL832021.1 AL832347.1 AL832368.1 AL832376.1 AL834252.2 BC020856.1 BC022422.1 
    BC022430.1 BC029434.1 BC046215.1 BC062664.1 BC063134.1 BC111529.2 BC111530.2 BX647452.1 
    BX647628.1 BX647646.1 

    8 DOTS entries:

    DT.92029296  DT.215389  DT.100793011  DT.95132537  DT.101985043  DT.40271100  DT.120849560  DT.100027469 

    24/163 AceView cDNA sequences (see all 163):

    CF552029 BX499817 C05212 CB215026 AF533705 BC020856 AX747677 AA131264 
    AK092699 AA194359 CF552765 BX501504 BX951693 AA195812 BC022422 BC022430 
    BC046215 AL359338 AL834252 AA112831 CA389134 AL832376 AA180290 BG430932 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CMYA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CMYA5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CMYA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CMYA5

    SOURCE GeneReport for Unigene cluster: Hs.482625

    UniProtKB/Swiss-Prot: CMYA5_HUMAN, Q8N3K9
    Tissue specificity: Expressed in skeletal muscle; at a strong level and in heart

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CMYA5 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cmya51 , 5 cardiomyopathy associated 51, 5 56.91(n)1
    46.39(a)1
      13 (47.81 cM)5
    764691  NM_023821.31  NP_076310.21 
     930407135 
    chicken
    (Gallus gallus)
    Aves CMYA51 cardiomyopathy associated 5 46.82(n)
    32.12(a)
      427177  XM_424765.3  XP_424765.3 
    lizard
    (Anolis carolinensis)
    Reptilia CMYA56
    --
    40(a)
    1 ↔ 1
    2(12625044-12683358)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.243532 Xenopus laevis transcribed sequence with weak similarity more 75.07(n)    CB198077.2 
    zebrafish
    (Danio rerio)
    Actinopterygii cmya51 cardiomyopathy associated 5 50.35(n)
    38.97(a)
      560687  NM_001079985.2  NP_001073454.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CMYA5 gene
    FSD22  SPRYD42  

    CMYA5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2123 NCBI SNPs in CMYA5 are shown (see all 2123    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs764621111,2
    --78983700(+) AATGGC/ATACCT 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1904466091,2
    --78983729(+) TAACAC/GATTGC 1 -- us2k10--------
    rs1833958901,2
    --78983809(+) AGCTGA/GTGTTA 1 -- us2k10--------
    rs1997956341,2
    --78983818(+) AAGAG-/AATAATAA 1 -- us2k10--------
    rs612829661,2
    C--78983823(+) AATAA-/TAAATATT 1 -- us2k10--------
    rs1407023691,2
    --78983832(+) TTGCTA/GATGCT 1 -- us2k10--------
    rs1124442671,2
    C,--78983859(+) GCTGTG/AGAAGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1889060461,2
    --78983941(+) GTTCAC/TTACCT 1 -- us2k10--------
    rs1384351321,2
    --78983953(+) CAGACA/GTAATG 1 -- us2k10--------
    rs1413577721,2
    --78984002(+) GCTTAC/TAGTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CMYA5 (78985659 - 79096063 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for CMYA5
         1 CNV: 99181
         3 Indels: 12706 41886 62391
         1 Inversion: 59813

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CMYA5 for disorders           About GeneDecksing

    OMIM gene information: 612193    OMIM disorders: --

    6 diseases for CMYA5:    About MalaCards
    limb-girdle muscular dystrophy    cardiomyopathy    duchenne muscular dystrophy    muscular dystrophy
    hypertension    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for CMYA5:
    Duchenne muscular dystrophy
    Human Genome Epidemiology (HuGE) Navigator: CMYA5 (2 documents)

    Export disorders for CMYA5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CMYA5 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with CMYA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myospryn is a novel binding partner for dysbindin in muscle. (PubMed id 14688250)1, 2, 3 Benson M.A....Blake D.J. (2004)
    2. Interactions with M-band titin and calpain 3 link myo spryn (CMYA5) to tibial and limb-girdle muscular dystrophies. (PubMed id 20634290)1, 2 Sarparanta J....Udd B. (2010)
    3. Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin. (PubMed id 17872945)1, 2 Kouloumenta A.... Capetanaki Y. (2007)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    6. GWA study data mining and independent replication iden tify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. (PubMed id 20838396)1 Chen X.... . (2011)
    7. A common variant of the cardiomyopathy associated 5 g ene (CMYA5) is associated with schizophrenia in Chinese population. (PubMed id 21295948)1 Li M....Shi X.D. (2011)
    8. Identification and characterization of proteins inter acting with SIRT1 and SIRT3: implications in the anti-aging and metabolic effec ts of sirtuins. (PubMed id 19343720)1 Law I.K....Wang Y. (2009)
    9. Biology of myospryn: what's known? (PubMed id 19140017)1 Sarparanta J. (2008)
    10. Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension. (PubMed id 18344630)1 Nakagami H....Ogihara T. (2007)

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    Entrez Gene: 202333 HGNC: 14305 AceView: CMYA5 Ensembl:ENSG00000164309 euGenes: HUgn202333
    ECgene: CMYA5 H-InvDB: CMYA5

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