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    CMYA5 cardiomyopathy associated 5 [ Homo sapiens (human) ]

    Gene ID: 202333, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CMYA5provided by HGNC
    Official Full Name
    cardiomyopathy associated 5provided by HGNC
    Primary source
    HGNC:HGNC:14305
    See related
    Ensembl:ENSG00000164309 MIM:612193; AllianceGenome:HGNC:14305
    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
    SPRYD2; TRIM76; C5orf10
    Summary
    Predicted to enable identical protein binding activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in heart (RPKM 66.0), ovary (RPKM 8.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CMYA5 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (79689836..79800222)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (80173613..80284146)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78985659..79096045)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901014 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:78907869-78909068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:78925303-78925804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:78925805-78926304 Neighboring gene terminal nucleotidyltransferase 2 Neighboring gene NANOG hESC enhancer GRCh37_chr5:78968175-78968748 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:78985169-78985670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79065865-79066605 Neighboring gene OCT4 hESC enhancer GRCh37_chr5:79067050-79067551 Neighboring gene uncharacterized LOC102724557 Neighboring gene uncharacterized LOC105379048 Neighboring gene long intergenic non-protein coding RNA 1455

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. Chen X, et al. Mol Psychiatry, 2011 Nov. PMID 20838396, Free PMC Article
    2. Association between CMYA5 gene polymorphisms and risk of schizophrenia in Uygur population and a meta-analysis. Han S, et al. Early Interv Psychiatry, 2018 Feb. PMID 26403435
    3. Updated meta-analysis of CMYA5 rs3828611 and rs4704591 with schizophrenia in Asian populations. Hoya S, et al. Early Interv Psychiatry, 2018 Oct. PMID 28776924
    4. An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population. Furukawa M, et al. Psychiatr Genet, 2013 Aug. PMID 23528614
    5. The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population. Wang Q, et al. World J Biol Psychiatry, 2014 Sep. PMID 24988482

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. association between CMYA5 gene polymorphisms and schizophrenia was confirmed in Asian population.
      Title: Association between CMYA5 gene polymorphisms and risk of schizophrenia in Uygur population and a meta-analysis.
    2. meta-analysis did not provide evidence supporting a contribution of CMYA5 rs3828611 and rs4704591 to schizophrenia susceptibility in Asian populations.
      Title: Updated meta-analysis of CMYA5 rs3828611 and rs4704591 with schizophrenia in Asian populations.
    3. The results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of left ventricular dysfunction (LVD), while TTN 18 bp I/D, TNNT2 5 bp I/D and myospryn K2906N polymorphisms did not show any significant association with LVD.
      Title: Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction.
    4. Specific alleles and haplotype in the CMYA5 confer genetic risk for both schizophrenia and major depressive disorder in the Han Chinese population.
      Title: The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population.
    5. meta-analysis confirming association of CMYA5 polymorphisms and schizophrenia in East Asian population.
      Title: The cardiomyopathy-associated 5 (CMYA5) gene and risk of schizophrenia: meta-analysis of rs3828611 and rs4704591 in East Asian populations.
    6. Association of cardiomyopathy-associated 5 (CMYA5) gene of Schizophrenia, is reported.
      Title: An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population.
    7. In a Han Chinese sample of schizophrenic patients, SNPs within CMYA5 were associated with the disorder.
      Title: Genetic analysis of common variants in the CMYA5 (cardiomyopathy-associated 5) gene with schizophrenia.
    8. CMYA5 is a new potential substrate of Kcna3 in human heart
      Title: CMYA5: a new potential substrate of Kcna3 in human heart.
    9. 2 SNPS in CYMA5, rs4704591 & rs10043986, are significantly associated with schizophrenia. Haplotype conditioned analyses indicated that the association signals observed at these two markers are independent.
      Title: GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia.
    10. This study demonstrated that the association between CMYA5 and schizophrenia in Han Chinese.
      Title: A common variant of the cardiomyopathy associated 5 gene (CMYA5) is associated with schizophrenia in Chinese population.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.
    EBI GWAS Catalog
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp451G182, DKFZp451G223

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in M band IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cardiomyopathy-associated protein 5
    Names
    2310076E16Rik
    SPRY domain-containing protein 2
    dystrobrevin-binding protein 2
    genethonin-3
    myospryn
    tripartite motif-containing 76
    tripartite motif-containing protein 76

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_153610.5 → NP_705838.3  cardiomyopathy-associated protein 5

      See identical proteins and their annotated locations for NP_705838.3

      Status: VALIDATED

      Source sequence(s)
      AC008496, AC109488, AL834252, BC020856, KF457927
      Consensus CDS
      CCDS47238.1
      UniProtKB/Swiss-Prot
      A0PJB7, Q05CT4, Q2NKX1, Q2T9G9, Q69YQ8, Q69YQ9, Q6P517, Q6P5U3, Q7Z4I1, Q86T34, Q86T49, Q8N3K9, Q8N3S4, Q8N3S7, Q8NAG8, Q9UK88
      Related
      ENSP00000394770.2, ENST00000446378.3
      Conserved Domains (3) summary
      cd00063
      Location:3719 → 3802
      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 ...
      cd12898
      Location:3897 → 4059
      SPRY_PRY_TRIM76; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76), also called cardiomyopathy-associated protein 5
      cl23765
      Location:3546 → 3670
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      79689836..79800222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416911.1 → XP_047272867.1  cardiomyopathy-associated protein 5 isoform X1

    RNA

    1. XR_001742036.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      80173613..80284146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352009.1 → XP_054207984.1  cardiomyopathy-associated protein 5 isoform X2

    2. XM_054352010.1 → XP_054207985.1  cardiomyopathy-associated protein 5 isoform X1

    RNA

    1. XR_008487095.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3K9.3 GenPept UniProtKB/Swiss-Prot:Q8N3K9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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