U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CMYA5 cardiomyopathy associated 5 [ Homo sapiens (human) ]

Gene ID: 202333, updated on 3-Nov-2024

Summary

Go to the top of the page Help
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, Nov 2024]
Expression
Biased expression in heart (RPKM 66.0), ovary (RPKM 8.5) and 3 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. Genetic analysis of common variants in the CMYA5 (cardiomyopathy-associated 5) gene with schizophrenia. Zhang R, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2013 Oct 1. PMID 23778016
  3. The cardiomyopathy-associated 5 (CMYA5) gene and risk of schizophrenia: meta-analysis of rs3828611 and rs4704591 in East Asian populations. Watanabe Y, et al. Asian J Psychiatr, 2014 Feb. PMID 24524722
  4. 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
  5. A common variant of the cardiomyopathy associated 5 gene (CMYA5) is associated with schizophrenia in Chinese population. Li M, et al. Schizophr Res, 2011 Jul. PMID 21295948

See all (43) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools