Human Gene CMYA5 (ENST00000446378.3) from GENCODE V44
  Description: Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. (from RefSeq NM_153610)
Gencode Transcript: ENST00000446378.3
Gencode Gene: ENSG00000164309.15
Transcript (Including UTRs)
   Position: hg38 chr5:79,689,836-79,800,222 Size: 110,387 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr5:79,689,908-79,799,616 Size: 109,709 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:79,689,836-79,800,222)mRNA (may differ from genome)Protein (4069 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CMYA5_HUMAN
DESCRIPTION: RecName: Full=Cardiomyopathy-associated protein 5; AltName: Full=Dystrobrevin-binding protein 2; AltName: Full=Genethonin-3; AltName: Full=Myospryn; AltName: Full=SPRY domain-containing protein 2; AltName: Full=Tripartite motif-containing protein 76;
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).
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.
INTERACTION: O75923:DYSF; NbExp=3; IntAct=EBI-2323272, EBI-2799016;
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.
TISSUE SPECIFICITY: Expressed in skeletal muscle; at a strong level and in heart.
INDUCTION: Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).
DOMAIN: Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction between myospryn and PRKAR2A.
PTM: Phosphorylated by PKA (By similarity).
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 2 fibronectin type-III domains.
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;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CMYA5
Diseases sorted by gene-association score: duchenne muscular dystrophy (11), skeletal muscle regeneration (10), cardiomyopathy (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 409.68 RPKM in Muscle - Skeletal
Total median expression: 694.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.1072-0.446 Picture PostScript Text
3' UTR -136.00606-0.224 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001870 - B30.2/SPRY
IPR008985 - ConA-like_lec_gl_sf
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR003877 - SPRY_rcpt

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00622 - SPRY domain

ModBase Predicted Comparative 3D Structure on Q8N3K9
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Cellular Component:
GO:0005737 cytoplasm
GO:0031430 M band
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC020856 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:4288081), partial cds.
AL832376 - Homo sapiens mRNA; cDNA DKFZp451I127 (from clone DKFZp451I127).
AL832347 - Homo sapiens mRNA; cDNA DKFZp451A076 (from clone DKFZp451A076).
LF209859 - JP 2014500723-A/17362: Polycomb-Associated Non-Coding RNAs.
MA445436 - JP 2018138019-A/17362: Polycomb-Associated Non-Coding RNAs.
LF332249 - JP 2014500723-A/139752: Polycomb-Associated Non-Coding RNAs.
MA567826 - JP 2018138019-A/139752: Polycomb-Associated Non-Coding RNAs.
LF332248 - JP 2014500723-A/139751: Polycomb-Associated Non-Coding RNAs.
MA567825 - JP 2018138019-A/139751: Polycomb-Associated Non-Coding RNAs.
LF332247 - JP 2014500723-A/139750: Polycomb-Associated Non-Coding RNAs.
MA567824 - JP 2018138019-A/139750: Polycomb-Associated Non-Coding RNAs.
AK092699 - Homo sapiens cDNA FLJ35380 fis, clone SKMUS2007315.
AX747677 - Sequence 1202 from Patent EP1308459.
BX647452 - Homo sapiens mRNA; cDNA DKFZp451I147 (from clone DKFZp451I147).
AK096453 - Homo sapiens cDNA FLJ39134 fis, clone NTONG2008862, highly similar to Homo sapiens genethonin 3 mRNA.
BC022422 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:4247527), partial cds.
AF177292 - Homo sapiens genethonin 3 mRNA, partial cds.
BC063134 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:4246623), partial cds.
BC022430 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:4271552), partial cds.
BC046215 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:6195053).
AL832021 - Homo sapiens mRNA; cDNA DKFZp451H244 (from clone DKFZp451H244).
BC029434 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:4291703), partial cds.
BC062664 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:3934146), partial cds.
AL831966 - Homo sapiens mRNA; cDNA DKFZp451G182 (from clone DKFZp451G182).
AL834252 - Homo sapiens mRNA; cDNA DKFZp451A043 (from clone DKFZp451A043).
JD228281 - Sequence 209305 from Patent EP1572962.
BX647628 - Homo sapiens mRNA; cDNA DKFZp451G037 (from clone DKFZp451G037).
BX647646 - Homo sapiens mRNA; cDNA DKFZp451G027 (from clone DKFZp451G027).
JD347653 - Sequence 328677 from Patent EP1572962.
AL832368 - Homo sapiens mRNA; cDNA DKFZp451A047 (from clone DKFZp451A047).
AK123466 - Homo sapiens cDNA FLJ41472 fis, clone BRTHA2000855.
BC111529 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:40009093), complete cds.
BC111530 - Homo sapiens cardiomyopathy associated 5, mRNA (cDNA clone IMAGE:40009094), partial cds.
AF533705 - Homo sapiens tissue-type breast unknown protein mRNA, complete cds.
AL831986 - Homo sapiens mRNA; cDNA DKFZp451G223 (from clone DKFZp451G223).
AL831968 - Homo sapiens mRNA; cDNA DKFZp451P132 (from clone DKFZp451P132).
AL359338 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2068071.
JD304971 - Sequence 285995 from Patent EP1572962.
JD046159 - Sequence 27183 from Patent EP1572962.
JD151988 - Sequence 133012 from Patent EP1572962.
JD090459 - Sequence 71483 from Patent EP1572962.
JD509968 - Sequence 490992 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0PJB7, C5orf10, CMYA5_HUMAN, DTNBP2, ENST00000446378.1, ENST00000446378.2, NM_153610, Q05CT4, Q2NKX1, Q2T9G9, Q69YQ8, Q69YQ9, Q6P517, Q6P5U3, Q7Z4I1, Q86T34, Q86T49, Q8N3K9, Q8N3S4, Q8N3S7, Q8NAG8, Q9UK88, SPRYD2, TRIM76, uc003kgc.1, uc003kgc.2, uc003kgc.3, uc003kgc.4, uc003kgc.5
UCSC ID: ENST00000446378.3
RefSeq Accession: NM_153610
Protein: Q8N3K9 (aka CMYA5_HUMAN)
CCDS: CCDS47238.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.