Aliases for CMYA5 Gene
Aliases for CMYA5 Gene
External Ids for CMYA5 Gene
- HGNC: 14305
- Entrez Gene: 202333
- Ensembl: ENSG00000164309
- OMIM: 612193
- UniProtKB: Q8N3K9
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. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is FSD2.
UniProtKB/Swiss-Prot 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).
Additional gene information for CMYA5 Gene
- Monarch Initiative
- Search for CMYA5 at DataMed
- Search for CMYA5 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 dump
GeneHancers around CMYA5 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CMYA5 gene promoter:
Regulatory Element Products
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)
Genomic View for CMYA5 Gene
Genes around CMYA5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q14.1 by Ensembl
- 5q14.1 by Entrez Gene
- 5q14.1 by HGNC
CMYA5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CMYA5 Gene
Proteins for CMYA5 Gene
-
Protein details for CMYA5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N3K9-CMYA5_HUMAN
- Recommended name:
- Cardiomyopathy-associated protein 5
- Protein Accession:
- Q8N3K9
- 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 (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.
- 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; Positions=3283; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=AAQ09018.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH10406.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Protein Expression for CMYA5 Gene
Post-translational modifications for CMYA5 Gene
- Phosphorylated by PKA.
Other Protein References for CMYA5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
Q8N3K9UniProtKB/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.
Function for CMYA5 Gene
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).
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 23414517 |
Phenotypes for CMYA5 Gene
- GenomeRNAi human phenotypes for CMYA5:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for CMYA5 gene
-
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CRISPR Products
-
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Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for CMYA5 Gene
- miRTarBase miRNAs that target CMYA5
miRNA Products
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Inhibitory RNA Products
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for CMYA5
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CMYA5
- genomics-online: cdna clones - Search results for available CMYA5 gene related products
- orf clones - Search results for available CMYA5 gene related products
- Applied Biological Materials Clones for CMYA5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CMYA5
-
ViGene Biosciences adenoviral particle packaged cDNA for CMYA5 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CMYA5 gene
-
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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
- 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. Occasionally present at the M-band level. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0031430 | M band | IEA | -- |
| GO:0048471 | perinuclear region of cytoplasm | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CMYA5 Gene
Pathways & Interactions for CMYA5 Gene
No Data Available
Interacting Proteins for CMYA5 Gene
Selected Interacting proteins:
Q8N3K9-CMYA5_HUMAN
ENSP00000394770
for CMYA5 Gene via
IID
UniProtKB
STRING
No data available for Pathways by source and SIGNOR curated interactions for CMYA5 Gene
Transcripts for CMYA5 Gene
mRNA/cDNA for CMYA5 Gene
- (2) REFSEQ mRNAs :
- (26) Additional mRNA sequences :
- (163) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CMYA5 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CMYA5
- genomics-online: gRNA clones - Search results for available CMYA5 gene related products
- Applied Biological Materials CRISPR for CMYA5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CMYA5
- GenScript: Design CRISPR guide RNA sequences for CMYA5
miRNA Products
- Search ViGene Biosciences for CMYA5
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for CMYA5
- Browse OriGene Inhibitory RNA Products For CMYA5
- genomics-online: shRNA clones - Search results for available CMYA5 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CMYA5 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for CMYA5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CMYA5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CMYA5
- genomics-online: cdna clones - Search results for available CMYA5 gene related products
- orf clones - Search results for available CMYA5 gene related products
- Applied Biological Materials Clones for CMYA5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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).
This gene is overexpressed in Cerebrospinal fluid (65.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CMYA5 Gene
NURSA nuclear receptor signaling pathways regulating expression of CMYA5 Gene:
CMYA5SOURCE GeneReport for Unigene cluster for CMYA5 Gene:
Hs.482625mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for CMYA5
- genomics-online: primer clones - Search results for available CMYA5 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CMYA5 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CMYA5 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | LOC533581 33 |
|
||
| CMYA5 34 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Cmya5 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CMYA5 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | oan-mir-7415 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CMYA5 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CMYA5 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cmya5 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24353 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cmya5 34 |
|
OneToMany | |
| CMYA5 (2 of 2) 34 |
|
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)
Paralogs for CMYA5 Gene
Variants for CMYA5 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs61744879 | uncertain-significance, not provided | 79,758,776(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000011623 | -- | 79,720,369(+) | G/T | intron_variant | |
| rs1000071855 | -- | 79,722,036(+) | A/G/T | intron_variant | |
| rs1000080998 | -- | 79,771,369(+) | G/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000111830 | -- | 79,726,960(+) | G/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv956448 | CNV | deletion | 24416366 |
| nsv830357 | CNV | gain | 17160897 |
| nsv518412 | CNV | loss | 19592680 |
| nsv327489 | CNV | deletion | 16902084 |
| nsv1137012 | CNV | deletion | 24896259 |
| nsv1071719 | CNV | deletion | 25765185 |
| nsv1021113 | CNV | gain | 25217958 |
| esv996722 | CNV | deletion | 20482838 |
| esv7986 | OTHER | inversion | 19470904 |
| esv5704 | CNV | loss | 19470904 |
| esv3605548 | CNV | loss | 21293372 |
| esv3605547 | CNV | loss | 21293372 |
| esv3605545 | CNV | gain | 21293372 |
| esv3605544 | CNV | loss | 21293372 |
| esv3605535 | CNV | gain | 21293372 |
| esv3605534 | CNV | loss | 21293372 |
| esv3566155 | CNV | deletion | 23714750 |
| esv3406 | CNV | loss | 18987735 |
| esv3346060 | CNV | duplication | 20981092 |
| esv3339809 | OTHER | inversion | 20981092 |
| esv2730358 | CNV | deletion | 23290073 |
| esv2730357 | CNV | deletion | 23290073 |
| esv2730356 | CNV | deletion | 23290073 |
| esv2669424 | CNV | deletion | 23128226 |
| esv2614623 | CNV | deletion | 19546169 |
| esv1002149 | CNV | deletion | 20482838 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMYA5 Gene
Disorders for CMYA5 Gene
Additional Disease Information for CMYA5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for CMYA5 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CMYA5 Gene
Publications for CMYA5 Gene
- 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 58
- 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 58
- 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 44 58
- 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 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
Products for CMYA5 Gene
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- Invitrogen Antibodies for CMYA5
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- VectorBuilder custom plasmid, inducible vectors for CMYA5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CMYA5
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CMYA5
- antibodies-online: Search results for available CMYA5 related products ranked by validation data
- antibodies-online: Search results for available CMYA5 related products ranked by validation data
- antibodies-online: Search results for available CMYA5 related products ranked by validation data
- Search GeneTex for Antibodies for CMYA5
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- ViGene Biosciences adenoviral particle packaged cDNA for CMYA5 gene
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- genomics-online: cdna clones - Search results for available CMYA5 gene related products
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Sources for CMYA5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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