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CMYA5 cardiomyopathy associated 5 [ Homo sapiens (human) ]

Gene ID: 202333, updated on 1-Mar-2024

Summary

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; negative regulation of phosphoprotein phosphatase activity; and regulation of skeletal muscle adaptation. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart (RPKM 66.0), ovary (RPKM 8.5) and 3 other tissues See more
Orthologs
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Genomic context

See CMYA5 in Genome Data Viewer
Location:
5q14.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (79689836..79800222)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (80173613..80284146)
105.20220307 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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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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_153610.5NP_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:37193802
    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:38974059
    SPRY_PRY_TRIM76; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76), also called cardiomyopathy-associated protein 5
    cl23765
    Location:35463670
    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_2023_10

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_047416911.1XP_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_054352009.1XP_054207984.1  cardiomyopathy-associated protein 5 isoform X2

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

RNA

  1. XR_008487095.1 RNA Sequence