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CMYA5 cardiomyopathy associated 5 [ Homo sapiens (human) ]

Gene ID: 202333, updated on 5-Aug-2018
Official Symbol
CMYA5provided by HGNC
Official Full Name
cardiomyopathy associated 5provided by HGNC
Primary source
HGNC:HGNC:14305
See related
Ensembl:ENSG00000164309 MIM:612193; Vega:OTTHUMG00000162548
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
Expression
Biased expression in heart (RPKM 66.0), ovary (RPKM 8.5) and 3 other tissues See more
Orthologs
See CMYA5 in Genome Data Viewer
Location:
5q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (79689339..79800226)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78985659..79096049)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379047 Neighboring gene terminal nucleotidyltransferase 2 Neighboring gene uncharacterized LOC102724557 Neighboring gene uncharacterized LOC105379048 Neighboring gene long intergenic non-protein coding RNA 1455

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.
NHGRI GWA Catalog
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp451G182, DKFZp451G223

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
M band IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
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

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_153610.4NP_705838.3  cardiomyopathy-associated protein 5

    See identical proteins and their annotated locations for NP_705838.3

    Status: VALIDATED

    Source sequence(s)
    AC008496, AC109488, AL832368, AL834252, BC020856, KF457927
    Consensus CDS
    CCDS47238.1
    UniProtKB/Swiss-Prot
    Q8N3K9
    Related
    ENSP00000394770.2, OTTHUMP00000222299, ENST00000446378.2, OTTHUMT00000369497
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    79689339..79800226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009212.1XP_016864701.1  cardiomyopathy-associated protein 5 isoform X1

RNA

  1. XR_948242.2 RNA Sequence

  2. XR_001742036.2 RNA Sequence

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