Format

Send to:

Choose Destination

CMYA5 cardiomyopathy associated 5 [ Homo sapiens (human) ]

Gene ID: 202333, updated on 8-Nov-2020

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
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

Genomic context

See CMYA5 in Genome Data Viewer
Location:
5q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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

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

Associated conditions

Description Tests
Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians.
GeneReviews: Not available
Genome-wide association study of selenium concentrations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
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)

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
    Q8N3K9
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 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

Support Center