• Gene id: 64091

Gene Summary

• Gene Symbol: POPDC2   Gene   UCSC   Ensembl
• Aliases: POP2
• Gene name: popeye domain containing 2
• Alternate names: popeye domain-containing protein 2, popeye protein 2,
• Gene location: 3q13.33 (119660589: 119642051)     Exons: 5     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [
• OMIM: 605823

Protein Summary

• Protein general information: Q9HBU9  
  • Name: Popeye domain containing protein 2 (Popeye protein 2)
  • Length: 364  
  • Mass: 40448
  • Tissue specificity: Expressed predominantly in the heart and in the skeletal muscle. {ECO
• Sequence:

  MSANSSRVGQLLLQGSACIRWKQDVEGAVYHLANCLLLLGFMGGSGVYGCFYLFGFLSAGYLCCVLWGWFSACGL
  DIVLWSFLLAVVCLLQLAHLVYRLREDTLPEEFDLLYKTLCLPLQVPLQTYKEIVHCCEEQVLTLATEQTYAVEG
  ETPINRLSLLLSGRVRVSQDGQFLHYIFPYQFMDSPEWESLQPSEEGVFQVTLTAETSCSYISWPRKSLHLLLTK
  ERYISCLFSALLGYDISEKLYTLNDKLFAKFGLRFDIRLPSLYHVLGPTAADAGPESEKGDEEVCEPAVSPPQAT
  PTSLQQTPPCSTPPATTNFPAPPTRARLSRPDSGILASRIPLQSYSQVISRGQAPLAPTHTPEL

• Structural information:
  • Interpro: IPR018490  IPR006916  
  • STRING: ENSP00000264231
• Other Databases: GeneCards:  POPDC2  Malacards:  POPDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051146	striated muscle cell differentiation	IBA	biological process
GO:0007507	heart development	IBA	biological process
GO:0007519	skeletal muscle tissue development	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0030552	cAMP binding	IBA	molecular function
GO:0042383	sarcolemma	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0042383	sarcolemma	IDA	cellular component
GO:0002027	regulation of heart rate	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)