• Gene id: 64208

Gene Summary

• Gene Symbol: POPDC3   Gene   UCSC   Ensembl
• Aliases: LGMDR26, POP3, bA355M14.1
• Gene name: popeye domain containing 3
• Alternate names: popeye domain-containing protein 3, popeye protein 3,
• Gene location: 6q21 (83817836: 83739420)     Exons: 16     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced trans
• OMIM: 605824

Protein Summary

• Protein general information: Q9HBV1  
  • Name: Popeye domain containing protein 3 (Popeye protein 3)
  • Length: 291  
  • Mass: 33870
  • Tissue specificity: Expressed predominantly in skeletal muscle and detected in heart. {ECO
• Sequence:

  MERNSSLWKNLIDEHPVCTTWKQEAEGAIYHLASILFVVGFMGGSGFFGLLYVFSLLGLGFLCSAVWAWVDVCAA
  DIFSWNFVLFVICFMQFVHIAYQVRSITFAREFQVLYSSLFQPLGISLPVFRTIALSSEVVTLEKEHCYAMQGKT
  SIDKLSLLVSGRIRVTVDGEFLHYIFPLQFLDSPEWDSLRPTEEGIFQVTLTAETDCRYVSWRRKKLYLLFAQHR
  YISRLFSVLIGSDIADKLYALNDRVYIGKRYHYDIRLPNFYQMSTPEIRRSPLTQHFQNSRRYCDK

• Structural information:
  • Interpro: IPR018490  IPR006916  
  • STRING: ENSP00000254765
• Other Databases: GeneCards:  POPDC3  Malacards:  POPDC3

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0051146	striated muscle cell differentiation	IBA	biological process
GO:0030552	cAMP binding	ISS	molecular function
GO:0042391	regulation of membrane potential	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030552	cAMP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0030552	cAMP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray