POPDC3 (popeye domain cAMP effector 3)

Gene

• Entrez ID: 64208
• Gene name: Popeye domain cAMP effector 3
• Gene symbol: POPDC3
• Synonyms (NCBI Gene): LGMDR26, POP3, bA355M14.1
• Chromosome: 6
• Chromosome location: 6q21
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0007507	Process	Heart development	IBA
GO:0007519	Process	Skeletal muscle tissue development	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10882522
GO:0030552	Function	CAMP binding	IBA
GO:0030552	Function	CAMP binding	IEA
GO:0030552	Function	CAMP binding	ISS
GO:0042383	Component	Sarcolemma	IBA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0051146	Process	Striated muscle cell differentiation	IBA

Other IDs

• MIM: 605824
• HGNC: 17649
• e!Ensembl: ENSG00000132429

Protein

• UniProt ID: Q9HBV1
• Protein name: Popeye domain-containing protein 3 (Popeye protein 3)
• Protein function: May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding. May play a role in the regulation of KCNK2/TREK-1-mediated current amplitude (PubMed:31610034). {ECO:0000250|UniProtKB:Q9ES81, ECO:0000269|Pub
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04831	Popeye	25 → 249	Popeye protein conserved region	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in skeletal muscle (at protein level) (PubMed:10882522, PubMed:31610034). Also detected in heart (PubMed:10882522). {ECO:0000269|PubMed:10882522, ECO:0000269|PubMed:31610034}.
• Sequence:

  MERNSSLWKNLIDEHPVCTTWKQEAEGAIYHLASILFVVGFMGGSGFFGLLYVFSLLGLG
  FLCSAVWAWVDVCAADIFSWNFVLFVICFMQFVHIAYQVRSITFAREFQVLYSSLFQPLG
  ISLPVFRTIALSSEVVTLEKEHCYAMQGKTSIDKLSLLVSGRIRVTVDGEFLHYIFPLQF
  LDSPEWDSLRPTEEGIFQVTLTAETDCRYVSWRRKKLYLLFAQHRYISRLFSVLIGSDIA
  DKLYALNDRVYIGKRYHYDIRLPNFYQMSTPEIRRSPLTQHFQNSRRYCDK

• Sequence length: 291

Pathways

KEGG:

cAMP signaling pathway
Adrenergic signaling in cardiomyocytes

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Muscular dystrophy, limb-girdle, autosomal recessive 26	Pathogenic	rs2533591502, rs113419658, rs1478322852, rs1437210856, rs1311819000, rs1054547392	RCV004006203 RCV004006204 RCV004006205 RCV001078197 RCV001078198 RCV001078199	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-GIRDLE MUSCULAR DYSTROPHY AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POPDC3-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Associate	37813278	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	22654436	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Associate	34069715	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Inhibit	22654436	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	34432380	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	22654436	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	21690554, 34069715	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22654436, 37813278	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Inhibit	22654436, 34069715	★☆☆☆☆ Found in Text Mining only