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

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	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	37813278	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22654436	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	34069715	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22654436	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19893039		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20627872, 22654436		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	31610034		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34432380	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22654436		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	28224269, 30250520		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19893039		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	23048207		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31612055		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20627872, 22654436		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22654436, 34069715	Inhibit	★☆☆☆☆ Found in Text Mining only