Gene
POPDC2
popeye domain cAMP effector 2
- HGNC 17648↗(opens in a new tab)
- Ensembl gene ENSG00000121577↗(opens in a new tab)
- NCBI Gene 64091↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q13.33
- Coordinates
- Chromosome 3: 119,642,056–119,660,589 (GRCh38)
- Exons
- 4 exons across 18.5 kb
- Protein
- 368 amino acids
- Also known as
- POP2
- MANE Select transcript
- ENST00000493094.6NM_001369919.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Progressive Cardiac Conduction Disease & Sick Sinus Syndrome
- Cardiac Conduction Defect
A general term for disorders of electrical conduction in the heart, including inherited forms of atrioventricular block.
- 1 GenCC submitter rates it definitive or strong
How POPDC2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.8 kb of the gene's 18.5 kb; 1,107 of those bases code for the protein.
Genes linked to the same conditions
Traits linked to POPDC2
The Human Phenotype Ontology lists these as features of the rare conditions POPDC2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- First degree atrioventricular block
- Mobitz I atrioventricular block
- Palpitations
- 2:1 atrioventricular block
- Atrial flutter
- Enlarged and thickened heart muscle
- Fatty replacement of ventricular myocardial tissue
- Heart stops beating
Show 11 more traits
- Inflammation of heart muscle
- Monomorphic ventricular tachycardia
- Myocardial fibrosis
- Quivering upper heart chambers resulting in irregular heartbeat
- Second degree atrioventricular block
- Sinoatrial block
- Sinus bradycardia
- Ventricular septal hypertrophy
- Ventricular tachycardia
- Extra heart beat
- Left ventricular systolic dysfunction
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). POPDC2 gene: popeye domain cAMP effector 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/popdc2
Dante Labs. POPDC2 gene: popeye domain cAMP effector 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/popdc2
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