Gene
POPDC3
popeye domain cAMP effector 3
- HGNC 17649↗(opens in a new tab)
- Ensembl gene ENSG00000132429↗(opens in a new tab)
- NCBI Gene 64208↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q21
- Coordinates
- Chromosome 6: 105,157,900–105,180,014 (GRCh38)
- Exons
- 4 exons across 22.1 kb
- Protein
- 291 amino acids
- Also known as
- POP3, MGC22671, bA355M14.1
- MANE Select transcript
- ENST00000254765.4NM_022361.5
- 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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Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
How POPDC3 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 1.9 kb of the gene's 22.1 kb; 876 of those bases code for the protein.
Genes linked to the same conditions
- ANO5anoctamin 5Shares 1 condition
- CAPN3calpain 3Shares 1 condition
- COL6A1collagen type VI alpha 1 chainShares 1 condition
- COL6A2collagen type VI alpha 2 chainShares 1 condition
- COL6A3collagen type VI alpha 3 chainShares 1 condition
- DAG1dystroglycan 1Shares 1 condition
- DNAJB6DnaJ heat shock protein family (Hsp40) member B6Shares 1 condition
- DYSFdysferlinShares 1 condition
- FKRPfukutin related proteinShares 1 condition
- FKTNfukutinShares 1 condition
- GMPPBGDP-mannose pyrophosphorylase BShares 1 condition
- HMGCR3-hydroxy-3-methylglutaryl-CoA reductaseShares 1 condition
Traits linked to POPDC3
The Human Phenotype Ontology lists these as features of the rare conditions POPDC3 can cause. Each trait's page lists the other genes linked to it.
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.). POPDC3 gene: popeye domain cAMP effector 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/popdc3
Dante Labs. POPDC3 gene: popeye domain cAMP effector 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/popdc3
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