Gene
CIROP
ciliated left-right organizer metallopeptidase
- HGNC 53647↗(opens in a new tab)
- Ensembl gene ENSG00000283654↗(opens in a new tab)
- NCBI Gene 100128908↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q11.2
- Coordinates
- Chromosome 14: 23,099,062–23,104,989 (GRCh38)
- Exons
- 16 exons across 5.9 kb
- Protein
- 788 amino acids
- Previous symbols
- LMLN2
- MANE Select transcript
- ENST00000637218.2NM_001354640.2
- 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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Heterotaxy & Laterality Defects
- Visceral Heterotaxy
Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.
How CIROP is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.7 kb of the gene's 5.9 kb; 2,367 of those bases code for the protein.
How a genome test reads CIROP
5
positions in CIROP where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 5.9 kb of CIROP, introns included, not only the 2.7 kb of exons.
Genes linked to the same conditions
- ACVR2Bactivin A receptor type 2BShares 1 condition
- CFAP53cilia and flagella associated protein 53Shares 1 condition
- CFC1cryptic, EGF-CFC family member 1Shares 1 condition
- DAW1dynein assembly factor with WD repeats 1Shares 1 condition
- GDF1growth differentiation factor 1Shares 1 condition
- MMP21matrix metallopeptidase 21Shares 1 condition
- MNS1meiosis specific nuclear structural 1Shares 1 condition
- NODALnodal growth differentiation factorShares 1 condition
- PKD1L1polycystin 1 like 1, transient receptor potential channel interactingShares 1 condition
- ZIC3Zic family zinc finger 3Shares 1 condition
Traits linked to CIROP
The Human Phenotype Ontology lists these as features of the rare conditions CIROP can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- All organs on wrong side of body
- Complete atrioventricular canal defect
- Double outlet right ventricle
- An opening in the wall separating the top two chambers of the heart
- Common atrium
- Discordant atrioventricular connection
- Heart tip and four chambers point towards right side of body
- Hole in heart wall separating two lower heart chambers
Show 16 more traits
- Left superior vena cava draining to coronary sinus
- Levotransposition of the great arteries
- Narrowing of pulmonic valve
- Patent ductus arteriosus
- Patent foramen ovale
- Pulmonary artery atresia
- Single ventricle
- Underdeveloped aortic arch
- Dextrotransposition of the great arteries
- Double aortic arch
- Double inlet right ventricle
- Narrowing of aorta
- Partial anomalous pulmonary venous return
- Right aortic arch
- Single coronary artery origin
- Underdeveloped left heart
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.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- 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.). CIROP gene: ciliated left-right organizer metallopeptidase. Retrieved 17 October 2026, from https://dantelabs.com/genes/cirop
Dante Labs. CIROP gene: ciliated left-right organizer metallopeptidase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cirop
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