CIROP

Chr 14AR

ciliated left-right organizer metallopeptidase

Also known as: HTX12, LMLN2

NCBI Gene: 100128908 ENSG00000283654 UniProt: A0A1B0GTW7 OMIM: 619703

Predicted to enable peptidase activity. Predicted to be involved in establishment of left/right asymmetry. Predicted to be located in membrane. Predicted to be active in cytoplasm. Implicated in visceral heterotaxy 12. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Heterotaxy, visceral, 12, autosomalMIM #619702

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Heterotaxy, visceral, 12, autosomal; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

—

Mechanism

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CIROP?

gnomAD v4 · ~275k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

657 rare PASS variants

Rare truncating (LoF)

1 in 370

129 rare PASS variants

Rare synonymous (reference)

1 in 85

276 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CIROP. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~159k	1 in 68	1 in 380
South Asian	~31k	1 in 52	1 in 260
African / African American	~21k	1 in 44	1 in 390
European (Finnish)	~18k	1 in 250	1 in 1,200
Admixed American	~17k	1 in 49	1 in 290
East Asian	~16k	1 in 61	1 in 190
Remaining (unassigned)	~15k	1 in 42	1 in 520
Ashkenazi Jewish	~10k	1 in 360	1 in 690
Middle Eastern	~2,038	1 in 49	1 in 280

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 0 of 16 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4, 5 and 11 more poorly covered. Genomes: all 16.? see exons ↓