CIROP

protein-coding

ciliated left-right organizer metallopeptidase

Gene summary

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]

Previous symbols:

LMLN2

MANE transcript

NM_001354640.2

Inheritance

ClinVar variants

P:19U:6B:10

Top phenotype

Heterotaxy, visceral, 12, autosomal

Max pathogenic AF

—

Genomic locus

chr14:23,099,062-23,104,989

External References & Databases

Ensembl (ENSG00000283654)

NCBI Gene (100128908)

Transcript & Mutation Effects

hg38 • Region Span ~5.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

visceral heterotaxySTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0018677

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Heterotaxy, visceral, 12, autosomalAR

Manifestation: Cardiovascular; Gastrointestinal

Intervention: Cardiovascular

Rationale: The condition may involve congenital cardiac anomalies, and awareness may allow early diagnosis and interventions

Refs: 34903892

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CIROP variants in ClinVar

6 Conditions Cataloged

Heterotaxy, visceral, 12, autosomalTotal: 15

not providedTotal: 9

CIROP-related disorderTotal: 9

not specifiedTotal: 7

Trichothiodystrophy 1, photosensitiveTotal: 3

Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001354640.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				8 clinvar		8
missense	2 clinvar	3 clinvar	5 clinvar	2 clinvar		12
nonsense	3 clinvar	5 clinvar				8
start loss						0
frameshift		4 clinvar				4
splice donor/acceptor (+/-2bp)	1 clinvar	1 clinvar	1 clinvar			3
Total	6	13	6	10	0	35

Highest pathogenic variant AF is 0.00129024

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001354640.2	RefSeq	NP_001341569.1	16	MANE Select
ENST00000637218.2	Ensembl	ENSP00000489869.1	16	MANE Select
NM_001402427.1	RefSeq	NP_001389356.1	14	Standard
ENST00000642668.1	Ensembl	ENSP00000495729.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis
cell adhesion

Molecular Function

metalloendopeptidase activity
peptidase activity
metal ion binding

Cellular Component

cytoplasm
integral component of membrane

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Metalloprotease. {ECO:0000250|UniProtKB:Q9VH19}.;