CIROP

ciliated left-right organizer metallopeptidase

Basic information

Region (hg38): 14:23099062-23104989

Previous symbols: [ "LMLN2" ]

Links

∙ NCBI:100128908 ∙ OMIM:619703 ∙ HGNC:53647 ∙ Uniprot:A0A1B0GTW7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Heterotaxy, visceral, 12, autosomal	AR	Cardiovascular	The condition may involve congenital cardiac anomalies, and awareness may allow early diagnosis and interventions	Cardiovascular; Gastrointestinal	34903892

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CIROP gene.

Heterotaxy,_visceral,_12,_autosomal (10 variants)
not_provided (5 variants)
Trichothiodystrophy_1,_photosensitive (3 variants)
CIROP-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIROP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001354640.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense	2 clinvar	2 clinvar	2 clinvar	1 clinvar		7
nonsense	2 clinvar	1 clinvar				3
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)	1 clinvar		1 clinvar			2
Total	5	4	3	3	0

Highest pathogenic variant AF is 0.00129024

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Mouse Genome Informatics

Gene name: Gm29776
Phenotype

Gene ontology

Biological process: proteolysis;cell adhesion
Cellular component: cytoplasm;integral component of membrane
Molecular function: metalloendopeptidase activity;peptidase activity;metal ion binding