CIROP (ciliated left-right organizer metallopeptidase)

Gene

• Entrez ID: 100128908
• Gene name: Ciliated left-right organizer metallopeptidase
• Gene symbol: CIROP
• Synonyms (NCBI Gene): HTX12, LMLN2
• Chromosome: 14
• Chromosome location: 14q11.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008233	Function	Peptidase activity	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061966	Process	Establishment of left/right asymmetry	ISS

Other IDs

• MIM: 619703
• HGNC: 53647
• e!Ensembl: ENSG00000283654

Protein

• UniProt ID: A0A1B0GTW7
• Protein name: Ciliated left-right organizer metallopeptidase (EC 3.4.24.-) (Leishmanolysin-like peptidase 2)
• Protein function: Putative metalloproteinase that plays a role in left-right patterning process.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01457	Peptidase_M8	249 → 606	Leishmanolysin	Family

• Sequence:

  MLLLLLLLLLLPPLVLRVAASRCLHDETQKSVSLLRPPFSQLPSKSRSSSLTLPSSRDPQ
  PLRIQSCYLGDHISDGAWDPEGEGMRGGSRALAAVREATQRIQAVLAVQGPLLLSRDPAQ
  YCHAVWGDPDSPNYHRCSLLNPGYKGESCLGAKIPDTHLRGYALWPEQGPPQLVQPDGPG
  VQNTDFLLYVRVAHTSKCHQETVSLCCPGWSTAAQSQLTAALTSWAQRRGFVMLPRLCLK
  LLGSSNLPTLASQSIRITGPSVIAYAACCQLDSEDRPLAGTIVYCAQHLTSPSLSHSDIV
  MATLHELLHALGFSGQLFKKWRDCPSGFSVRENCSTRQLVTRQDEWGQLLLTTPAVSLSL
  AKHLGVSGASLGVPLEEEEGLLSSHWEARLLQGSLMTATFDGAQRTRLDPITLAAFKDSG
  WYQVNHSAAEELLWGQGSGPEFGLVTTCGTGSSDFFCTGSGLGCHYLHLDKGSCSSDPML
  EGCRMYKPLANGSECWKKENGFPAGVDNPHGEIYHPQSRCFFANLTSQLLPGDKPRHPSL
  TPHLKEAELMGRCYLHQCTGRGAYKVQVEGSPWVPCLPGKVIQIPGYYGLLFCPRGRLCQ
  TNEDINAVTSPPVSLSTPDPLFQLSLELAGPPGHSLGKEQQEGLAEAVLEALASKGGTGR
  CYFHGPSITTSLVFTVHMWKSPGCQGPSVATLHKALTLTLQKKPLEVYHGGANFTTQPSK
  LLVTSDHNPSMTHLRLSMGLCLMLLILVGVMGTTAYQKRATLPVRPSASYHSPELHSTRV
  PVRGIREV

• Sequence length: 788

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Heterotaxy, visceral, 12, autosomal	Pathogenic; Likely pathogenic	rs1392604380, rs183023758, rs1014082266, rs2140282332, rs764530848, rs2503617333	RCV001822104 RCV001848591 RCV001822101 RCV001822103 RCV001822105 RCV002468854	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIROP-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS AMBIGUUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SITUS INVERSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations