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CIROP ciliated left-right organizer metallopeptidase [ Homo sapiens (human) ]

Gene ID: 100128908, updated on 2-Nov-2024

Summary

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Official Symbol
CIROPprovided by HGNC
Official Full Name
ciliated left-right organizer metallopeptidaseprovided by HGNC
Primary source
HGNC:HGNC:53647
See related
Ensembl:ENSG00000283654 MIM:619703; AllianceGenome:HGNC:53647
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTX12; LMLN2
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. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See CIROP in Genome Data Viewer
Location:
14q11.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23099062..23104989, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17299696..17305634, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23568271..23574198, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene collagen alpha-2(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5601 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:23530845-23532044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23537671-23538195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8160 Neighboring gene apoptotic chromatin condensation inducer 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8161 Neighboring gene uncharacterized LOC124903288 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:23547601-23548800 Neighboring gene hESC enhancers GRCh37_chr14:23564101-23564624 and GRCh37_chr14:23564625-23565148 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene Sharpr-MPRA regulatory region 2207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23583091-23583809 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:23583975-23585174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23589263-23589793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23592799-23593298 Neighboring gene CCAAT enhancer binding protein epsilon Neighboring gene solute carrier family 7 member 8 Neighboring gene Sharpr-MPRA regulatory region 2117 Neighboring gene RNA, U6 small nuclear 1138, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Szenker-Ravi E, et al. Nat Genet, 2022 Jan. PMID 34903892
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
    Title: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Heterotaxy, visceral, 12, autosomal
MedGen: C5676898 OMIM: 619702 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of left/right asymmetry ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ciliated left-right organizer metallopeptidase
Names
leishmanolysin homolog
leishmanolysin like peptidase 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001354640.2 → NP_001341569.1  ciliated left-right organizer metallopeptidase isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AL117258
    Consensus CDS
    CCDS86373.1
    UniProtKB/Swiss-Prot
    A0A1B0GTW7, A0A2R8Y3T5
    Related
    ENSP00000489869.1, ENST00000637218.2
    Conserved Domains (1) summary
    cl19482
    Location:254 → 602
    Peptidase_M8; Leishmanolysin

  2. NM_001402427.1 → NP_001389356.1  ciliated left-right organizer metallopeptidase isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AL117258
    Related
    ENSP00000493582.1, ENST00000644000.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    23099062..23104989 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17299696..17305634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001402357.1: Suppressed sequence

    Description
    NM_001402357.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GTW7.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GTW7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials