CRISPLD2 Gene - Cysteine Rich Secretory Protein LCCL Domain Containing 2
Comprehensive genomic and functional analysis of CRISPLD2, a gene implicated in lung development, craniofacial morphogenesis, and cleft lip/palate susceptibility.
Gene Information Card
| Symbol | CRISPLD2 |
|---|---|
| Full Name | cysteine rich secretory protein LCCL domain containing 2 |
| Gene Type | protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 83716 ncbi.nlm.nih.gov/gene/83716 |
| Ensembl ID | ENSG00000103196 |
| UniProt ID | Q9H0B8 |
| OMIM ID | 612918 |
| HGNC ID | 25248 |
| Aliases | CRISP11, LCRISP2, dJ337O18.2 |
Description
CRISPLD2 (cysteine rich secretory protein LCCL domain containing 2) is a protein-coding gene located on chromosome 16q24.1. It encodes a secreted protein containing a cysteine-rich secretory protein (CRISP) domain and an LCCL (Limulus factor C, Cochlin, Lgl1) domain. The protein is involved in lung development, craniofacial morphogenesis, and immune modulation. Variants in CRISPLD2 have been associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) and may influence susceptibility to asthma and otitis media.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cleft lip with or without cleft palate (non-syndromic) | Altered protein function affecting craniofacial development; missense variants may disrupt LCCL domain interactions | OMIM #612918; multiple case-control studies (PMID: 19800070, 20436472) |
| Asthma (susceptibility) | Regulation of airway inflammation and remodeling; expression in lung epithelium modulates TGF-β signaling | GWAS and functional studies (PMID: 21804548, 26073755) |
| Otitis media (susceptibility) | Impaired mucociliary clearance and immune response in middle ear | Association studies (PMID: 21804548) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 18.5 | High |
| Trachea | 15.2 | High |
| Salivary gland | 12.1 | Medium |
| Thyroid | 8.9 | Medium |
| Esophagus | 7.3 | Medium |
| Skin | 5.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 22.4 | High expression |
| HepG2 (hepatocellular carcinoma) | 6.7 | Moderate expression |
| HeLa (cervical adenocarcinoma) | 4.2 | Low expression |
| K562 (chronic myelogenous leukemia) | 1.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000G>A (p.Gly334Ser) | missense | 0.2% in East Asian populations | Associated with NSCL/P; may alter LCCL domain folding |
| c.1543C>T (p.Arg515Cys) | missense | Rare (<0.1%) | Reported in cleft lip/palate cases; functional impact unknown |
| c.1867G>A (p.Val623Ile) | missense | 0.5% in European populations | Benign/likely benign per ClinVar |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce protein secretion or disrupt LCCL domain function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CRISPLD2.
Dominant Negative (DN)
Not reported; mechanism unclear.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • extracellular space |
| • protein binding | • cysteine-type endopeptidase inhibitor activity |
| • negative regulation of cell proliferation | • lung development |
| • craniofacial development | • immune response |
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-170834)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
The CRISPLD2 protein (UniProt Q9H0B8) is a secreted glycoprotein of 786 amino acids. It contains an N-terminal signal peptide, a CRISP domain, and a C-terminal LCCL domain. The LCCL domain is implicated in protein-protein interactions and immune modulation. CRISPLD2 is expressed in lung, trachea, and salivary glands, and is thought to play roles in branching morphogenesis, extracellular matrix remodeling, and regulation of TGF-β signaling. Its exact molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRISPLD2 Knockout HEK293 Cell Line | EDJ-KQ2738 | Human | 83716 | Details Get a Quote |
| CRISPLD2 Knockout A-549 Cell Line | EDJ-KQ25000 | Human | 83716 | Details Get a Quote |
| CRISPLD2 Knockout HCT 116 Cell Line | EDJ-KQ25002 | Human | 83716 | Details Get a Quote |
| CRISPLD2 Knockout HeLa Cell Line | EDJ-KQ25003 | Human | 83716 | Details Get a Quote |
