CRNN Gene - Cornulin
Comprehensive gene information for CRNN (cornulin), including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CRNN |
|---|---|
| Full Name | cornulin |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 49860 ncbi.nlm.nih.gov/gene/49860 |
| Ensembl ID | ENSG00000143546 |
| UniProt ID | Q9UBG3 |
| OMIM ID | 612956 |
| HGNC ID | 12305 |
| Aliases | C1orf10, DRC1, FLJ20313, MGC45416, SEP53 |
Description
The CRNN gene encodes cornulin, a protein involved in the cornification of squamous epithelium. It is primarily expressed in the upper layers of the epidermis and in esophageal epithelium. Cornulin may play a role in the barrier function of stratified squamous epithelia and has been implicated in inflammatory skin diseases and esophageal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Esophageal squamous cell carcinoma | Altered expression of CRNN may contribute to tumor progression; downregulation observed in cancer tissues. | NCBI Gene, COSMIC |
| Psoriasis | CRNN expression is upregulated in psoriatic skin lesions, suggesting involvement in epidermal hyperproliferation. | NCBI Gene, UniProt |
| Atopic dermatitis | Differential expression of CRNN in skin lesions indicates a role in barrier dysfunction. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Esophagus | 89.7 | High |
| Skin | 72.3 | High |
| Vagina | 45.1 | Medium |
| Cervix, uterine | 38.6 | Medium |
| Tongue | 30.2 | Medium |
| Lung | 5.4 | Low |
| Breast | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 120.5 | High expression in keratinocyte cell line |
| A431 (epidermoid carcinoma) | 95.3 | High expression |
| KYSE-30 (esophageal squamous cell carcinoma) | 78.9 | High expression |
| HeLa (cervical adenocarcinoma) | 12.4 | Low expression |
| MCF7 (breast adenocarcinoma) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown; rare variant |
| c.124C>T | missense | <0.01% | Unknown; rare variant |
| c.256G>A | missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CRNN.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CRNN.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in CRNN.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
Cornulin is a 495-amino acid protein with a molecular weight of approximately 53 kDa. It belongs to the fused-type S100 protein family and contains EF-hand calcium-binding domains. The protein is localized to the cytoplasm and is involved in the formation of the cornified envelope in stratified squamous epithelia. It is highly expressed in the esophagus and skin, and its expression is altered in certain cancers and inflammatory skin diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRNN Knockout HEK293 Cell Line | EDJ-KQ10655 | Human | 49860 | Details Get a Quote |
| CRNN Knockout HeLa Cell Line | EDJ-KQ56162 | Human | 49860 | Details Get a Quote |
| CRNN Knockout A-549 Cell Line | EDJ-KQ64651 | Human | 49860 | Details Get a Quote |
| CRNN Knockout HCT 116 Cell Line | EDJ-KQ73099 | Human | 49860 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
