HRNR (Hornerin)
A member of the S100 fused-type protein family involved in epidermal barrier function and skin differentiation.
Gene Information Card
| Symbol | HRNR |
|---|---|
| Full Name | Hornerin |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 388697 ncbi.nlm.nih.gov/gene/388697 |
| Ensembl ID | ENSG00000197912 |
| UniProt ID | Q86YZ3 |
| OMIM ID | 616293 |
| HGNC ID | 33716 |
| Aliases | S100A18, hornerin |
Description
HRNR encodes hornerin, a member of the S100 fused-type protein family (SFTP). It is expressed in the granular layer of the epidermis and plays a role in keratinocyte differentiation, cornification, and maintenance of the skin barrier. Hornerin contains EF-hand calcium-binding domains and a glutamine/lysine-rich region involved in transglutaminase crosslinking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atopic dermatitis | Altered expression of hornerin may compromise epidermal barrier function, contributing to skin inflammation and allergen penetration. | ClinVar, NCBI Gene |
| Psoriasis | Dysregulation of hornerin expression is observed in psoriatic skin, potentially affecting keratinocyte differentiation and barrier integrity. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 112.3 | High |
| Esophagus | 10.2 | Low |
| Oral mucosa | 8.5 | Low |
| Vagina | 6.1 | Low |
| Tonsil | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 45.0 | High expression in immortalized keratinocytes |
| A431 (epidermoid carcinoma) | 30.2 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, likely loss of function |
| c.205C>T (p.Arg69Cys) | Missense | Rare | Unknown effect; located in EF-hand domain |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in HRNR are predicted to impair epidermal barrier integrity, though specific variants are not well characterized.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • keratinocyte differentiation (GO:0030216) |
| • keratinization (GO:0031424) | • keratin filament (GO:0045095) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
Hornerin is a 285-amino acid protein with two EF-hand calcium-binding domains and a central repeat region rich in glutamine and lysine residues. It localizes to the cytoplasm and plasma membrane of keratinocytes and is crosslinked by transglutaminases during cornification. Hornerin contributes to the mechanical strength and barrier function of the stratum corneum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HRNR Knockout HEK293 Cell Line | EDJ-KQ11212 | Human | 388697 | Details Get a Quote |
| HRNR Knockout HeLa Cell Line | EDJ-KQ60045 | Human | 388697 | Details Get a Quote |
| HRNR Knockout A-549 Cell Line | EDJ-KQ68508 | Human | 388697 | Details Get a Quote |
| HRNR Knockout HCT 116 Cell Line | EDJ-KQ76883 | Human | 388697 | Details Get a Quote |
