KRT2: Keratin 2
Structural protein gene associated with ichthyosis and epidermolytic hyperkeratosis
Gene Information Card
| Symbol | KRT2 |
|---|---|
| Full Name | Keratin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3849 ncbi.nlm.nih.gov/gene/3849 |
| Ensembl ID | ENSG00000172818 |
| UniProt ID | P35908 |
| OMIM ID | 600194 |
| HGNC ID | 6442 |
| Aliases | KRT2E, KRT2A, K2e, K2-10, cytokeratin 2e |
Description
KRT2 encodes keratin 2, a type II (basic) cytokeratin expressed in the suprabasal layers of the epidermis. Keratin 2 heteropolymerizes with keratin 10 to form intermediate filaments essential for mechanical integrity of keratinocytes. Mutations in KRT2 cause ichthyosis bullosa of Siemens, a rare autosomal dominant skin disorder characterized by superficial blistering and hyperkeratosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ichthyosis bullosa of Siemens | Dominant-negative mutations in KRT2 disrupt keratin filament assembly, leading to fragility of the upper epidermis. | ClinVar, OMIM |
| Epidermolytic hyperkeratosis (mild variant) | Mutations in the helix initiation motif cause keratin filament clumping and cell lysis in suprabasal layers. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 78.5 | High |
| Esophagus | 12.3 | Medium |
| Oral mucosa | 8.9 | Low |
| Vagina | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 85.2 | High expression |
| NHEK (normal human epidermal keratinocytes) | 92.0 | Highest expression |
| A431 (epidermoid carcinoma) | 45.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.143T>C (p.Leu48Pro) | Missense | Rare | Dominant-negative; disrupts helix initiation motif |
| c.497A>G (p.Glu166Gly) | Missense | Rare | Causes ichthyosis bullosa of Siemens |
| c.1648G>A (p.Glu550Lys) | Missense | Rare | Associated with mild epidermolytic hyperkeratosis |
Mutation functional classification
Loss of Function (LOF)
Not reported; KRT2 null alleles are not pathogenic in heterozygotes.
Gain of Function (GOF)
Not applicable; KRT2 mutations act via dominant-negative interference.
Dominant Negative (DN)
Primary mechanism: mutant keratin 2 incorporates into filaments and disrupts normal assembly, causing cell fragility.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • keratinocyte differentiation (GO:0030216) | • keratin filament (GO:0045095) |
| • epidermis development (GO:0008544) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 2 is a 639-amino acid type II keratin with a central alpha-helical rod domain flanked by non-helical head and tail domains. It forms obligate heteropolymers with type I keratins (mainly K10) to build intermediate filaments in differentiated keratinocytes. The protein provides mechanical resilience to the epidermis and is a marker of suprabasal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT28 Knockout HEK293 Cell Line | EDJ-KQ2228 | Human | 162605 | Details Get a Quote |
| KRT26 Knockout HEK293 Cell Line | EDJ-KQ2427 | Human | 353288 | Details Get a Quote |
| KRT20 Knockout HEK293 Cell Line | EDJ-KQ3237 | Human | 54474 | Details Get a Quote |
| KRT2 Knockout HEK293 Cell Line | EDJ-KQ4306 | Human | 3849 | Details Get a Quote |
| KRT23 Knockout HEK293 Cell Line | EDJ-KQ8339 | Human | 25984 | Details Get a Quote |
| KRT222 Knockout HEK293 Cell Line | EDJ-KQ8740 | Human | 125113 | Details Get a Quote |
| KRT25 Knockout HEK293 Cell Line | EDJ-KQ10563 | Human | 147183 | Details Get a Quote |
| KRT24 Knockout HEK293 Cell Line | EDJ-KQ13975 | Human | 192666 | Details Get a Quote |
| KRT27 Knockout HEK293 Cell Line | EDJ-KQ13976 | Human | 342574 | Details Get a Quote |
| KRT222 Knockout A-549 Cell Line | EDJ-KQ34987 | Human | 125113 | Details Get a Quote |
| KRT20 Knockout HCT 116 Cell Line | EDJ-KQ24749 | Human | 54474 | Details Get a Quote |
| KRT222 Knockout HCT 116 Cell Line | EDJ-KQ33725 | Human | 125113 | Details Get a Quote |
| KRT23 Knockout HCT 116 Cell Line | EDJ-KQ34348 | Human | 25984 | Details Get a Quote |
| KRT2 Knockout HeLa Cell Line | EDJ-KQ53753 | Human | 3849 | Details Get a Quote |
| KRT23 Knockout HeLa Cell Line | EDJ-KQ55858 | Human | 25984 | Details Get a Quote |
Displaying Records 1 To 15 Of 36 Records
- 1
- 2
- Next Page »
