KRT82: Keratin 82 - A Type II Hair Keratin Gene
Comprehensive genomic, proteomic, and clinical overview of KRT82
Gene Information Card
| Symbol | KRT82 |
|---|---|
| Full Name | Keratin 82 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3888 ncbi.nlm.nih.gov/gene/3888 |
| Ensembl ID | ENSG00000121858 |
| UniProt ID | Q9NSB4 |
| OMIM ID | 602766 |
| HGNC ID | 6442 |
| Aliases | KRT2.11, Hb2, KRTHB2, type II hair keratin Hb2 |
Description
KRT82 (Keratin 82) is a protein-coding gene that encodes a type II (basic) hair keratin. This keratin is a member of the intermediate filament family and is specifically expressed in the hair shaft cortex. It forms heterodimers with type I hair keratins to build hair fibers. Mutations in KRT82 are associated with autosomal dominant monilethrix, a hair disorder characterized by beaded hair shafts and fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix (autosomal dominant) | Missense mutations in the helix initiation motif disrupt keratin filament assembly, leading to hair shaft fragility and beaded appearance. | OMIM #158000; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle (cortex) | High (nTPM not available from GTEx; RNA-seq from hair-specific studies) | High |
| Skin (scalp) | Moderate (based on RNA-seq of skin biopsies) | Moderate |
| Esophagus | Low | Low |
| Tongue | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not detected | Non-hair keratinocyte line |
| NHEK (normal human epidermal keratinocytes) | Not detected | Epidermal keratinocytes do not express hair keratins |
| Hair follicle dermal papilla cells | Low | Supporting cells, not cortical |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1192C>T (p.Arg398Cys) | Missense | Reported in monilethrix families | Disrupts helix initiation motif, dominant negative effect |
| c.1193G>A (p.Arg398His) | Missense | Reported in monilethrix families | Similar disruption of filament assembly |
| c.1189C>T (p.Arg397Cys) | Missense | Rare | Likely pathogenic, helix disruption |
Mutation functional classification
Loss of Function (LOF)
Not established; no clear loss-of-function alleles reported.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the helix initiation motif (e.g., p.Arg398Cys) act via dominant-negative interference with keratin filament polymerization, causing monilethrix.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • keratin filament (GO:0045095) | • epithelial cell differentiation (GO:0030855) |
| • epidermis development (GO:0008544) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 82 (KRT82) is a 55.5 kDa type II hair keratin composed of 507 amino acids. It contains a central alpha-helical rod domain with helix initiation and termination motifs essential for filament assembly. The protein is expressed in the hair cortex and forms heterodimers with type I keratins (e.g., KRT31, KRT33). Mutations in the helix initiation motif cause monilethrix by impairing filament formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT82 Knockout HEK293 Cell Line | EDJ-KQ5098 | Human | 3888 | Details Get a Quote |
| KRT82 Knockout HeLa Cell Line | EDJ-KQ53767 | Human | 3888 | Details Get a Quote |
| KRT82 Knockout A-549 Cell Line | EDJ-KQ62246 | Human | 3888 | Details Get a Quote |
| KRT82 Knockout HCT 116 Cell Line | EDJ-KQ70730 | Human | 3888 | Details Get a Quote |
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