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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KRT2
keratin 2
Chromosome 12 Β· 12q13.13
NCBI Gene: 3849Ensembl: ENSG00000172867.4HGNC: HGNC:6439UniProt: P35908
188PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmextracellular exosomestructural constituent of skin epidermismembranesuperficial epidermolytic ichthyosisexfoliative ichthyosisgenetic disorderVertigo
✦AI Summary

KRT2 (keratin 2) is a type II keratin that plays essential roles in epidermal structure and barrier function. It forms heterodimers with type I keratin K10 to create intermediate filaments in suprabasal keratinocytes, serving as a key structural component of the cytoskeleton 1. KRT2 is particularly prominent in plantar skin epidermis, where it works alongside K10 to maintain mechanical resilience 1. The protein contributes to terminal cornification and is associated with keratinocyte activation, proliferation, and keratinization processes 2. Loss of KRT2 function leads to superficial epidermolytic ichthyosis, a keratinization disorder characterized by superficial blisters, erosions, and progressive hyperkeratosis 23. KRT2 mutations can cause ichthyosis bullosa of Siemens and have been identified in epidermolytic nevus 2. Clinical studies demonstrate that KRT2 downregulation occurs in various pathological conditions including gastric cancer tongue coating and vesicular hand eczema, indicating its importance in maintaining epithelial integrity 45. The protein has also emerged as a potential biomarker in psoriasis and chr12 periodontitis 67.

Sources cited
1
KRT2 forms heterodimers with K10 in suprabasal keratinocytes and is essential for plantar skin epidermal integrity
PMID: 26603179
2
KRT2 mutations cause superficial epidermolytic ichthyosis and epidermolytic nevus
PMID: 33081034
3
KRT2 mutations lead to superficial epidermolytic ichthyosis with characteristic clinical features
PMID: 26581228
4
KRT2 downregulation observed in gastric cancer patients' tongue coating
PMID: 38191439
5
KRT2 downregulation found in vesicular hand eczema indicating aberrant epidermal differentiation
PMID: 37857578
6
KRT2 identified as potential biomarker in psoriasis
PMID: 40598168
7
KRT2 identified as hub gene associated with chronic periodontitis
PMID: 36617795
Disease Associationsβ“˜21
superficial epidermolytic ichthyosisOpen Targets
0.81Strong
exfoliative ichthyosisOpen Targets
0.33Weak
genetic disorderOpen Targets
0.19Weak
VertigoOpen Targets
0.19Weak
Dowling-Degos diseaseOpen Targets
0.08Suggestive
erythrokeratodermia variabilisOpen Targets
0.08Suggestive
congenital non-bullous ichthyosiform erythrodermaOpen Targets
0.08Suggestive
lamellar ichthyosisOpen Targets
0.08Suggestive
focal palmoplantar and gingival keratodermaOpen Targets
0.07Suggestive
hyperpigmentation with or without hypopigmentation, familial progressiveOpen Targets
0.07Suggestive
familial reactive perforating collagenosisOpen Targets
0.07Suggestive
ichthyosis hystrix of Curth-MacklinOpen Targets
0.07Suggestive
hereditary palmoplantar keratoderma, Gamborg-Nielsen typeOpen Targets
0.07Suggestive
epidermolytic hyperkeratosis 2B, autosomal recessiveOpen Targets
0.07Suggestive
ichthyosis, congenital, autosomal recessive 14Open Targets
0.07Suggestive
epidermolysis bullosa simplex 2E, with migratory circinate erythemaOpen Targets
0.07Suggestive
Epidermolysis bullosa simplex with circinate migratory erythemaOpen Targets
0.07Suggestive
hyperkeratosis lenticularis perstansOpen Targets
0.07Suggestive
ichthyosis histrix, Lambert typeOpen Targets
0.07Suggestive
hyperkeratosis-hyperpigmentation syndromeOpen Targets
0.07Suggestive
Ichthyosis bullosa of SiemensUniProt
Pathogenic Variants11
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)Pathogenic
Exfoliative ichthyosis|Ichthyosis bullosa of Siemens|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 487
NM_000423.3(KRT2):c.1462G>A (p.Glu488Lys)Likely pathogenic
not provided|Ichthyosis bullosa of Siemens
β˜…β˜…β˜†β˜†2024β†’ Residue 488
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro)Likely pathogenic
Ichthyosis bullosa of Siemens
β˜…β˜†β˜†β˜†2025β†’ Residue 181
NM_000423.3(KRT2):c.557A>G (p.Asn186Ser)Likely pathogenic
Ichthyosis bullosa of Siemens
β˜…β˜†β˜†β˜†2024β†’ Residue 186
NM_000423.3(KRT2):c.1430T>A (p.Ile477Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 477
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys)Pathogenic
Ichthyosis bullosa of Siemens|not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 186
NM_000423.3(KRT2):c.556A>G (p.Asn186Asp)Pathogenic
Ichthyosis bullosa of Siemens
β˜†β˜†β˜†β˜†2000β†’ Residue 186
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr)Pathogenic
Ichthyosis bullosa of Siemens|not provided
β˜†β˜†β˜†β˜†1998β†’ Residue 186
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys)Pathogenic
Ichthyosis bullosa of Siemens|not provided
β˜†β˜†β˜†β˜†1998β†’ Residue 476
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro)Pathogenic
Ichthyosis bullosa of Siemens|not provided
β˜†β˜†β˜†β˜†1997β†’ Residue 479
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp)Pathogenic
Ichthyosis bullosa of Siemens|not provided
β˜†β˜†β˜†β˜†1994β†’ Residue 487
View on ClinVar β†—
Related Genes
KRT5Protein interaction87%LORICRINProtein interaction87%PRSS1Protein interaction79%SOAT2Protein interaction74%FLG2Protein interaction73%KRT77Protein interaction69%
Tissue Expression6 tissues
Liver
100%
Lung
80%
Bone Marrow
59%
Ovary
51%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KRT2KRT5LORICRINPRSS1SOAT2FLG2KRT77
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P35908
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.57–1.00]
RankingsWhere KRT2 stands among ~20K protein-coding genes
  • #2,280of 20,598
    Most Researched188 Β· top quartile
  • #2,737of 5,498
    Most Pathogenic Variants11
  • #9,651of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedKRT2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
In-depth metaproteomics analysis of tongue coating for gastric cancer: a multicenter diagnostic research study.
PMID: 38191439
Microbiome Β· 2024
1.00
2
First Case of
PMID: 33081034
Int J Mol Sci Β· 2020
0.90
3
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
PMID: 26581228
Acta Derm Venereol Β· 2016
0.80
4
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
PMID: 38741524
J Eur Acad Dermatol Venereol Β· 2025
0.72
5
Transcriptional differences between vesicular hand eczema and atopic dermatitis.
PMID: 37857578
Contact Dermatitis Β· 2024
0.70