KRT28

Chr 17

keratin 28

Also known as: K25IRS4, KRT25D

NCBI Gene: 162605UniProt: Q7Z3Y7

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
3
Pubs (1 yr)
0.1
Missense Z
1.14
LOEUF
Clinical Summary— KRT28
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.14LOEUF
pLI 0.000
Z-score 1.07
OE 0.76 (0.52–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.11Z-score
OE missense 0.98 (0.89–1.09)
264 obs / 269.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.76 (0.52–1.14)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.98 (0.89–1.09)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 17 / 22.5Missense obs/exp: 264 / 269.2Syn Z: 0.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT28 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control epithelial differentiation
Chen GD et al.·Sci Adv
2023
Integration Analysis of Hair Follicle Transcriptome and Proteome Reveals the Mechanisms Regulating Wool Fiber Diameter in Angora Rabbits
Huang D et al.·Int J Mol Sci
2024Functional
Epigenome-wide association study of diabetic chronic kidney disease progression in the Korean population: the KNOW-CKD study
Sung HY et al.·Sci Rep
2023
Study on the expression patterns of inner root sheath-specific genes in Tan sheep hair follicle during different developmental stages.
Shi A et al.·Gene
2024
Understanding the early molecular changes associated with radiation therapy:A preliminary bulk RNA sequencing study
Miller A et al.·PLoS One
2025
Breast cancer prediction with transcriptome profiling using feature selection and machine learning methods
Taghizadeh E et al.·BMC Bioinformatics
2022
Integrated Meta-Analysis of Scalp Transcriptomics and Serum Proteomics Defines Alopecia Areata Subtypes and Core Disease Pathways.
Xi L et al.·Int J Mol Sci
2025
LncRNAs regulate the cyclic growth and development of hair follicles in Dorper sheep
Sun H et al.·Front Vet Sci
2023
A comparative proteomic-based study identifies essential factors involved in hair follicle growth in inner Mongolia cashmere goats
Nai R et al.·BMC Vet Res
2025
Top 9 full-text resultsSearch PubTator3 ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients