KRT85

Chr 12

keratin 85

NCBI Gene: 3891ENSG00000135443UniProt: P78386

Structural component of intermediate filaments in the hair follicle (PubMed:16525032). As a type II hair keratin, participates in the formation of keratin intermediate filament networks by forming obligate heterodimers with type I hair keratins (PubMed:16525032). Expressed at early stages of hair differentiation in matrix cells and later in cuticle-forming cells, where it contributes to the structural integrity and mechanical resilience of the hair shaft (PubMed:16525032)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEctodermal dysplasia 4, hair/nail type

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.23
OE 0.52 (0.34–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.39Z-score
OE missense 0.94 (0.85–1.03)
302 obs / 321.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.34–0.83)
0≤0.351.4
Missense OE?0.94 (0.85–1.03)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 13 / 25.0Missense obs/exp: 302 / 321.9Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT85 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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