KRT6B

Chr 12

keratin 6B

Also known as: CK-6B, CK6B, K6B, KRTL1, PC2, PC4

NCBI Gene: 3854ENSG00000185479UniProt: P04259

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPachyonychia congenita 4

Clinical highlights

Interpreting a novel variant
A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
DN*
Mechanism· G2P
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GeneReview available — KRT6B
Authoritative clinical overview · Recommended first read
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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?
1.27LOEUF
pLI 0.000
Z-score 0.66
OE 0.84 (0.57–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.23Z-score
OE missense 1.36 (1.25–1.47)
423 obs / 312.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.84 (0.57–1.27)
0≤0.351.4
Missense OE?1.36 (1.25–1.47)
0≤0.61.4
Synonymous OE?1.19
0≤1.21.6
LoF obs/exp: 16 / 19.1Missense obs/exp: 423 / 312.0Syn Z: -1.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT6B · 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.

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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