SPRR1B

Chr 1

small proline rich protein 1B

Also known as: CORNIFIN, GADD33, SPR-IB, SPRR1

NCBI Gene: 6699ENSG00000169469UniProt: P22528

The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.93
LOEUF
Multiple*
Mechanism· predicted
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?
1.93LOEUF
pLI 0.001
Z-score -0.76
OE 1.50 (0.64–1.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.64Z-score
OE missense 1.26 (1.02–1.57)
58 obs / 45.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.50 (0.64–1.93)
0≤0.351.4
Missense OE?1.26 (1.02–1.57)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 4 / 2.7Missense obs/exp: 58 / 45.9Syn Z: -0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPRR1B · 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