SHARPIN

Chr 8

SHANK associated RH domain interactor

Also known as: AIFID, SIPL1

NCBI Gene: 81858ENSG00000179526UniProt: Q9H0F6

Enables polyubiquitin modification-dependent protein binding activity. Involved in defense response to bacterium; protein linear polyubiquitination; and regulation of signal transduction. Located in cytosol. Part of LUBAC complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAutoinflammation with episodic fever and immune dysregulation
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
GOF
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?
0.98LOEUF
pLI 0.000
Z-score 1.63
OE 0.58 (0.35–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.04Z-score
OE missense 1.01 (0.90–1.13)
215 obs / 213.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.58 (0.35–0.98)
0≤0.351.4
Missense OE?1.01 (0.90–1.13)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 10 / 17.3Missense obs/exp: 215 / 213.2Syn Z: -1.92

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SHARPIN · 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