SPRED2

Chr 2

sprouty related EVH1 domain containing 2

Also known as: NS14, Spred-2

NCBI Gene: 200734ENSG00000198369UniProt: Q7Z698

SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNoonan syndrome 14
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
LOEUF
DN
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?
1.07LOEUF
pLI 0.000
Z-score 1.33
OE 0.67 (0.44–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.31Z-score
OE missense 0.79 (0.71–0.88)
234 obs / 297.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.44–1.07)
0≤0.351.4
Missense OE?0.79 (0.71–0.88)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 13 / 19.3Missense obs/exp: 234 / 297.5Syn Z: 0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPRED2 · 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