DAAM2

Chr 6

dishevelled associated activator of morphogenesis 2

Also known as: NPHS24, dJ90A20A.1

NCBI Gene: 23500ENSG00000146122UniProt: Q86T65

Predicted to enable actin binding activity and small GTPase binding activity. Involved in several processes, including podocyte cell migration; regulation of actin filament polymerization; and regulation of filopodium assembly. Located in nucleoplasm. Implicated in nephrotic syndrome type 24. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNephrotic syndrome 24

Clinical highlights

Gene-disease validity (ClinGen)
idiopathic multidrug-resistant nephrotic syndrome · ARLimitednot for standalone diagnostic reporting
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.09
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.09LOEUF
pLI 1.000
Z-score 6.45
OE 0.02 (0.01–0.09)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
1.27Z-score
OE missense 0.86 (0.80–0.92)
535 obs / 624.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.02 (0.01–0.09)
0≤0.351.4
Missense OE?0.86 (0.80–0.92)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 1 / 50.4Missense obs/exp: 535 / 624.5Syn Z: 0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DAAM2 · 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