DDAH2

Chr 6

DDAH family member 2, ADMA-independent

Also known as: DDAH, DDAHII, G6a, HEL-S-277, NG30

NCBI Gene: 23564ENSG00000213722UniProt: O95865

This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]

ResearchGenerating clinical summary…
1
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
—
Mechanism
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?
0.86LOEUF
pLI 0.014
Z-score 1.92
OE 0.41 (0.21–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.31Z-score
OE missense 0.53 (0.45–0.63)
102 obs / 192.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.41 (0.21–0.86)
0≤0.351.4
Missense OE?0.53 (0.45–0.63)
0≤0.61.4
Synonymous OE?0.69
0≤1.21.6
LoF obs/exp: 5 / 12.3Missense obs/exp: 102 / 192.3Syn Z: 2.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DDAH2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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