AMDHD2

Chr 16

amidohydrolase domain containing 2

Also known as: CGI-14

NCBI Gene: 51005ENSG00000162066UniProt: Q9Y303

Enables N-acetylglucosamine-6-phosphate deacetylase activity. Involved in negative regulation of UDP-N-acetylglucosamine biosynthetic process. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.81
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?
0.81LOEUF
pLI 0.002
Z-score 2.12
OE 0.43 (0.24–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.52Z-score
OE missense 0.92 (0.84–1.01)
341 obs / 369.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.24–0.81)
0≤0.351.4
Missense OE?0.92 (0.84–1.01)
0≤0.61.4
Synonymous OE?1.37
0≤1.21.6
LoF obs/exp: 7 / 16.2Missense obs/exp: 341 / 369.1Syn Z: -3.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AMDHD2 · 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