ASAH2B

Chr 10

N-acylsphingosine amidohydrolase 2B

Also known as: ASAH2C, ASAH2L, bA449O16.3, bA98I6.3

NCBI Gene: 653308ENSG00000204147UniProt: P0C7U1OMIM: 610987

Predicted to enable N-acylsphingosine amidohydrolase activity. Predicted to be involved in ceramide biosynthetic process; ceramide catabolic process; and sphingosine biosynthetic process. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.70
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.70LOEUF
pLI 0.160
Z-score 0.75
OE 0.45 (0.15–1.70)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.76Z-score
OE missense 0.56 (0.36–0.89)
13 obs / 23.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.15–1.70)
0≤0.351.4
Missense OE?0.56 (0.36–0.89)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 1 / 2.2Missense obs/exp: 13 / 23.4Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ASAH2B · 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