AHCYL2

Chr 7

adenosylhomocysteinase like 2

Also known as: ADOHCYASE3, IRBIT2

NCBI Gene: 23382ENSG00000158467UniProt: Q96HN2

The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

0
Active trials
25
Pathogenic / LP
96
ClinVar variants
2
Pubs (1 yr)
2.7
Missense Z
0.29
LOEUF· LoF intolerant
Clinical Summary— AHCYL2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic· 70 VUS of 96 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.29LOEUF
pLI 0.991
Z-score 4.81
OE 0.14 (0.07–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.74Z-score
OE missense 0.57 (0.50–0.64)
183 obs / 321.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.14 (0.07–0.29)
0≤0.351.4
Missense OE0.57 (0.50–0.64)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 5 / 36.2Missense obs/exp: 183 / 321.1Syn Z: 0.50

ClinVar Variant Classifications

96 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
VUS70
Likely Benign1
25
Pathogenic
70
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
25
0
25
Likely Pathogenic
0
0
0
0
0
VUS
0
68
2
0
70
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total06828096

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

AHCYL2 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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