HINT2

Chr 9

histidine triad nucleotide binding protein 2

Also known as: HIT-17

NCBI Gene: 84681ENSG00000137133UniProt: Q9BX68

Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.72
LOEUF
DN
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?
1.72LOEUF
pLI 0.000
Z-score -0.01
OE 1.00 (0.58–1.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.35Z-score
OE missense 1.11 (0.94–1.31)
95 obs / 85.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.00 (0.58–1.72)
0≤0.351.4
Missense OE?1.11 (0.94–1.31)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 8 / 8.0Missense obs/exp: 95 / 85.8Syn Z: 0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HINT2 · 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