HNRNPA3

Chr 2

heterogeneous nuclear ribonucleoprotein A3

Also known as: 2610510D13Rik, D10S102, FBRNP, HNRPA3

NCBI Gene: 220988ENSG00000170144UniProt: P51991

Enables RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Located in nucleus. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
10
Pubs (1 yr)
3.6
Missense Z· constrained
0.23
LOEUF· LoF intolerant
Clinical Summary— HNRNPA3
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.23LOEUF
pLI 0.995
Z-score 3.98
OE 0.05 (0.02–0.23)
Highly constrained

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

Missense Constraint
3.64Z-score
OE missense 0.30 (0.24–0.37)
63 obs / 212.0 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.05 (0.02–0.23)
0≤0.351.4
Missense OE0.30 (0.24–0.37)
0≤0.61.4
Synonymous OE1.21
0≤1.21.6
LoF obs/exp: 1 / 20.4Missense obs/exp: 63 / 212.0Syn Z: -1.37
LOF
DN
0.4389th %ile
GOF
0.3689th %ile
LOF
0.79top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.23

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

HNRNPA3 · 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 5 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