HEATR3

Chr 16

HEAT repeat containing 3

Also known as: DBA21, SYO1, hsSyo1

NCBI Gene: 55027ENSG00000155393UniProt: Q7Z4Q2

The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDiamond-Blackfan anemia 21
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
—
Mechanism
📖
GeneReview available — HEATR3
Authoritative clinical overview · Recommended first read
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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?
0.82LOEUF
pLI 0.000
Z-score 2.28
OE 0.54 (0.36–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.14Z-score
OE missense 0.82 (0.75–0.91)
275 obs / 333.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.36–0.82)
0≤0.351.4
Missense OE?0.82 (0.75–0.91)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 15 / 28.0Missense obs/exp: 275 / 333.4Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HEATR3 · 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