HEATR3

Chr 16q12.1

HEAT repeat containing 3

Aliases:: FLJ20718
MANE:: ENST00000299192.8

OMIM: 614951 ↗NCBI: 55027 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

HEATR3 · Q7Z4Q2

v62025-08-01

Predicted Aligned Error matrix for HEATR3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.1/ 100

Confident

680 residues

Confidence breakdown

Very high(≥ 90)66%
Confident(70–90)16%
Low(50–70)3%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Abnormality of the skeletal system
0.61
Blackfan-Diamond anemia
0.59
Diamond-Blackfan anemia 21
0.50
Intellectual disability
0.49
Thrombocytopenia
0.49
Obesity
0.49
Short stature
0.49
anemia
0.49
obesity due to melanocortin 4 receptor deficiency
0.49
Abnormal thumb morphology
0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

HEAT repeat-containing protein 3

Plays a role in ribosome biogenesis and in nuclear import of the 60S ribosomal protein L5/large ribosomal subunit protein uL18 (RPL5) (PubMed:35213692). Required for proper erythrocyte maturation (PubMed:35213692)

Curated MONDO disease pages that list HEATR3 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with HEATR3