HEATR5B

Chr 2p22.2

HEAT repeat containing 5B

Aliases:: KIAA1414, DKFZp686P15184, p200, p200a
MANE:: ENST00000233099.6

OMIM: 619627 ↗NCBI: 54497 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HEATR5B · Q9P2D3

v62025-08-01

Predicted Aligned Error matrix for HEATR5B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.2/ 100

Confident

2,071 residues

Confidence breakdown

Very high(≥ 90)34%
Confident(70–90)51%
Low(50–70)7%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pontocerebellar hypoplasia
0.58
Seizure
0.49
Intellectual disability
0.49
neurodegenerative disease
0.48
Non-syndromic pontocerebellar hypoplasia
0.32
hypertensive disorder
0.26
atrial fibrillation
0.22
atrial flutter
0.21
type 2 diabetes mellitus
0.19
cardiovascular disorder
0.12

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

Protein function (UniProt)

HEAT repeat-containing protein 5B

Component of clathrin-coated vesicles (PubMed:15758025). Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025)