HEATR5B Chromosome 2
HEAT repeat containing 5B
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What This Gene Does
Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
2p22.2
Ensembl
ENSG00000008869
Associated Conditions (3)
HEATR5B-associated Pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia
Neurological syndrome with pontocerebellar hypoplasia
Key Variants
RS1667163007
Likely pathogenic
HEATR5B-associated Pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia, HEATR5B-associated Pontocerebellar hypoplasia
Health Risk
RS1667224478
Likely pathogenic
HEATR5B-associated Pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia, HEATR5B-associated Pontocerebellar hypoplasia
Health Risk
RS369632588
Likely pathogenic
Neurological syndrome with pontocerebellar hypoplasia, Neurological syndrome with pontocerebellar hypoplasia
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1667163007 | Health Risk | Likely pathogenic | HEATR5B-associated Pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia, HEATR5B-associated Pontocerebellar hypoplasia |
| RS1667224478 | Health Risk | Likely pathogenic | HEATR5B-associated Pontocerebellar hypoplasia, Congenital pontocerebellar hypoplasia, HEATR5B-associated Pontocerebellar hypoplasia |
| RS369632588 | Health Risk | Likely pathogenic | Neurological syndrome with pontocerebellar hypoplasia, Neurological syndrome with pontocerebellar hypoplasia |