HEATR3 Chromosome 16
HEAT repeat containing 3
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What This Gene Does
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]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000155393
Associated Conditions (3)
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 21
Diamond-Blackfan anemia
Key Variants
RS1184398890
Pathogenic
Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia 1
Health Risk
RS2150594383
Pathogenic
Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia 1
Health Risk
RS2150600578
Pathogenic
Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia 1
Health Risk
RS2150610519
Pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia
Health Risk
RS917466219
Pathogenic/Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1184398890 | Health Risk | Pathogenic | Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia 1 |
| RS2150594383 | Health Risk | Pathogenic | Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia 1 |
| RS2150600578 | Health Risk | Pathogenic | Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia 1 |
| RS2150610519 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia |
| RS917466219 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia 21, Diamond-Blackfan anemia |