HSPA9 Chromosome 5
Heat shock protein family A (Hsp70) member 9
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What This Gene Does
This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
Gene Info
Gene Group
"Heat shock 70kDa proteins|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000113013
Associated Conditions (3)
Even-plus syndrome
HSPA9-related disorder
Autosomal dominant sideroblastic anemia
Key Variants
RS10117
Conflicting classifications of pathogenicity
Even-plus syndrome, Even-plus syndrome
Health Risk
RS772570880
Conflicting classifications of pathogenicity
Even-plus syndrome, HSPA9-related disorder, Autosomal dominant sideroblastic anemia
Health Risk
RS1006015882
Likely pathogenic
Health Risk
RS2127152868
Likely pathogenic
Health Risk
RS1750784096
Pathogenic
Health Risk
RS751478142
Pathogenic
Even-plus syndrome, Even-plus syndrome
Health Risk
RS763817505
Pathogenic
Autosomal dominant sideroblastic anemia, Autosomal dominant sideroblastic anemia
Health Risk
RS765368797
Pathogenic
Even-plus syndrome, Even-plus syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10117 | Health Risk | Conflicting classifications of pathogenicity | Even-plus syndrome, Even-plus syndrome |
| RS772570880 | Health Risk | Conflicting classifications of pathogenicity | Even-plus syndrome, HSPA9-related disorder, Autosomal dominant sideroblastic anemia |
| RS1006015882 | Health Risk | Likely pathogenic | — |
| RS2127152868 | Health Risk | Likely pathogenic | — |
| RS1750784096 | Health Risk | Pathogenic | — |
| RS751478142 | Health Risk | Pathogenic | Even-plus syndrome, Even-plus syndrome |
| RS763817505 | Health Risk | Pathogenic | Autosomal dominant sideroblastic anemia, Autosomal dominant sideroblastic anemia |
| RS765368797 | Health Risk | Pathogenic | Even-plus syndrome, Even-plus syndrome |