Home > Gene Browser > HSPA9

HSPA9

Synonyms
CRP40, CSA, EVPLS, GRP-75, GRP75, HEL-S-124m, HSPA9B, MOT, MOT2, MTHSP75, PBP74, SAAN, SIDBA4
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
23
Likely pathogenic
11
VUS
2,789
Likely benign
1,420
Benign
62

Patient Phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on HSPA9 gene are displayed below. The following symptoms were found in patients with a variant in HSPA9. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
55.9%
Constitutional symptom
32.4%
Abnormality of the nervous system
14.7%
Abnormality of head or neck
11.8%
Growth abnormality
11.8%
Abnormality of blood and blood forming tissues
8.8%
Abnormality of the eye
8.8%
Abnormality of the musculoskeletal system
8.8%
Abnormality of the ear
5.9%
Abnormality of limbs
2.9%
Abnormality of the digestive system
2.9%
Abnormality of the endocrine system
2.9%
Abnormality of the integument
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of the voice
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.