HSPA9 heat shock protein family A (Hsp70) member 9

Gene info

Synonyms

GRP75, PBP74, mot-2, mthsp75

Previous symbol

HSPA9B

External ID

HGNC: 5244
Entrez Gene: 3313
Ensembl: ENSG00000113013
UCSC: uc003ldf.4
OMIM: 600548
UniProtKB: P38646

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Patent foramen ovale

Extra Cardiac Phenotype

Prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a knock-out allele exhibit complete embryonic lethality

MGI ID

96245

Variant info

Clinvar

HSPA9

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for HSPA9.

Selected References

  1. Royer-Bertrand, B., Castillo-Taucher, S., Moreno-Salinas, R., Cho, T.-J., Chae, J.-H., Choi, M., Kim, O.-H., Dikoglu, E., Campos-Xavier, B., Girardi, E., Superti-Furga, G., Bonafé, L., Rivolta, C., Unger, S., & Superti-Furga, A. (2015). Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Scientific Reports, 5(1). https://doi.org/10.1038/srep17154 DOI:10.1038/srep17154 PMID:26598328
  2. Younger, G., Vetrini, F., Weaver, D. D., Lynnes, T. C., Treat, K., Pratt, V. M., & Torres‐Martinez, W. (2020). <scp>EVEN‐PLUS</scp> syndrome: A case report with novel variants in <scp>HSPA9</scp> and evidence of <scp>HSPA9</scp> gene dysfunction. American Journal of Medical Genetics Part A, 182(11), 2501–2507. Portico. https://doi.org/10.1002/ajmg.a.61808 DOI:10.1002/ajmg.a.61808 PMID:32869452