HSPA7
pseudoheat shock protein family A (Hsp70) member 7 (pseudogene), the group of Heat shock 70kDa proteins
Gene summary
Predicted to enable ATP hydrolysis activity; heat shock protein binding activity; and protein folding chaperone. Predicted to be involved in protein refolding. Located in COP9 signalosome. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to HSPA7 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Parkin-Ubiquitin Proteasomal System pathway
- Regulation of HSF1-mediated heat shock response
- Cellular responses to stress
- Cellular responses to external stimuli
- Cellular response to heat stress
Biological Process
- response to unfolded protein
- biological_process
- cellular response to heat
- cellular response to unfolded protein
- protein refolding
Molecular Function
- molecular_function
- ATP binding
- ATPase activity
- heat shock protein binding
- ATPase activity, coupled
Cellular Component
- nucleus
- cytoplasm
- cytosol
- COP9 signalosome
- protein-containing complex
dbNSFP Gene Annotations
Source:
Essentials
- Indispensability pred.
- N
- Indispensability score
- 0.231