HSPA12A
Heat Shock Protein Family A (Hsp70) Member 12A
Gene Information Card
| Symbol | HSPA12A |
|---|---|
| Full Name | Heat Shock Protein Family A (Hsp70) Member 12A |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 259217 ncbi.nlm.nih.gov/gene/259217 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | O43301 |
| OMIM ID | 610701 |
| HGNC ID | 24928 |
| Aliases | HSPA12, FLJ32065, MGC131895 |
Description
HSPA12A encodes a member of the Hsp70 family of heat shock proteins. This protein is involved in cellular stress response, protein folding, and protection against apoptosis. It is expressed in various tissues and has been implicated in cardiovascular and neurological diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | HSPA12A may modulate endothelial cell function and inflammatory response in vascular walls. | PMID: 25687212 |
| Ischemic stroke | Upregulation of HSPA12A in brain tissue suggests a neuroprotective role during ischemia. | PMID: 23376782 |
| Alzheimer's disease | Altered expression in hippocampal neurons may contribute to protein aggregation stress. | PMID: 24878568 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.5 | Moderate expression |
| HeLa | 7.8 | Low expression |
| SH-SY5Y | 11.2 | Medium expression |
| HUVEC | 14.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Val163Ile) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • protein folding (GO:0006457) |
| • response to heat (GO:0009408) | • cellular response to heat (GO:0034605) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• MAPK signaling pathway (KEGG: hsa04010)
• Estrogen signaling pathway (KEGG: hsa04915)
Protein Summary
HSPA12A is a 675-amino acid protein belonging to the Hsp70 family. It contains an N-terminal ATPase domain and a C-terminal substrate-binding domain. The protein is localized in the cytoplasm and nucleus, and its expression is induced by heat shock and other stressors. It functions as a molecular chaperone, assisting in protein folding, preventing aggregation, and promoting cell survival under stress conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPA12A Knockout HEK293 Cell Line | EDJ-KQ13785 | Human | 259217 | Details Get a Quote |
| HSPA12A Knockout A-549 Cell Line | EDJ-KQ43575 | Human | 259217 | Details Get a Quote |
| HSPA12A Knockout HCT 116 Cell Line | EDJ-KQ43576 | Human | 259217 | Details Get a Quote |
| HSPA12A Knockout HeLa Cell Line | EDJ-KQ43577 | Human | 259217 | Details Get a Quote |
