HSPA12B
Heat Shock Protein Family A (Hsp70) Member 12B
Gene Information Card
| Symbol | HSPA12B |
|---|---|
| Full Name | Heat Shock Protein Family A (Hsp70) Member 12B |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 116835 ncbi.nlm.nih.gov/gene/116835 |
| Ensembl ID | ENSG00000132622 |
| UniProt ID | Q96MM6 |
| OMIM ID | 610701 |
| HGNC ID | 24926 |
| Aliases | HSPA12B, FLJ25204 |
Description
HSPA12B is a member of the Hsp70 family of heat shock proteins, which are molecular chaperones involved in protein folding, stress response, and cellular protection. Unlike classical Hsp70s, HSPA12B is predominantly expressed in the heart and brain and has been implicated in cardiovascular development and function. It may play a role in protecting cells from ischemic injury and in maintaining cardiac contractility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | HSPA12B is involved in cardiac development and stress response; altered expression may contribute to heart failure and ischemic injury. | NCBI Gene, UniProt |
| Ischemic stroke | HSPA12B expression is upregulated in response to cerebral ischemia and may have a neuroprotective role. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Skeletal muscle | 6.1 | Low |
| Liver | 2.4 | Not detected |
| Kidney | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.2 | High expression |
| Neurons | 9.8 | Moderate expression |
| HEK293 | 4.5 | Low expression |
| HeLa | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect; rare variant |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown functional effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein folding |
| • chaperone activity | • response to stress |
| • heat shock protein binding |
Pathways
• Protein processing in endoplasmic reticulum
• Cellular response to heat stress
Protein Summary
HSPA12B encodes a 686-amino acid protein with a conserved Hsp70 ATPase domain. It functions as a molecular chaperone, assisting in protein folding and protecting cells from stress-induced damage. The protein is localized to the cytoplasm and nucleus, and its expression is enriched in cardiac and neural tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSPA12B Knockout HEK293 Cell Line | EDJ-KQ7582 | Human | 116835 | Details Get a Quote |
| HSPA12B Knockout A-549 Cell Line | EDJ-KQ32899 | Human | 116835 | Details Get a Quote |
| HSPA12B Knockout HCT 116 Cell Line | EDJ-KQ32900 | Human | 116835 | Details Get a Quote |
| HSPA12B Knockout HeLa Cell Line | EDJ-KQ57997 | Human | 116835 | Details Get a Quote |
