HPCA (Hippocalcin) Gene
Neuronal Calcium Sensor Protein Gene
Gene Information Card
| Symbol | HPCA |
|---|---|
| Full Name | Hippocalcin |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 3208 ncbi.nlm.nih.gov/gene/3208 |
| Ensembl ID | ENSG00000121905 |
| UniProt ID | P84074 |
| OMIM ID | 142622 |
| HGNC ID | 5141 |
| Aliases | BDR1, DYT2, DYT2A, hippocalcin |
Description
The HPCA gene encodes hippocalcin, a member of the neuronal calcium sensor (NCS) family. Hippocalcin is predominantly expressed in the brain, particularly in the hippocampus and cortex, where it functions as a calcium-dependent modulator of neuronal signaling, synaptic plasticity, and neuronal survival. Mutations in HPCA are associated with autosomal dominant dystonia type 2 (DYT2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dystonia 2 (DYT2) | Missense mutations in HPCA impair calcium binding and disrupt neuronal calcium signaling, leading to abnormal motor control. | OMIM #142622; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (hippocampus) | 15.2 | High |
| Brain (cerebellum) | 8.3 | Medium |
| Testis | 1.2 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.4 | High expression |
| U-87 MG (glioblastoma) | 9.7 | Moderate expression |
| HEK293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Cys) | Missense | Rare | Loss of calcium binding; associated with DYT2 dystonia |
| c.371G>A (p.Arg124His) | Missense | Rare | Impaired calcium-dependent conformational change; pathogenic |
Mutation functional classification
Loss of Function (LOF)
p.Arg76Cys and p.Arg124His reduce calcium binding affinity, impairing hippocalcin's ability to regulate downstream signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
p.Arg76Cys may exert dominant-negative effects by interfering with wild-type hippocalcin function in neurons.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • protein binding (GO:0005515) |
| • axon (GO:0030424) | • neuronal cell body (GO:0043025) |
| • modulation of chemical synaptic transmission (GO:0050804) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Neuronal calcium sensor pathway (Reactome: R-HSA-9006934)
Protein Summary
Hippocalcin is a 23 kDa calcium-binding protein containing three EF-hand motifs. It undergoes a calcium-dependent conformational change that exposes a myristoyl switch, enabling membrane association. Hippocalcin modulates various neuronal processes including synaptic vesicle trafficking, ion channel regulation, and gene expression. Its dysfunction is linked to early-onset dystonia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPCA Knockout HEK293 Cell Line | EDJ-KQ4908 | Human | 3208 | Details Get a Quote |
| HPCAL4 Knockout HEK293 Cell Line | EDJ-KQ11097 | Human | 51440 | Details Get a Quote |
| HPCAL4 Knockout HCT 116 Cell Line | EDJ-KQ39048 | Human | 51440 | Details Get a Quote |
| HPCAL1 Knockout HEK293 Cell Line | EDJ-KQ50363 | Human | 3241 | Details Get a Quote |
| HPCA Knockout HeLa Cell Line | EDJ-KQ53550 | Human | 3208 | Details Get a Quote |
| HPCAL1 Knockout HeLa Cell Line | EDJ-KQ53565 | Human | 3241 | Details Get a Quote |
| HPCAL4 Knockout HeLa Cell Line | EDJ-KQ56311 | Human | 51440 | Details Get a Quote |
| HPCA Knockout A-549 Cell Line | EDJ-KQ62017 | Human | 3208 | Details Get a Quote |
| HPCAL1 Knockout A-549 Cell Line | EDJ-KQ62032 | Human | 3241 | Details Get a Quote |
| HPCAL4 Knockout A-549 Cell Line | EDJ-KQ64800 | Human | 51440 | Details Get a Quote |
| HPCA Knockout HCT 116 Cell Line | EDJ-KQ70495 | Human | 3208 | Details Get a Quote |
| HPCAL1 Knockout HCT 116 Cell Line | EDJ-KQ70512 | Human | 3241 | Details Get a Quote |
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