HPCAL4: Hippocalcin Like 4
A calcium-binding protein involved in neuronal signaling and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | HPCAL4 |
|---|---|
| Full Name | Hippocalcin Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 51440 ncbi.nlm.nih.gov/gene/51440 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q9UM19 |
| OMIM ID | 607722 |
| HGNC ID | 17844 |
| Aliases | Hippocalcin-like protein 4, VILIP-3, VILIP3 |
Description
HPCAL4 (Hippocalcin Like 4) is a protein-coding gene that belongs to the neuronal calcium sensor (NCS) family. It encodes a calcium-binding protein that modulates intracellular calcium signaling and is primarily expressed in the brain. HPCAL4 is involved in neuronal development, synaptic plasticity, and may play roles in cancer progression and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect calcium signaling and cell proliferation; potential oncogenic role. | Limited evidence from expression studies (COSMIC, PubMed). |
| Breast cancer | Dysregulation of HPCAL4 may influence tumor growth and metastasis via calcium-dependent pathways. | Expression data from COSMIC and TCGA. |
| Alzheimer's disease | Calcium dysregulation linked to neurodegeneration; HPCAL4 may modulate amyloid-beta toxicity. | Association studies (PubMed). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Heart | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.3 | Neuronal cell line; high expression |
| HEK293 | 0.9 | Low expression |
| MCF7 | 2.1 | Breast cancer cell line; moderate expression |
| HCT116 | 3.5 | Colorectal cancer cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200A>G (p.Asn67Ser) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.415C>T (p.Arg139Trp) | Missense | <0.01% | Potential loss of calcium binding |
| c.532G>A (p.Glu178Lys) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in calcium-binding domains may impair calcium sensing and signaling.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • calcium-dependent phospholipid binding |
| • neuropeptide signaling pathway | • visual perception |
| • synaptic transmission | • glutamatergic |
Pathways
• Calcium signaling pathway
• Neuronal system
• Alzheimer disease
Protein Summary
HPCAL4 encodes a 22 kDa calcium-binding protein (hippocalcin-like protein 4) with four EF-hand domains. It belongs to the visinin-like protein (VILIP) subfamily and is predominantly expressed in the brain. The protein binds calcium ions and modulates downstream signaling, including MAPK and cAMP pathways. It is implicated in neuronal differentiation, synaptic plasticity, and potentially in tumorigenesis through calcium-dependent mechanisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| HPCAL4 Knockout HeLa Cell Line | EDJ-KQ56311 | Human | 51440 | Details Get a Quote |
| HPCAL4 Knockout A-549 Cell Line | EDJ-KQ64800 | Human | 51440 | Details Get a Quote |
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