HEPN1
Hepatocellular Carcinoma, Down-Regulated 1
Gene Information Card
| Symbol | HEPN1 |
|---|---|
| Full Name | Hepatocellular Carcinoma, Down-Regulated 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 64116 ncbi.nlm.nih.gov/gene/64116 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9Y5V3 |
| OMIM ID | 610363 |
| HGNC ID | 26382 |
| Aliases | HEPN, HEPN1, MGC12966 |
Description
HEPN1 (Hepatocellular Carcinoma, Down-Regulated 1) is a protein-coding gene located on chromosome 11q13.3. It is frequently down-regulated in hepatocellular carcinoma and is considered a potential tumor suppressor. The gene encodes a small protein of unknown function, but its reduced expression in liver cancer suggests a role in hepatocyte growth regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Down-regulation of HEPN1 expression is associated with tumor progression; may act as a tumor suppressor | NCBI Gene, OMIM |
| Liver neoplasms | Reduced expression observed in malignant liver tissues | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 5.2 | Low |
| Testis | 3.1 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.4 | Hepatocellular carcinoma cell line |
| HEK 293 | 2.1 | Embryonic kidney cells |
| HeLa | 1.5 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown significance |
| c.55C>T | missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Not established; down-regulation in tumors suggests possible loss of function
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • biological_process: negative regulation of cell proliferation (GO:0008285) | • cellular_component: cytoplasm (GO:0005737) |
Protein Summary
The HEPN1 protein is a small, 82-amino-acid polypeptide with no known enzymatic domains. It is localized to the cytoplasm and may play a role in suppressing cell proliferation. Its down-regulation in hepatocellular carcinoma suggests a tumor-suppressive function, but the precise molecular mechanism remains unknown.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEPN1 Knockout HEK293 Cell Line | EDJ-KQ13739 | Human | 641654 | Details Get a Quote |
| HEPN1 Knockout HeLa Cell Line | EDJ-KQ60523 | Human | 641654 | Details Get a Quote |
| HEPN1 Knockout A-549 Cell Line | EDJ-KQ68992 | Human | 641654 | Details Get a Quote |
| HEPN1 Knockout HCT 116 Cell Line | EDJ-KQ77351 | Human | 641654 | Details Get a Quote |
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