HDGFL3
Hepatoma Derived Growth Factor Like 3
Gene Information Card
| Symbol | HDGFL3 |
|---|---|
| Full Name | Hepatoma Derived Growth Factor Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.2 |
| NCBI Gene ID | 50810 ncbi.nlm.nih.gov/gene/50810 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y3E1 |
| OMIM ID | 617203 |
| HGNC ID | 14568 |
| Aliases | HDGF-3, HRP-3, HDGF3 |
Description
HDGFL3 (Hepatoma Derived Growth Factor Like 3) is a protein-coding gene belonging to the hepatoma-derived growth factor (HDGF) family. The encoded protein contains a PWWP domain and is involved in transcriptional regulation, cell growth, and differentiation. It is widely expressed in various tissues and has been implicated in cancer progression and neurodevelopment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression promotes cell proliferation and invasion | COSMIC, literature |
| Neurodevelopmental disorders | Potential role in neuronal differentiation | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney |
| HeLa | 7.4 | Cervical carcinoma |
| A549 | 6.8 | Lung carcinoma |
| K562 | 5.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown significance |
| c.562G>A (p.Gly188Arg) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • transcription regulator activity |
| • nucleus | • cytoplasm |
| • cell differentiation | • cell proliferation |
Pathways
• HDGF signaling
• Transcriptional regulation by PWWP domain proteins
Protein Summary
The HDGFL3 protein is a 240-amino acid nuclear and cytoplasmic factor containing a PWWP domain that mediates DNA binding and protein-protein interactions. It is thought to regulate gene expression involved in cell growth and differentiation, with highest expression in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDGFL3 Knockout HEK293 Cell Line | EDJ-KQ10814 | Human | 50810 | Details Get a Quote |
| HDGFL3 Knockout A-549 Cell Line | EDJ-KQ37173 | Human | 50810 | Details Get a Quote |
| HDGFL3 Knockout HeLa Cell Line | EDJ-KQ38466 | Human | 50810 | Details Get a Quote |
| HDGFL3 Knockout HCT 116 Cell Line | EDJ-KQ73125 | Human | 50810 | Details Get a Quote |
