HDGFL2
Hepatoma Derived Growth Factor Like 2
Gene Information Card
| Symbol | HDGFL2 |
|---|---|
| Full Name | Hepatoma Derived Growth Factor Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 84717 ncbi.nlm.nih.gov/gene/84717 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q7Z4V5 |
| OMIM ID | 617964 |
| HGNC ID | 24965 |
| Aliases | HDGF-2, HDGF2, HRP-3, HMG1L2 |
Description
HDGFL2 (Hepatoma Derived Growth Factor Like 2) is a protein-coding gene located on chromosome 19p13.3. It encodes a member of the hepatoma-derived growth factor (HDGF) family, characterized by a conserved N-terminal PWWP domain. The protein is involved in cell growth, differentiation, and transcriptional regulation. HDGFL2 is widely expressed in various tissues and has been implicated in cancer progression and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression and altered localization may promote cell proliferation and invasion | COSMIC, literature |
| Hepatocellular carcinoma | Upregulation associated with tumor growth and poor prognosis | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.4 | Medium |
| Bone marrow | 12.1 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical cancer cells |
| K562 | 11.2 | Leukemia cells |
| A549 | 9.5 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | Rare | Unknown functional effect |
| c.523G>A (p.Val175Ile) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in major databases.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in major databases.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • protein binding |
| • nucleus | • cytoplasm |
| • cell proliferation | • transcription regulation |
Pathways
• No specific pathway annotations in major databases.
Protein Summary
The HDGFL2 protein (UniProt Q7Z4V5) is a 669-amino acid protein containing a PWWP domain at the N-terminus, which mediates chromatin binding. It localizes to the nucleus and cytoplasm and is involved in cell growth and transcriptional regulation. The protein is expressed in multiple tissues and is upregulated in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDGFL2 Knockout HEK293 Cell Line | EDJ-KQ10178 | Human | 84717 | Details Get a Quote |
| HDGFL2 Knockout A-549 Cell Line | EDJ-KQ37296 | Human | 84717 | Details Get a Quote |
| HDGFL2 Knockout HCT 116 Cell Line | EDJ-KQ37297 | Human | 84717 | Details Get a Quote |
| HDGFL2 Knockout HeLa Cell Line | EDJ-KQ37298 | Human | 84717 | Details Get a Quote |
