HSDL2: Hydroxysteroid Dehydrogenase Like 2
A comprehensive biomedical overview of the HSDL2 gene, including its genomic context, expression patterns, and associated diseases.
Gene Information Card
| Symbol | HSDL2 |
|---|---|
| Full Name | Hydroxysteroid Dehydrogenase Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 84263 ncbi.nlm.nih.gov/gene/84263 |
| Ensembl ID | ENSG00000107130 |
| UniProt ID | Q6YN16 |
| OMIM ID | 617119 |
| HGNC ID | 25371 |
| Aliases | SDR15C1, FLJ11273, HSD15C1 |
Description
HSDL2 (Hydroxysteroid Dehydrogenase Like 2) is a protein-coding gene located on chromosome 9q32. It encodes a member of the short-chain dehydrogenase/reductase (SDR) family, which is involved in the metabolism of steroids, retinoids, and other lipids. The enzyme functions as a hydroxysteroid dehydrogenase, catalyzing the oxidation/reduction of hydroxyl groups on steroid substrates. HSDL2 is widely expressed in various tissues and has been implicated in cellular processes such as lipid metabolism and redox regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression of HSDL2 may influence steroid hormone metabolism, potentially affecting estrogen-dependent signaling pathways. | NCBI Gene, COSMIC |
| Prostate cancer | Dysregulation of hydroxysteroid dehydrogenase activity can impact androgen metabolism, contributing to tumor progression. | COSMIC, ClinVar |
| Colorectal cancer | HSDL2 expression changes have been observed in colorectal tumors, possibly linked to lipid metabolic reprogramming. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 7.5 | Lung carcinoma cell line |
| HEK293 | 6.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Potential loss of enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
p.Gly163Arg may reduce catalytic efficiency based on structural homology.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854) | • oxidoreductase activity (GO:0016491) |
| • steroid biosynthetic process (GO:0006694) | • oxidation-reduction process (GO:0055114) |
| • cytoplasm (GO:0005737) |
Pathways
• Steroid hormone biosynthesis (KEGG:00140)
• Metabolic pathways (KEGG:01100)
Protein Summary
HSDL2 encodes a 342-amino acid protein belonging to the short-chain dehydrogenase/reductase (SDR) family. The protein contains a conserved NAD(P)-binding Rossmann fold and a catalytic triad typical of SDR enzymes. It localizes to the cytoplasm and is involved in the metabolism of steroid hormones, including the conversion of androstenedione to testosterone and the reduction of 17-ketosteroids. Structural studies suggest a homodimeric arrangement. The enzyme's activity is dependent on NADPH as a cofactor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSDL2 Knockout HEK293 Cell Line | EDJ-KQ10038 | Human | 84263 | Details Get a Quote |
| HSDL2 Knockout A-549 Cell Line | EDJ-KQ37044 | Human | 84263 | Details Get a Quote |
| HSDL2 Knockout HCT 116 Cell Line | EDJ-KQ37045 | Human | 84263 | Details Get a Quote |
| HSDL2 Knockout HeLa Cell Line | EDJ-KQ37046 | Human | 84263 | Details Get a Quote |
