HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HSDL2
hydroxysteroid dehydrogenase like 2
Chromosome 9 · 9q32
NCBI Gene: 84263Ensembl: ENSG00000119471.16HGNC: HGNC:18572UniProt: Q6YN16
94PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
steroid dehydrogenase activitycholesterol homeostasismitochondrionperoxisomepreeclampsiaplacental retentionsquamous cell carcinomasmoking initiation
✦AI Summary

HSDL2 is a mitochondrial protein that functions as a metabolic regulator despite lacking steroid dehydrogenase enzymatic activity 1. Its primary role involves controlling bile acid and lipid metabolism in response to nutritional signals 2. During fasting, HSDL2 expression is induced through PGC1α-PPARα activation and mTORC1 inhibition, promoting cholesterol conversion to bile acids and supporting mitochondrial respiration and fatty acid oxidation 2. HSDL2 depletion impairs FXR activity and reduces TCA cycle function, linking nutritional cues to hepatic homeostasis 2. Beyond metabolic regulation, HSDL2 exhibits oncogenic properties across multiple cancer types. In lung adenocarcinoma and cervical cancer, HSDL2 overexpression promotes proliferation, invasion, and migration through AKT2 signaling and epithelial-mesenchymal transition 34. Conversely, in cholangiocarcinoma, HSDL2 functions as a tumor suppressor; its knockdown promotes progression by inhibiting ferroptosis via the p53/SLC7A11 axis 5. HSDL2 emerges as a potential biomarker in temporal lobe epilepsy, where elevated expression in astrocytes associates with excessive lipid accumulation and seizure-related pathology 6. These diverse roles reflect HSDL2's central involvement in lipid and energy metabolism across physiological and pathological contexts.

Sources cited
1
HSDL2 is a fasting-induced mitochondrial protein that links nutritional signals to bile acid and cholesterol homeostasis through promotion of cholesterol-to-bile acid conversion and mitochondrial respiration
PMID: 38820148
2
HSDL2 has apparently no steroid dehydrogenase activity
PMID: 19703561
3
HSDL2 functions as an oncogene in lung adenocarcinoma promoting growth and metastasis via AKT2 signaling
PMID: 32211805
4
HSDL2 overexpression in cervical cancer promotes proliferation, invasion, migration through epithelial-mesenchymal transition and lipid metabolism regulation
PMID: 33738911
5
HSDL2 acts as a tumor suppressor in cholangiocarcinoma; its knockdown promotes progression by inhibiting ferroptosis through the p53/SLC7A11 axis
PMID: 37718459
6
HSDL2 is identified as a hub gene and potential biomarker in temporal lobe epilepsy, enriched in astrocytes with excessive lipid accumulation
PMID: 39245623
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.32Weak
placental retentionOpen Targets
0.30Weak
squamous cell carcinomaOpen Targets
0.28Weak
smoking initiationOpen Targets
0.21Weak
cholangiocarcinomaOpen Targets
0.10Weak
azoospermiaOpen Targets
0.09Suggestive
male infertilityOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
temporal lobe epilepsyOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.08Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
pachyonychia congenitaOpen Targets
0.07Suggestive
Female infertility due to fertilization defectOpen Targets
0.07Suggestive
Rare genetic female infertilityOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 3Open Targets
0.06Suggestive
spermatogenic failure 55Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HIBCHProtein interaction96%AUHProtein interaction91%CRYL1Protein interaction91%CDY1BProtein interaction91%ECHDC2Protein interaction90%CARTPTProtein interaction89%
Tissue Expression6 tissues
Heart
100%
Liver
80%
Brain
50%
Ovary
29%
Lung
21%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
HSDL2HIBCHAUHCRYL1CDY1BECHDC2CARTPT
PROTEIN STRUCTURE
Preparing viewer…
PDB3KVO · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.46–1.17]
RankingsWhere HSDL2 stands among ~20K protein-coding genes
  • #5,089of 20,598
    Most Researched94 · top quartile
  • #12,287of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedHSDL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HSDL2 links nutritional cues to bile acid and cholesterol homeostasis.
PMID: 38820148
Sci Adv · 2024
1.00
2
Mitochondria-related HSDL2 is a potential biomarker in temporal lobe epilepsy by modulating astrocytic lipid metabolism.
PMID: 39245623
Neurotherapeutics · 2024
0.90
3
Lipid metabolism regulator human hydroxysteroid dehydrogenase-like 2 (HSDL2) modulates cervical cancer cell proliferation and metastasis.
PMID: 33738911
J Cell Mol Med · 2021
0.80
4
Molecular cloning and characterization of a novel human hydroxysteroid dehydrogenase-like 2 (HSDL2) cDNA from fetal brain.
PMID: 12834046
Biochem Genet · 2003
0.70
5
Knockdown of HSDL2 inhibits lung adenocarcinoma progression via down-regulating AKT2 expression.
PMID: 32211805
Biosci Rep · 2020
0.60