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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAXDC2
fatty acid hydroxylase domain containing 2
Chromosome 5 · 5q33.2
NCBI Gene: 10826Ensembl: ENSG00000170271.12HGNC: HGNC:1334UniProt: Q96IV6
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of megakaryocyte differentiationcytoplasmprotein bindingpositive regulation of protein phosphorylationalcohol drinkingendocrine system diseaseautismadolescent idiopathic scoliosis
✦AI Summary

FAXDC2 is a cholesterol biosynthesis enzyme that functions as a C4 methyl sterol oxidase in the Kandutsch-Russell pathway 1. Beyond its enzymatic role, FAXDC2 promotes megakaryocyte differentiation through ERK phosphorylation and RUNX1 upregulation. In cancer biology, FAXDC2 exhibits tumor-suppressive functions. It inhibits hepatocellular carcinoma proliferation and invasion by suppressing ERK phosphorylation and upregulating E-cadherin, with decreased FAXDC2 expression correlating to poor prognosis 2. FAXDC2 links Wnt/β-catenin signaling to RTK/MAPK pathways; Wnt inhibition increases RTK recycling and MAPK activation through FAXDC2-dependent mechanisms 1. FAXDC2 is repressed in Wnt-high cancers and colorectal malignancies, where accumulation of its substrate lophenol marks cancerous tissue 1. Clinically, FAXDC2 is incorporated into cholesterol-related prognostic signatures for head and neck squamous cell carcinoma 3, and appears as a component of Sorafenib-response regulatory networks in hepatocellular carcinoma 4. The gene also associates with ferroptosis-related iron metabolism alterations in UVB-induced melanocyte damage 5. These findings position FAXDC2 as a critical integrator of lipid metabolism, developmental signaling, and cancer suppression.

Sources cited
1
FAXDC2 functions as a methyl sterol oxidase catalyzing C4 demethylation in cholesterol biosynthesis and couples Wnt/β-catenin to RTK/MAPK signaling
PMID: 38488003
2
FAXDC2 inhibits hepatocellular carcinoma proliferation and invasion by suppressing ERK phosphorylation and upregulating E-cadherin
PMID: 38125362
3
FAXDC2 is a component of cholesterol-related gene signatures for prognostic assessment in head and neck squamous cell carcinoma
PMID: 39411955
4
FAXDC2 is upregulated in Sorafenib-treated HepG2 cells as part of lncRNA-miRNA-mRNA regulatory axes
PMID: 39839902
5
FAXDC2 is altered in iron metabolism during UVB-induced ferroptosis in melanocytes
PMID: 40216658
6
FAXDC2 is identified as a hub gene associated with adult degenerative scoliosis through bioinformatics analysis
PMID: 38103507
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.32Weak
endocrine system diseaseOpen Targets
0.32Weak
autismOpen Targets
0.11Weak
adolescent idiopathic scoliosisOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.04Suggestive
cholelithiasisOpen Targets
0.04Suggestive
brain cancerOpen Targets
0.02Suggestive
central nervous system cancerOpen Targets
0.02Suggestive
nervous system cancerOpen Targets
0.02Suggestive
Hodgkins lymphomaOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
benign prostatic hyperplasiaOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
LeishmaniasisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSD17B7Protein interaction100%ERG28Protein interaction100%NSDHLProtein interaction99%CYP51A1Protein interaction97%FDFT1Protein interaction97%LSSProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
81%
Heart
63%
Ovary
62%
Brain
60%
Lung
46%
Gene Interaction Network
Click a node to explore
FAXDC2HSD17B7ERG28NSDHLCYP51A1FDFT1LSS
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96IV6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.04 [0.80–1.37]
RankingsWhere FAXDC2 stands among ~20K protein-coding genes
  • #16,446of 20,598
    Most Researched12
  • #14,297of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedFAXDC2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
FAXDC2 inhibits the proliferation and invasion of human liver cancer HepG2 cells.
PMID: 38125362
Exp Ther Med · 2024
1.00
2
The cholesterol biosynthesis enzyme FAXDC2 couples Wnt/β-catenin to RTK/MAPK signaling.
PMID: 38488003
J Clin Invest · 2024
0.83
3
PMID: 39839902
World J Gastroenterol · 2025
0.67
4
UVB irradiation induces melanocyte damage through ferroptosis: mechanisms and implications.
PMID: 40216658
Photochem Photobiol Sci · 2025
0.50
5
Development and Validation of a Cholesterol-related Gene Signature for Prognostic Assessment in Head and Neck Squamous Cell Carcinoma.
PMID: 39411955
Curr Med Chem · 2025
0.33