FAXDC2 (Fatty Acid Hydroxylase Domain Containing 2)
A gene encoding a putative fatty acid hydroxylase involved in lipid metabolism and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | FAXDC2 |
|---|---|
| Full Name | Fatty Acid Hydroxylase Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.1 |
| NCBI Gene ID | 10826 ncbi.nlm.nih.gov/gene/10826 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q96IV6 |
| OMIM ID | 617849 |
| HGNC ID | 28978 |
| Aliases | FAXDC2, FLJ20035, MGC138290 |
Description
FAXDC2 (Fatty Acid Hydroxylase Domain Containing 2) is a protein-coding gene located on chromosome 5q23.1. The encoded protein contains a fatty acid hydroxylase domain and is predicted to be involved in lipid metabolism, specifically in the hydroxylation of fatty acids. FAXDC2 is expressed in various tissues and has been implicated in cellular processes such as proliferation and differentiation. Alterations in FAXDC2 expression have been associated with certain cancers and developmental disorders, though its precise biological functions remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect lipid metabolism and cell proliferation; specific mechanism unclear. | Expression changes observed in tumor samples (COSMIC). |
| Developmental disorders | Potential role in fatty acid metabolism during development; evidence limited. | Rare variants reported in ClinVar with uncertain significance. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Medium |
| Brain | 5.8 | Low |
| Liver | 8.1 | Medium |
| Kidney | 7.3 | Medium |
| Testis | 12.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.4 | Moderate expression |
| HeLa | 6.7 | Low expression |
| HepG2 | 11.2 | Moderate expression |
| MCF7 | 8.9 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | Missense | <0.01% | Unknown; predicted possibly damaging (ClinVar). |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Unknown; uncertain significance (ClinVar). |
| c.789_790insA | Frameshift | <0.01% | Likely loss of function (COSMIC). |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Fatty acid hydroxylase activity | • Oxidoreductase activity |
| • Membrane | • Lipid metabolic process |
Pathways
• Fatty acid metabolism
• Lipid metabolism
Protein Summary
The FAXDC2 protein (UniProt Q96IV6) is a putative fatty acid hydroxylase localized to cellular membranes. It contains a conserved fatty acid hydroxylase domain and is predicted to catalyze the hydroxylation of fatty acids, contributing to lipid modification and signaling. The protein is expressed in multiple tissues, with highest levels in testis and adipose tissue. Its exact substrates and physiological roles are not fully characterized, but it may influence cell growth and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAXDC2 Knockout HEK293 Cell Line | EDJ-KQ7183 | Human | 10826 | Details Get a Quote |
| FAXDC2 Knockout A-549 Cell Line | EDJ-KQ32118 | Human | 10826 | Details Get a Quote |
| FAXDC2 Knockout HCT 116 Cell Line | EDJ-KQ32119 | Human | 10826 | Details Get a Quote |
| FAXDC2 Knockout HeLa Cell Line | EDJ-KQ32120 | Human | 10826 | Details Get a Quote |
