STARD3: StAR-Related Lipid Transfer Domain Containing 3
A key mediator of cholesterol transport and steroidogenesis, implicated in breast cancer and neurological disorders.
Gene Information Card
| Symbol | STARD3 |
|---|---|
| Full Name | StAR-related lipid transfer domain containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 10948 ncbi.nlm.nih.gov/gene/10948 |
| Ensembl ID | ENSG00000131788 |
| UniProt ID | Q14849 |
| OMIM ID | 606049 |
| HGNC ID | 11260 |
| Aliases | MLN64, es64, CAB1 |
Description
STARD3 (StAR-related lipid transfer domain containing 3) encodes a protein that contains a StAR-related lipid transfer (START) domain, which binds cholesterol and mediates its intracellular transport. The protein is localized to endosomes and the plasma membrane, playing a role in cholesterol trafficking to mitochondria for steroid hormone synthesis. STARD3 is amplified and overexpressed in a subset of breast cancers, particularly those with ERBB2 amplification, and is implicated in cancer cell proliferation and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Amplification and overexpression of STARD3 (often co-amplified with ERBB2) promotes cholesterol accumulation, cell proliferation, and migration. | NCBI Gene, COSMIC, ClinVar |
| Lipoid congenital adrenal hyperplasia (secondary) | Defects in cholesterol transport due to STARD3 dysfunction may impair steroidogenesis, though primary association is with STAR gene. | OMIM |
| Neurological disorders (potential) | Altered cholesterol transport in neurons may contribute to neurodegenerative conditions; limited direct evidence. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 45.2 | High |
| Breast | 12.8 | Medium |
| Brain | 8.5 | Medium |
| Liver | 6.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 22.1 | Overexpressed in ERBB2-amplified lines |
| SK-BR-3 (breast cancer) | 35.6 | High expression; co-amplified with ERBB2 |
| HepG2 (liver) | 7.4 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; functional impact unknown |
| c.682C>T (p.Arg228Trp) | Missense | 0.01% (gnomAD) | May affect cholesterol binding; not well characterized |
| Amplification (17q12) | Copy number gain | ~20% in breast cancer | Overexpression; associated with poor prognosis |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg228Trp) may reduce cholesterol binding or transport, but no confirmed loss-of-function alleles reported.
Gain of Function (GOF)
Gene amplification leading to overexpression is the primary gain-of-function mechanism in cancer.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005319 – lipid transporter activity | • GO:0015485 – cholesterol binding |
| • GO:0030301 – cholesterol transport | • GO:0008202 – steroid metabolic process |
| • GO:0005768 – endosome | • GO:0005886 – plasma membrane |
Pathways
• Cholesterol metabolism (Reactome: R-HSA-191273)
• Steroidogenesis (Reactome: R-HSA-196108)
• ERBB2 signaling in breast cancer (KEGG: hsa05224)
Protein Summary
STARD3 is a 445-amino acid protein with an N-terminal transmembrane domain and a C-terminal START domain that binds cholesterol. It localizes to late endosomes and the plasma membrane, facilitating cholesterol transfer to mitochondria for steroid hormone production. In cancer, STARD3 overexpression enhances cholesterol availability, supporting membrane synthesis and signaling. The protein interacts with ERBB2 and other partners, contributing to oncogenic pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STARD3 Knockout HEK293 Cell Line | EDJ-KQ3348 | Human | 10948 | Details Get a Quote |
| STARD3NL Knockout HEK293 Cell Line | EDJ-KQ9936 | Human | 83930 | Details Get a Quote |
| STARD3 Knockout A-549 Cell Line | EDJ-KQ24997 | Human | 10948 | Details Get a Quote |
| STARD3 Knockout HCT 116 Cell Line | EDJ-KQ24998 | Human | 10948 | Details Get a Quote |
| STARD3 Knockout HeLa Cell Line | EDC09857 | Human | 10948 | Details Get a Quote |
| STARD3NL Knockout A-549 Cell Line | EDJ-KQ35638 | Human | 83930 | Details Get a Quote |
| STARD3NL Knockout HCT 116 Cell Line | EDJ-KQ36834 | Human | 83930 | Details Get a Quote |
| STARD3NL Knockout HeLa Cell Line | EDJ-KQ36835 | Human | 83930 | Details Get a Quote |
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