STARD4: Steroidogenic Acute Regulatory Protein-Related Lipid Transfer Domain Containing 4
A key regulator of intracellular cholesterol transport and homeostasis
Gene Information Card
| Symbol | STARD4 |
|---|---|
| Full Name | StAR-related lipid transfer domain containing 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q22.1 |
| NCBI Gene ID | 134429 ncbi.nlm.nih.gov/gene/134429 |
| Ensembl ID | ENSG00000164111 |
| UniProt ID | Q96DR4 |
| OMIM ID | 607922 |
| HGNC ID | 18076 |
| Aliases | START domain containing 4, StARD4 |
Description
STARD4 encodes a member of the steroidogenic acute regulatory (StAR) protein-related lipid transfer (START) domain family. The protein facilitates non-vesicular intracellular transport of cholesterol from the endoplasmic reticulum to the plasma membrane and other organelles, playing a critical role in cholesterol homeostasis and lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypercholesterolemia | Altered cholesterol transport due to STARD4 dysregulation may contribute to elevated plasma cholesterol levels. | NCBI Gene, OMIM |
| Non-alcoholic fatty liver disease (NAFLD) | STARD4-mediated cholesterol trafficking influences hepatic lipid accumulation and steatosis. | NCBI Gene, PubMed |
| Atherosclerosis | Impaired cholesterol efflux and intracellular redistribution linked to STARD4 expression changes. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal gland | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Small intestine | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| A549 | 5.6 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.512A>G (p.Asn171Ser) | Missense | 0.002% (gnomAD) | Potential altered cholesterol binding |
| c.1-?_*_del | Deletion | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Deletion or nonsense mutations leading to truncated protein or absent expression impair cholesterol transport.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not reported in literature or curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cholesterol metabolism (Reactome: R-HSA-191273)
• Intracellular cholesterol transport (Reactome: R-HSA-8957322)
Protein Summary
STARD4 is a 205-amino acid protein containing a single START domain that binds and transports cholesterol. It localizes to the cytosol and facilitates non-vesicular cholesterol transfer between membranes, particularly from the endoplasmic reticulum to the plasma membrane. The protein is highly expressed in liver and steroidogenic tissues, consistent with its role in lipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STARD4 Knockout HEK293 Cell Line | EDJ-KQ9340 | Human | 134429 | Details Get a Quote |
| STARD4 Knockout A-549 Cell Line | EDJ-KQ35972 | Human | 134429 | Details Get a Quote |
| STARD4 Knockout HCT 116 Cell Line | EDJ-KQ35973 | Human | 134429 | Details Get a Quote |
| STARD4 Knockout HeLa Cell Line | EDJ-KQ35974 | Human | 134429 | Details Get a Quote |
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