STARD9
StAR-related lipid transfer domain containing 9
Gene Information Card
| Symbol | STARD9 |
|---|---|
| Full Name | StAR-related lipid transfer domain containing 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 57519 ncbi.nlm.nih.gov/gene/57519 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y6E2 |
| OMIM ID | 614760 |
| HGNC ID | 19165 |
| Aliases | FLJ20291, KIAA1300 |
Description
STARD9 encodes a protein containing a StAR-related lipid transfer (START) domain, which is involved in lipid transport and metabolism. The protein is predicted to play a role in intracellular cholesterol trafficking and may be implicated in cellular signaling and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered lipid metabolism and potential oncogenic signaling | COSMIC somatic mutation data |
| No specific Mendelian disease reported | Not applicable | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Liver | 3.1 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.0 | Moderate expression |
| HeLa | 4.2 | Low expression |
| K562 | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional impact |
| c.5678delC (p.Pro1893Leufs*2) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of START domain function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in STARD9.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • cholesterol binding |
| • intracellular lipid transport |
Pathways
• Lipid metabolism
• Cholesterol trafficking
Protein Summary
STARD9 is a 1893-amino acid protein with a C-terminal START domain that binds lipids, particularly cholesterol. It is localized to the cytoplasm and may facilitate non-vesicular lipid transfer between membranes. Expression is highest in testis, with lower levels in brain and other tissues. Somatic mutations have been identified in various cancers, but its precise role in disease remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STARD9 Knockout HEK293 Cell Line | EDJ-KQ15534 | Human | 57519 | Details Get a Quote |
| STARD9 Knockout A-549 Cell Line | EDJ-KQ45136 | Human | 57519 | Details Get a Quote |
| STARD9 Knockout HCT 116 Cell Line | EDJ-KQ46370 | Human | 57519 | Details Get a Quote |
| STARD9 Knockout HeLa Cell Line | EDJ-KQ46371 | Human | 57519 | Details Get a Quote |
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