STARD8: A RhoGAP Domain-Containing Protein Involved in Cell Signaling and Cancer
Comprehensive gene card for STARD8 (StAR-related lipid transfer domain containing 8), a GTPase-activating protein for Rho family GTPases.
Gene Information Card
| Symbol | STARD8 |
|---|---|
| Full Name | StAR-related lipid transfer domain containing 8 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 56945 ncbi.nlm.nih.gov/gene/56945 |
| Ensembl ID | ENSG00000130023 |
| UniProt ID | Q9Y2Q0 |
| OMIM ID | 300689 |
| HGNC ID | 19170 |
| Aliases | DLC3, KIAA0189, START domain-containing protein 8 |
Description
STARD8 (StAR-related lipid transfer domain containing 8) encodes a member of the RhoGAP (Rho GTPase-activating protein) family. The protein contains a sterile alpha motif (SAM) domain, a RhoGAP domain, and a START (StAR-related lipid transfer) domain. It functions as a GTPase-activating protein for RhoA and Cdc42, regulating cytoskeletal dynamics and cell migration. STARD8 is implicated in tumor suppression and is frequently deleted or downregulated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss of STARD8 expression leads to increased RhoA activity, promoting cell proliferation and invasion. | PMID: 21573172 |
| Breast cancer | STARD8 downregulation correlates with poor prognosis; re-expression inhibits tumor growth. | PMID: 23468904 |
| Colorectal cancer | STARD8 promoter hypermethylation reduces expression, contributing to metastasis. | PMID: 26045208 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.1 | Low |
| Testis | 6.7 | Medium |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Embryonic kidney cells |
| HepG2 | 3.2 | Hepatocellular carcinoma cells |
| MCF7 | 2.1 | Breast cancer cells |
| A549 | 1.8 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | <0.1% | Truncated protein, loss of RhoGAP domain |
| c.1456G>A (p.Gly486Arg) | Missense | <0.1% | Reduced GAP activity |
| c.1789_1790del (p.Leu597fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the RhoGAP domain lead to loss of GAP activity, resulting in elevated RhoA signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for STARD8.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for STARD8.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rho GTPase binding |
| • lipid binding | • cytoskeleton |
| • cell migration | • signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• Regulation of actin cytoskeleton
Protein Summary
STARD8 is a 1,200-amino-acid protein containing an N-terminal SAM domain, a central RhoGAP domain, and a C-terminal START domain. The RhoGAP domain catalyzes the hydrolysis of GTP bound to RhoA and Cdc42, inactivating these signaling proteins. The START domain may mediate lipid transfer or binding. STARD8 localizes to focal adhesions and regulates cell adhesion and motility. Its loss is associated with increased metastatic potential in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STARD8 Knockout HEK293 Cell Line | EDJ-KQ6732 | Human | 9754 | Details Get a Quote |
| STARD8 Knockout A-549 Cell Line | EDJ-KQ31125 | Human | 9754 | Details Get a Quote |
| STARD8 Knockout HeLa Cell Line | EDJ-KQ31127 | Human | 9754 | Details Get a Quote |
| STARD8 Knockout HCT 116 Cell Line | EDJ-KQ29775 | Human | 9754 | Details Get a Quote |
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