STARD3NL
STARD3 N-terminal like protein
Gene Information Card
| Symbol | STARD3NL |
|---|---|
| Full Name | STARD3 N-terminal like |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 83930 ncbi.nlm.nih.gov/gene/83930 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9H2P0 |
| OMIM ID | 611759 |
| HGNC ID | 28919 |
| Aliases | MENTAL, MGC12972, STARD3 N-terminal like |
Description
STARD3NL (STARD3 N-terminal like) is a protein-coding gene located on chromosome 7p14.1. The encoded protein contains a MENTAL (MLN64 N-terminal) domain and is involved in cholesterol transport and endosomal trafficking. It interacts with STARD3 and other proteins to regulate intracellular cholesterol distribution.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may contribute to tumor progression | PMID: 14565952 |
| Niemann-Pick disease type C | Potential role in cholesterol trafficking defects | PMID: 15689499 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Heart | 6.7 | Low |
| Lung | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| HEK293 | 11.8 | Moderate expression |
| MCF7 | 18.5 | High expression |
| HepG2 | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T | Missense | <0.01% | Unknown significance |
| c.521A>G | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cholesterol transport | • endosomal transport |
| • protein binding | • membrane |
Pathways
• Cholesterol metabolism
• Endosomal trafficking
Protein Summary
STARD3NL is a 230-amino acid protein with a MENTAL domain that localizes to endosomes and the plasma membrane. It facilitates cholesterol transport by interacting with STARD3 and other lipid-binding proteins. The protein is widely expressed, with highest levels in brain and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STARD3NL Knockout HEK293 Cell Line | EDJ-KQ9936 | Human | 83930 | 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 |
