SDF2L1 Gene - Stromal Cell Derived Factor 2 Like 1
Comprehensive genomic and proteomic analysis of SDF2L1, a member of the SDF2 family involved in endoplasmic reticulum stress response and protein quality control.
Gene Information Card
| Symbol | SDF2L1 |
|---|---|
| Full Name | Stromal Cell Derived Factor 2 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 23753 ncbi.nlm.nih.gov/gene/23753 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9HCN8 |
| OMIM ID | 607368 |
| HGNC ID | 10676 |
| Aliases | SDF2L, SDF2-like 1 |
Description
SDF2L1 (Stromal Cell Derived Factor 2 Like 1) is a protein-coding gene located on chromosome 22q11.21. It encodes a member of the SDF2 family, which is involved in endoplasmic reticulum (ER) stress response and protein quality control. The protein is thought to play a role in the unfolded protein response (UPR) and may be involved in cellular stress adaptation. SDF2L1 is broadly expressed in various tissues and is implicated in several diseases, including cancer and diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus type 2 | Altered ER stress response may impair beta-cell function | PMID: 21706003 |
| Pancreatic cancer | Overexpression linked to tumor progression and poor prognosis | PMID: 25636847 |
| Colorectal cancer | Upregulation associated with chemoresistance | PMID: 27588415 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 6.7 | Low |
| Heart | 4.2 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 5.4 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation c.100C>T likely leads to premature stop codon and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • response to unfolded protein (GO:0006986) |
| • response to endoplasmic reticulum stress (GO:0034976) | • protein binding (GO:0005515) |
Pathways
• Unfolded Protein Response (UPR) - REACTOME:R-HSA-381119
• Endoplasmic Reticulum Stress Pathway - KEGG:hsa04141
Protein Summary
The SDF2L1 protein (UniProt Q9HCN8) is a 211-amino acid protein localized to the endoplasmic reticulum. It contains a conserved SDF2 domain and is involved in the unfolded protein response. The protein interacts with other ER-resident chaperones and may assist in protein folding and quality control. Its expression is induced under ER stress conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDF2L1 Knockout HEK293 Cell Line | EDJ-KQ1080 | Human | 23753 | Details Get a Quote |
| SDF2L1 Knockout A-549 Cell Line | EDJ-KQ20219 | Human | 23753 | Details Get a Quote |
| SDF2L1 Knockout HCT 116 Cell Line | EDJ-KQ20220 | Human | 23753 | Details Get a Quote |
| SDF2L1 Knockout HeLa Cell Line | EDJ-KQ20221 | Human | 23753 | Details Get a Quote |
