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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SDF2L1
stromal cell derived factor 2 like 1
Chromosome 22 · 22q11.21
NCBI Gene: 23753Ensembl: ENSG00000128228.6HGNC: HGNC:10676UniProt: Q9HCN8
83PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein folding chaperone complexmisfolded protein bindingprotein refoldingendoplasmic reticulumrheumatoid arthritisnasopharyngeal carcinomasystemic lupus erythematosusmucous membrane pemphigoid
✦AI Summary

SDF2L1 (stromal cell-derived factor 2-like 1) is an endoplasmic reticulum (ER)-resident chaperone protein that functions as a critical regulator of protein quality control and metabolic homeostasis. As an ER stress-inducible gene 1, SDF2L1 encodes a protein with an ER-retention motif (HDEL) and belongs to the Pmt/rt protein family 1. Mechanistically, SDF2L1 forms multiprotein complexes with HSP40 co-chaperones like ERdj3 and DNAJB11 to regulate protein folding and prevent aggregation 23. It interacts with the ER-associated degradation (ERAD) machinery and modulates substrate availability for degradation, thereby buffering misfolded protein processing 4. Additionally, SDF2L1 regulates ERAD through interaction with the trafficking protein TMED10 5. Clinically, SDF2L1 dysfunction correlates with metabolic disease: hepatic Sdf2l1 downregulation in obese and diabetic mice impairs glucose homeostasis and promotes fatty liver disease 5, while insufficient induction in diabetic patients associates with insulin resistance and steatohepatitis 5. In cancer, SDF2L1 acts as a tumor suppressor—downexpression occurs in nasopharyngeal carcinoma, and SDF2L1 overexpression inhibits cell proliferation, migration, and invasion 6. Recent evidence suggests SDF2L1 modulates oxLDL-induced ER stress and protein O-mannosylation in cardiovascular and malignant diseases 7. Thus, SDF2L1 represents a potential therapeutic target and biomarker for metabolic and neoplastic diseases.

Sources cited
1
SDF2L1 is an ER stress-inducible gene encoding a Pmt/rt family protein with ER-retention motif HDEL
PMID: 11162531
2
SDF2L1 forms complexes with ERdj3 to retain it in the ER and enhance chaperone activity for protein quality control
PMID: 31624144
3
SDF2L1 and SDF2 are essential co-factors of DNAJB11 for Polycystin-1 processing and form interdependent multiprotein complexes
PMID: 41109348
4
SDF2L1 interacts with BiP, ERAD machinery, and misfolded proinsulin to buffer substrate availability for degradation
PMID: 23444373
5
Hepatic Sdf2l1 controls feeding-induced ER stress and regulates glucose/lipid homeostasis; downregulation causes insulin resistance and steatohepatitis
PMID: 30814508
6
SDF2L1 acts as a cancer suppressor gene; its downexpression in nasopharyngeal carcinoma promotes proliferation, migration, and invasion
PMID: 33134371
7
SDF2L1 modulates oxLDL-induced ER stress, protein aggregation, and O-mannosylation in myocardial infarction and lung cancer
PMID: 41781544
Disease Associationsⓘ20
rheumatoid arthritisOpen Targets
0.22Weak
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
mucous membrane pemphigoidOpen Targets
0.03Suggestive
myositisOpen Targets
0.03Suggestive
systemic sclerodermaOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.03Suggestive
celiac diseaseOpen Targets
0.03Suggestive
melanocytic nevusOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
atopic eczemaOpen Targets
0.02Suggestive
immune system diseaseOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
dermatitisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HSPA13Shared pathway100%HSP90AB1Protein interaction100%CDC37Protein interaction100%SNX5Protein interaction99%PTGES3Protein interaction99%STIP1Protein interaction96%
Tissue Expression6 tissues
Liver
100%
Lung
26%
Bone Marrow
21%
Ovary
10%
Heart
9%
Brain
6%
Gene Interaction Network
Click a node to explore
SDF2L1HSPA13HSP90AB1CDC37SNX5PTGES3STIP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9HCN8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.33 [0.91–1.85]
RankingsWhere SDF2L1 stands among ~20K protein-coding genes
  • #5,756of 20,598
    Most Researched83
  • #16,836of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedSDF2L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Murine and human SDF2L1 is an endoplasmic reticulum stress-inducible gene and encodes a new member of the Pmt/rt protein family.
PMID: 11162531
Biochem Biophys Res Commun · 2001
1.00
2
SDF2L1 Inhibits Cell Proliferation, Migration, and Invasion in Nasopharyngeal Carcinoma.
PMID: 33134371
Biomed Res Int · 2020
0.90
3
Hepatic Sdf2l1 controls feeding-induced ER stress and regulates metabolism.
PMID: 30814508
Nat Commun · 2019
0.80
4
SDF2-like protein 1 (SDF2L1) regulates the endoplasmic reticulum localization and chaperone activity of ERdj3 protein.
PMID: 31624144
J Biol Chem · 2019
0.70
5
Location, function and role of stromal cell‑derived factors and possible implications in cancer (Review).
PMID: 33416125
Int J Mol Med · 2021
0.60