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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CRELD2
CRELD disulfide isomerase 2
Chromosome 22 · 22q13.33
NCBI Gene: 79174Ensembl: ENSG00000184164.16HGNC: HGNC:28150UniProt: Q6UXH1
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular matrixGO:0005615Golgi apparatusneurodegenerative diseaseosteoporosisosteoarthritis, hiptotal hip arthroplasty
✦AI Summary

CRELD2 (Cysteine-Rich with EGF-Like Domains 2) functions as an endoplasmic reticulum (ER) stress-inducible secretory protein with diverse physiological roles. Its primary function involves protein disulfide isomerase activity and regulation of cellular stress responses 1. CRELD2 expression and secretion are dramatically induced by ER stress through the PERK-ATF4 pathway, suggesting its crucial role in the unfolded protein response 12. The protein serves multiple tissue-specific functions: it regulates α4β2 nicotinic acetylcholine receptor expression by interacting with their large cytoplasmic domains and impairing membrane transport 3, acts as an angiogenic growth factor promoting ischemic heart repair after myocardial infarction 4, and functions as an adipokine involved in adipocyte differentiation 5. CRELD2's secretion is regulated by V-ATPase-mediated intravesicular acidification and requires Golgi apparatus transport 6. The gene exhibits extensive alternative splicing producing multiple isoforms with tissue-specific expression patterns 7. Clinically, CRELD2 is associated with various pathological conditions including cardiovascular diseases, kidney diseases, cancer, and chr22 liver diseases, particularly those involving ER stress 12. Its role in promoting malignant progression through TGF-β/SMAD and NF-κB pathway activation makes it a potential therapeutic target 2.

Sources cited
1
CRELD2 is ER stress-inducible and associated with multiple diseases involving ER stress
PMID: 36936176
2
CRELD2 is induced by PERK-ATF4 pathway and promotes cancer progression through TGF-β/SMAD and NF-κB pathways
PMID: 40821803
3
CRELD2 specifically interacts with α4β2 nicotinic acetylcholine receptor subunits and regulates their expression
PMID: 16238698
4
CRELD2 functions as an angiogenic growth factor promoting ischemic heart repair
PMID: 39196188
5
CRELD2 acts as an adipokine involved in adipocyte differentiation
PMID: 40695744
6
CRELD2 secretion is regulated by V-ATPase-mediated intravesicular acidification and requires Golgi transport
PMID: 24687431
7
CRELD2 shows extensive alternative splicing and tissue-specific expression patterns
PMID: 16919896
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
osteoporosisOpen Targets
0.31Weak
osteoarthritis, hipOpen Targets
0.29Weak
total hip arthroplastyOpen Targets
0.26Weak
acneOpen Targets
0.26Weak
skin agingOpen Targets
0.22Weak
ALG12-congenital disorder of glycosylationOpen Targets
0.16Weak
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
azoospermiaOpen Targets
0.07Suggestive
ovarian neoplasmOpen Targets
0.05Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
myocardial infarctionOpen Targets
0.05Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.05Suggestive
spermatogenic failure 3Open Targets
0.05Suggestive
spermatogenic failure 55Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
spermatogenic failure 60Open Targets
0.05Suggestive
spermatogenic failure 74Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MANFProtein interaction94%PDIA4Protein interaction94%HYOU1Protein interaction94%SDF2L1Protein interaction94%DNAJB11Protein interaction94%HSPA5Protein interaction80%
Tissue Expression6 tissues
Liver
100%
Lung
35%
Bone Marrow
34%
Ovary
27%
Heart
24%
Brain
8%
Gene Interaction Network
Click a node to explore
CRELD2MANFPDIA4HYOU1SDF2L1DNAJB11HSPA5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6UXH1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.61–1.12]
RankingsWhere CRELD2 stands among ~20K protein-coding genes
  • #10,948of 20,598
    Most Researched35
  • #11,526of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedCRELD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CRELD2, endoplasmic reticulum stress, and human diseases.
PMID: 36936176
Front Endocrinol (Lausanne) · 2023
1.00
2
Cysteine-rich with EGF-like domains 2 (CRELD2) is an endoplasmic reticulum stress-inducible angiogenic growth factor promoting ischemic heart repair.
PMID: 39196188
Nat Cardiovasc Res · 2024
0.90
3
GREB1L, CRELD2 and ITGA10 expression in the human developmental and postnatal kidneys: an immunohistochemical study.
PMID: 33460985
Acta Histochem · 2021
0.80
4
CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region.
PMID: 16919896
Gene · 2006
0.70
5
Endoplasmic reticulum stress-induced CRELD2 promotes APMAP-mediated activation of TGF-β/SMAD and NF-κB pathways in esophageal squamous cell carcinoma.
PMID: 40821803
Front Immunol · 2025
0.60