CRELD2: Cysteine-Rich with EGF-Like Domains 2
A key regulator of endoplasmic reticulum stress and calcium homeostasis, implicated in developmental disorders and cancer.
Gene Information Card
| Symbol | CRELD2 |
|---|---|
| Full Name | Cysteine-Rich with EGF-Like Domains 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 79174 ncbi.nlm.nih.gov/gene/79174 |
| Ensembl ID | ENSG00000100330 |
| UniProt ID | Q6UXH1 |
| OMIM ID | 607567 |
| HGNC ID | 24949 |
| Aliases | C21orf84, CRELD2, MGC13170 |
Description
CRELD2 (Cysteine-Rich with EGF-Like Domains 2) encodes a protein localized to the endoplasmic reticulum (ER) and involved in ER stress response, calcium binding, and protein folding. It is widely expressed and has been linked to developmental disorders, particularly congenital heart disease, and to cancer progression through modulation of the unfolded protein response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease | Disruption of ER calcium homeostasis and protein folding | OMIM #607567 |
| Cancer (various types) | Overexpression promotes tumor growth via ER stress adaptation | COSMIC, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Pancreas | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 9.8 | Low expression |
| K562 | 5.3 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.245C>T | Nonsense | Rare | Truncation, likely loss of function |
| c.678G>A | Missense | 0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may alter ER stress response.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • endoplasmic reticulum (GO:0005783) |
| • response to endoplasmic reticulum stress (GO:0034976) | • protein folding (GO:0006457) |
Pathways
• Unfolded Protein Response (UPR)
• Endoplasmic Reticulum Stress Pathway
Protein Summary
CRELD2 is a 408-amino acid protein containing EGF-like domains and a calcium-binding motif. It resides in the ER lumen and participates in the unfolded protein response, helping to maintain ER homeostasis. Its expression is upregulated under ER stress conditions, and it may act as a chaperone or signaling modulator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRELD2 Knockout HEK293 Cell Line | EDJ-KQ1086 | Human | 79174 | Details Get a Quote |
| CRELD2 Knockout A-549 Cell Line | EDJ-KQ20239 | Human | 79174 | Details Get a Quote |
| CRELD2 Knockout HCT 116 Cell Line | EDJ-KQ20240 | Human | 79174 | Details Get a Quote |
| CRELD2 Knockout HeLa Cell Line | EDJ-KQ20241 | Human | 79174 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
