CALCOCO2
Calcium Binding and Coiled-Coil Domain 2
Gene Information Card
| Symbol | CALCOCO2 |
|---|---|
| Full Name | Calcium binding and coiled-coil domain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 10241 ncbi.nlm.nih.gov/gene/10241 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q13137 |
| OMIM ID | 604587 |
| HGNC ID | 1439 |
| Aliases | NDP52, FLJ10726, FLJ32115 |
Description
CALCOCO2 encodes NDP52, a calcium-binding coiled-coil domain protein that functions as a selective autophagy receptor. It recognizes ubiquitin-coated intracellular pathogens (xenophagy) and damaged mitochondria (mitophagy) by binding LC3-family proteins via its LIR motif and ubiquitin via its UBAN-like domain. NDP52 also participates in NF-kappaB signaling and antiviral responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Crohn disease | Risk variant rs2241880 (T300A) impairs autophagy-mediated clearance of intracellular bacteria, leading to chronic intestinal inflammation. | PMID: 21102463; GWAS catalog |
| Salmonella enterica infection | NDP52 targets ubiquitin-coated Salmonella for autophagic degradation; loss of function increases bacterial survival. | PMID: 19592251 |
| Amyotrophic lateral sclerosis | Mutations in OPTN and TBK1 disrupt NDP52-mediated mitophagy; indirect involvement. | PMID: 26365305 |
| Breast cancer | Overexpression of CALCOCO2 correlates with poor prognosis; promotes tumor growth via autophagy modulation. | PMID: 29057922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 14.2 | Medium |
| Spleen | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 7.1 | Low |
| Brain | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical adenocarcinoma |
| HEK 293 | 15.2 | Embryonic kidney |
| THP-1 | 22.1 | Monocytic leukemia |
| HepG2 | 9.8 | Hepatocellular carcinoma |
| A549 | 12.3 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2241880 (T300A) | missense | ~40% (global) | Reduces binding to LC3C and impairs autophagic clearance of bacteria; risk allele for Crohn disease. |
| rs12324931 | intronic | ~15% (European) | Associated with altered CALCOCO2 expression in immune cells. |
| c.124C>T (p.R42W) | missense | <0.1% | Rare variant; functional impact unknown. |
Mutation functional classification
Loss of Function (LOF)
T300A reduces autophagy receptor activity, impairing xenophagy and mitophagy.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Selective autophagy (R-HSA-9663891)
• Xenophagy (R-HSA-9663891)
• Mitophagy (R-HSA-5205647)
• NF-kappaB signaling (R-HSA-975138)
Protein Summary
NDP52 (CALCOCO2) is a 446-amino-acid protein containing an N-terminal SKICH domain, a central coiled-coil region, and a C-terminal UBAN-like domain. It binds ubiquitin and LC3/GABARAP family proteins, acting as a bridge between ubiquitinated cargo and the autophagic machinery. NDP52 is essential for selective autophagy of bacteria (xenophagy) and damaged mitochondria (mitophagy). It also interacts with TBK1 and OPTN to coordinate autophagic responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALCOCO2 Knockout HEK293 Cell Line | EDJ-KQ2730 | Human | 10241 | Details Get a Quote |
| CALCOCO2 Knockout A-549 Cell Line | EDJ-KQ23593 | Human | 10241 | Details Get a Quote |
| CALCOCO2 Knockout HCT 116 Cell Line | EDJ-KQ23594 | Human | 10241 | Details Get a Quote |
| CALCOCO2 Knockout HeLa Cell Line | EDJ-KQ23595 | Human | 10241 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
