CCDC47: Coiled-Coil Domain Containing 47
A key regulator of calcium homeostasis and ER stress response, implicated in developmental disorders and cancer.
Gene Information Card
| Symbol | CCDC47 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 47 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 57003 ncbi.nlm.nih.gov/gene/57003 |
| Ensembl ID | ENSG00000108556 |
| UniProt ID | Q96A33 |
| OMIM ID | 618260 |
| HGNC ID | 28124 |
| Aliases | CALCOCO2, FLJ10769, MSTP049 |
Description
CCDC47 (Coiled-Coil Domain Containing 47) encodes a protein localized to the endoplasmic reticulum (ER) membrane. It is involved in calcium homeostasis, ER stress response, and protein quality control. Mutations in CCDC47 are associated with autosomal recessive intellectual developmental disorder 64 (MRT64) and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder 64 (MRT64) | Loss-of-function mutations impair ER calcium homeostasis and stress response, leading to neurodevelopmental defects. | OMIM #618260; PMID: 31630790 |
| Hepatocellular carcinoma | Overexpression of CCDC47 promotes cell proliferation and metastasis via ER stress pathway modulation. | PMID: 31209404 |
| Breast cancer | CCDC47 upregulation correlates with poor prognosis and may influence calcium signaling. | PMID: 32989245 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.3 | Low |
| Kidney | 12.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.7 | Hepatocellular carcinoma cell line |
| MCF7 | 14.3 | Breast cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 7.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.334C>T (p.Arg112*) | Nonsense | Rare | Loss of function; associated with MRT64 |
| c.512G>A (p.Arg171Gln) | Missense | Rare | Impaired ER calcium binding; pathogenic in MRT64 |
| c.788A>G (p.Asn263Ser) | Missense | Unknown | Potential gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg112*, p.Arg171Gln) reduce protein stability or calcium-binding capacity, leading to ER stress dysregulation and neurodevelopmental disorders.
Gain of Function (GOF)
Overexpression or specific missense variants (e.g., p.Asn263Ser) may enhance cell proliferation and metastasis in cancers.
Dominant Negative (DN)
Not reported for CCDC47.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum membrane | • calcium ion binding |
| • protein homodimerization activity | • response to endoplasmic reticulum stress |
| • negative regulation of apoptotic process |
Pathways
• Unfolded Protein Response (UPR)
• Calcium signaling pathway
Protein Summary
CCDC47 is a 483-amino acid protein with a coiled-coil domain and a transmembrane region, anchored in the ER membrane. It binds calcium ions via its EF-hand-like motif and interacts with other ER-resident proteins to maintain calcium homeostasis and mitigate ER stress. The protein is ubiquitously expressed, with highest levels in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC47 Knockout HEK293 Cell Line | EDJ-KQ12755 | Human | 57003 | Details Get a Quote |
| CCDC47 Knockout HCT 116 Cell Line | EDJ-KQ40605 | Human | 57003 | Details Get a Quote |
| CCDC47 Knockout A-549 Cell Line | EDJ-KQ41867 | Human | 57003 | Details Get a Quote |
| CCDC47 Knockout HeLa Cell Line | EDJ-KQ41869 | Human | 57003 | Details Get a Quote |
