CRTC3 Gene - CREB Regulated Transcription Coactivator 3
Key regulator of CREB-dependent gene transcription, metabolism, and immune function
Gene Information Card
| Symbol | CRTC3 |
|---|---|
| Full Name | CREB regulated transcription coactivator 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 64784 ncbi.nlm.nih.gov/gene/64784 |
| Ensembl ID | ENSG00000140577 |
| UniProt ID | Q6UUV7 |
| OMIM ID | 608986 |
| HGNC ID | 26148 |
| Aliases | TORC3, FLJ23191, MGC129607, MGC129608 |
Description
CRTC3 (CREB regulated transcription coactivator 3) is a member of the CRTC family of transcriptional coactivators that regulate CREB-mediated gene expression. It plays a critical role in energy homeostasis, adipocyte differentiation, and immune response. CRTC3 is activated by dephosphorylation in response to cAMP and calcium signaling, and its dysregulation is implicated in metabolic disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | CRTC3 variants influence adipocyte energy metabolism and insulin sensitivity | OMIM 608986; NCBI Gene |
| Type 2 diabetes | Altered CRTC3 expression affects hepatic gluconeogenesis and insulin signaling | OMIM 608986; NCBI Gene |
| Colorectal cancer | CRTC3 overexpression may promote tumor growth via CREB pathway activation | COSMIC; NCBI Gene |
| Lung cancer | Somatic mutations and copy number alterations observed in lung adenocarcinoma | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 15.2 | Medium |
| Liver | 8.7 | Low |
| Skeletal muscle | 6.3 | Low |
| Brain | 4.1 | Low |
| Lung | 3.5 | Low |
| Colon | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.1 | Hepatocellular carcinoma cell line |
| A549 | 9.4 | Lung adenocarcinoma cell line |
| HT-29 | 7.8 | Colorectal adenocarcinoma cell line |
| MCF7 | 5.2 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | Rare | Unknown functional impact |
| c.1873G>A (p.Val625Met) | Missense | Rare | Unknown functional impact |
| c.2140_2141insA (p.Thr714Asnfs*5) | Frameshift | Rare | Predicted loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg76*, p.Thr714Asnfs*5) are predicted to truncate the protein and impair coactivator function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations described for CRTC3.
View complete mutation data:
Gene Ontology (GO)
Pathways
• CREB signaling pathway
• cAMP signaling pathway
• Calcium signaling pathway
• Insulin signaling pathway
Protein Summary
CRTC3 is a 714-amino acid protein that functions as a coactivator for CREB transcription factors. It contains a coiled-coil domain and a glutamine-rich region. Under basal conditions, CRTC3 is phosphorylated and sequestered in the cytoplasm. Upon stimulation by cAMP or calcium, it is dephosphorylated and translocates to the nucleus, where it enhances CREB-mediated transcription of target genes involved in metabolism, cell survival, and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRTC3 Knockout HEK293 Cell Line | EDJ-KQ3603 | Human | 64784 | Details Get a Quote |
| CRTC3 Knockout HeLa Cell Line | EDJ-KQ24141 | Human | 64784 | Details Get a Quote |
| CRTC3 Knockout A-549 Cell Line | EDJ-KQ25512 | Human | 64784 | Details Get a Quote |
| CRTC3 Knockout HCT 116 Cell Line | EDJ-KQ25513 | Human | 64784 | Details Get a Quote |