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.

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 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
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