CREBL2: cAMP Responsive Element Binding Protein Like 2
A basic leucine zipper transcription factor with roles in cellular signaling and potential implications in cancer and metabolic disorders.
Gene Information Card
| Symbol | CREBL2 |
|---|---|
| Full Name | cAMP Responsive Element Binding Protein Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 1389 ncbi.nlm.nih.gov/gene/1389 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | O60519 |
| OMIM ID | 606441 |
| HGNC ID | 2348 |
| Aliases | CREB-2, CREB2, CREBL2 |
Description
CREBL2 (cAMP Responsive Element Binding Protein Like 2) is a protein-coding gene located on chromosome 12p13.31. It encodes a basic leucine zipper (bZIP) transcription factor that binds to cAMP response elements (CRE) and may regulate gene expression in response to cellular signaling. The protein is involved in cell proliferation, differentiation, and stress responses. CREBL2 has been implicated in various cancers and metabolic conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence cell cycle and apoptosis; potential oncogenic role | COSMIC, NCBI Gene |
| Colorectal cancer | Mutations and expression changes observed in tumor samples | COSMIC |
| Type 2 diabetes | Potential involvement in insulin signaling and glucose metabolism via CREB pathway | NCBI Gene, UniProt |
| Obesity | Linked to adipocyte differentiation and energy homeostasis | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells; moderate expression |
| HeLa | 7.8 | Cervical cancer cells; low expression |
| MCF7 | 6.5 | Breast cancer cells; low expression |
| HepG2 | 5.9 | Liver cancer cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown; likely benign |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Unknown; possibly damaging |
| c.523_524insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) predicted to truncate the protein and disrupt DNA binding.
Gain of Function (GOF)
Not well characterized; some missense variants may alter transcriptional activity.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• cAMP signaling pathway
• CREB transcription factor pathway
• Transcriptional regulation by bZIP transcription factors
Protein Summary
The CREBL2 protein (UniProt O60519) is a 351-amino acid transcription factor containing a basic leucine zipper (bZIP) domain. It forms homodimers or heterodimers with other bZIP proteins and binds to cAMP response elements (CRE) in DNA. The protein is predominantly nuclear and regulates genes involved in cell growth, differentiation, and metabolism. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CREBL2 Knockout HEK293 Cell Line | EDJ-KQ4344 | Human | 1389 | Details Get a Quote |
| CREBL2 Knockout A-549 Cell Line | EDJ-KQ26844 | Human | 1389 | Details Get a Quote |
| CREBL2 Knockout HCT 116 Cell Line | EDJ-KQ26845 | Human | 1389 | Details Get a Quote |
| CREBL2 Knockout HeLa Cell Line | EDJ-KQ26846 | Human | 1389 | Details Get a Quote |
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