CREB1 cAMP responsive element binding protein 1
Gene ID: 1385, updated on 14-Nov-2024Gene type: protein coding
Also known as: CREB; CREB-1
- See all available tests in GTR for this gene
- Go to complete Gene record for CREB1
- Go to Variation Viewer for CREB1 variants
Summary
This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Angiomatoid fibrous histiocytoma | See labs |
| Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens. GeneReviews: Not available |
Genomic context
- Location:
- 2q33.3
- Sequence:
- Chromosome: 2; NC_000002.12 (207529962..207605988)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CREB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CREB1 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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