CREB1

SNP Table

variant	genotype	frequency	risk allele
rs114730628
rs2464975
rs2551940
rs2709372
rs2952769
rs369942252
rs72958143
rs2464976
rs2551639
rs2551641
rs2551642
rs2551917
rs2709356
rs2709357
rs2709398
rs2709399
rs2709400
rs889895
rs114514847
rs143117860

25331 associated SNPs in total

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Summary Blog Articles GHR Function Frequently Asked Questions

Summary

The CREB1 gene codes for cAMP response element-binding protein 1 (CREB-1). CREB-1 binds to DNA and helps turn genes “on” [R].

CREB-1 plays important roles in [R, R, R]:

Learning and memory
Obesity
Insulin resistance and type 2 diabetes
Regulation of the body’s internal clock (circadian rhythms)

Variants of CREB1 have been linked to [R]:

Rumination (repetitive negative thoughts)
Memory impairments
Depression
Schizophrenia

Protein names

cAMP responsive element binding protein 1 [Source:HGNC Symbol;Acc:HGNC:2345]

Found in These Blog Articles

A Gene That Alters Painkiller Sensitivity (CREB1)

A variant of the CREB1 gene has been associated with an increased painkiller dosage requirement. Click here to learn more.

GHR Function

Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-133 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells.

More Information

From UniProt: A CREB1 mutation has been found in a patient with multiple congenital anomalies consisting of agenesis of the corpus callosum, cerebellar hypoplasia, severe neonatal respiratory distress refractory to surfactant, thymus hypoplasia, and thyroid follicular hypoplasia. Angiomatoid fibrous histiocytoma (AFH): A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. [MIM:612160]

From NCBI Gene: 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] From UniProt: Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-133 phosphorylation. Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells.

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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