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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PREB
prolactin regulatory element binding
Chromosome 2 · 2p23.3
NCBI Gene: 10113Ensembl: ENSG00000138073.14HGNC: HGNC:9356UniProt: B5MC98
104PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum exit siteprotein bindingmembraneregulation of COPII vesicle coatingneurodegenerative diseasemalunion fractureAlzheimer diseaseendometriosis
✦AI Summary

PREB (prolactin regulatory element binding) is a WD-motif transcription factor primarily identified for regulating pituitary gene transcription through binding to the prolactin gene promoter 1. The protein consists of 417 amino acids and exhibits structural features characteristic of WD-repeat protein families 12. Beyond its canonical role in prolactin regulation, PREB functions as a negative regulator of hepatic gluconeogenesis by directly binding prolactin core-binding elements (PCBE) in promoters of glucose-6-phosphatase and phosphoenolpyruvate carboxykinase-1, thereby suppressing their expression 3. PREB is expressed ubiquitously across human tissues with variable levels, showing particularly robust expression during embryonic development in the anterior pituitary, peripheral nervous system, developing liver, and craniofacial skeleton 2. Clinically, PREB is relevant to trisomy 2p syndrome; the gene maps to chromosome 2, a region associated with this condition characterized by facial abnormalities, skeletal defects, growth retardation, and developmental abnormalities 1. The abnormal dosage of PREB in partial trisomy 2p likely contributes to these developmental phenotypes, suggesting PREB plays critical roles in human development beyond prolactin regulation. Recent evidence demonstrates PREB regulates glucose homeostasis, positioning it as a potential therapeutic target for metabolic syndrome and type-2 diabetes 3.

Sources cited
1
PREB encodes 417 amino acids, contains WD-motif sequences, maps to chromosome 2p23, and is associated with trisomy 2p syndrome developmental abnormalities
PMID: 10920239
2
PREB is a WD-repeat gene with 416 amino acids; expressed in embryonic peripheral nervous system, liver, Rathke's pouch (anterior pituitary), and developing skeleton
PMID: 10704286
3
PREB negatively regulates hepatic gluconeogenic genes (G6pc and Pck) by binding to prolactin core-binding elements; downregulated in obesity models; involved in glucose homeostasis
PMID: 29601978
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
malunion fractureOpen Targets
0.16Weak
Alzheimer diseaseOpen Targets
0.04Suggestive
endometriosisOpen Targets
0.03Suggestive
response to statinOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
fatty liver diseaseOpen Targets
0.01Suggestive
pituitary tumorOpen Targets
0.01Suggestive
lung carcinomaOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
Pituitary prolactin cell adenomaOpen Targets
0.00Suggestive
bipolar disorderOpen Targets
0.00Suggestive
Chlamydia trachomatis infectious diseaseOpen Targets
0.00Suggestive
eating disorderOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
hepatitis C virus infectionOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEC23AProtein interaction90%MIA3Protein interaction89%RER1Protein interaction87%ABHD1Protein interaction85%SEC13Protein interaction84%LMAN1Protein interaction84%
Tissue Expression6 tissues
Liver
100%
Ovary
49%
Heart
41%
Lung
39%
Brain
13%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
PREBSEC23AMIA3RER1ABHD1SEC13LMAN1
PROTEIN STRUCTURE
Preparing viewer…
PDB5TF2 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.45–0.83]
RankingsWhere PREB stands among ~20K protein-coding genes
  • #4,608of 20,598
    Most Researched104 · top quartile
  • #7,094of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedPREB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome.
PMID: 10920239
Mamm Genome · 2000
1.00
2
The roles of preB and B cell receptors in the stepwise allelic exclusion of mouse IgH and L chain gene loci.
PMID: 10497085
Semin Immunol · 1999
0.90
3
Puppet masters of B-cell progenitor acute lymphoblastic leukemia: The preB cell receptor and the interleukin 7 receptor α.
PMID: 36805963
Eur J Immunol · 2023
0.80
4
Mapping and developmental expression analysis of the WD-repeat gene Preb.
PMID: 10704286
Genomics · 2000
0.70
5
Fetal versus adult PreB or B cells: the human VH repertoire.
PMID: 7486530
Ann N Y Acad Sci · 1995
0.60