HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RBPJL
recombination signal binding protein for immunoglobulin kappa J region like
Chromosome 20 · 20q13.12
NCBI Gene: 11317Ensembl: ENSG00000124232.11HGNC: HGNC:13761UniProt: Q5QPV1
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromatinRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specifictype 2 diabetes mellitusneoplasmintellectual disability, autosomal recessive 58autism
✦AI Summary

RBPJL (recombination signal binding protein for immunoglobulin kappa J region like) is a transcription factor that plays critical roles in pancreatic development and bone formation. As a component of the PTF1 transcriptional complex, RBPJL cooperates with PTF1A and E proteins to regulate pancreatic acinar cell specification and maintenance 1. RBPJL is essential for exocrine pancreas development, as demonstrated by its reduced activity during acinar-to-ductal metaplasia, a precancerous transformation 2. In bone remodeling, the Fam102a-Rbpjl axis facilitates nuclear translocation of transcription factors and promotes Osterix expression, which is essential for osteoblast differentiation; loss of functional RBPJL leads to osteopenia 3. RBPJL is pancreas-enriched and regulates expression of exocrine enzymes including CTRB and CEL 4. A population-specific p.(Thr280Met) variant in RBPJL associates with type 2 diabetes risk in Amerindian populations by reducing protein stability and impairing transactivation of exocrine enzyme promoters 5. Recent genomic studies identify RBPJL mutations as subtype-specific risk factors in frontotemporal lobar degeneration with TDP-43 pathology, suggesting roles in neurodegeneration 6. RBPJL expression is also elevated in specific pancreatic cancer subtypes 7.

Sources cited
1
RBPJL assembles into PTF1 complex with PTF1A and E proteins to control pancreatic development and acinar cell maintenance
PMID: 30470852
2
RBPJL activity is reduced during acinar-to-ductal metaplasia, indicating its role in maintaining acinar cell identity
PMID: 37425649
3
Fam102a-Rbpjl axis promotes nuclear translocation of transcription factors and Osterix expression for osteoblast differentiation; Rbpjl mutation causes osteopenia
PMID: 39747056
4
RBPJL is pancreas-enriched and identified as a previously undescribed pancreatic protein
PMID: 25546435
5
Population-specific RBPJL p.(Thr280Met) variant associates with type 2 diabetes by reducing protein stability and transactivation of exocrine enzyme promoters including CTRB1
PMID: 29302047
6
RBPJL identified as a subtype-specific risk gene in frontotemporal lobar degeneration with TDP-43 pathology through rare variant analysis
PMID: 40280976
7
RBPJL is upregulated in aberrantly differentiated endocrine-exocrine (ADEX) pancreatic cancer subtype
PMID: 26909576
8
RBPJL (rbpjl) is a pancreas-specific differentiation marker whose expression recovers after acute pancreatitis in wild-type but not LAT1 knockout mice
PMID: 35431492
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.20Weak
neoplasmOpen Targets
0.05Suggestive
intellectual disability, autosomal recessive 58Open Targets
0.03Suggestive
autismOpen Targets
0.03Suggestive
intellectual disability, autosomal dominant 50Open Targets
0.03Suggestive
hereditary sensory and autonomic neuropathyOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.01Suggestive
pancreatic carcinomaOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
acute pancreatitisOpen Targets
0.01Suggestive
myeloid leukemiaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
type 1 diabetes mellitusOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
pancreatitisOpen Targets
0.00Suggestive
acute monocytic leukemiaOpen Targets
0.00Suggestive
metabolic diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EP300Protein interaction99%PTF1AProtein interaction99%SAP30LProtein interaction98%HDAC1Protein interaction97%ATXN1LProtein interaction97%KAT2BProtein interaction97%
Tissue Expression6 tissues
Liver
100%
Ovary
50%
Brain
38%
Lung
25%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
RBPJLEP300PTF1ASAP30LHDAC1ATXN1LKAT2B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5QPV1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.68–1.09]
RankingsWhere RBPJL stands among ~20K protein-coding genes
  • #16,275of 20,598
    Most Researched13
  • #11,090of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedRBPJL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic analyses identify molecular subtypes of pancreatic cancer.
PMID: 26909576
Nature · 2016
1.00
2
Fam102a translocates Runx2 and Rbpjl to facilitate Osterix expression and bone formation.
PMID: 39747056
Nat Commun · 2025
0.90
3
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
PMID: 40280976
Nat Commun · 2025
0.80
4
Transcription factor Ptf1a in development, diseases and reprogramming.
PMID: 30470852
Cell Mol Life Sci · 2019
0.70
5
Transcriptional Profile of Human Pancreatic Acinar Ductal Metaplasia.
PMID: 37425649
Gastro Hep Adv · 2023
0.60