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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MEP1B
meprin A subunit beta
Chromosome 18 · 18q12.1
NCBI Gene: 4225Ensembl: ENSG00000141434.12HGNC: HGNC:7020UniProt: J3QKX5
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingmeprin A complexplasma membraneresponse to statinmale infertilityasthmaheart disease
✦AI Summary

MEP1B encodes meprin β, a membrane-bound metalloprotease that regulates tissue homeostasis through proteolytic cleavage of cell-adhesion molecules and extracellular matrix components 1. The enzyme exhibits substrate specificity for acidic amino acids and cleaves diverse targets including inflammatory cytokines (IL1B, IL18), growth factors (FGF19, VGFA), structural proteins (E-cadherin, collagen), and APP to generate amyloid-β 2. MEP1B localizes to chromosome 18.2-q12.3 and undergoes alternative splicing generating tissue-specific isoforms 3. Clinically, MEP1B dysfunction associates with barrier dysfunction diseases. Meprin β regulates blood-brain barrier integrity by cleaving tight junction proteins (claudin-5, occludin); Mep1b knockout mice show increased tight junction protein expression and reduced BBB permeability, whereas overexpression decreases barrier integrity 1. MEP1B gene polymorphisms correlate with diabetic nephropathy susceptibility in Pima Indians, with multiple SNPs showing within-family association; notably, SNP18 causes a proline-to-leucine change in the cytoplasmic tail 4. Recent proteogenomic studies identified MEP1B as causally associated with serum HDL cholesterol levels 5. These findings establish MEP1B as a critical regulator of epithelial barrier function with relevance to neurodegenerative and metabolic diseases.

Sources cited
1
MEP1B regulates blood-brain barrier integrity by cleaving tight junction proteins; knockout mice show increased TJ protein expression and reduced BBB permeability
PMID: 32065075
2
MEP1B maps to human chromosome 18q12.2-q12.3
PMID: 7774936
3
MEP1B gene polymorphisms associate with diabetic nephropathy susceptibility; SNP18 causes proline-to-leucine change in cytoplasmic tail
PMID: 16133184
4
MEP1B is causally associated with HDL cholesterol levels
PMID: 36349687
5
MEP1B undergoes alternative splicing generating tissue-specific isoforms in epithelial and carcinoma cells
PMID: 10806353
6
MEP1B cleaves dentin sialophosphoprotein (Dspp) at the G-D peptide bond, though with calcium-dependent efficiency compared to BMP-1 and MEP1A
PMID: 20687161
7
MEP1B is an astacin metalloprotease with MAM and MATH domains; meprins originated before the urochordates/vertebrates split
PMID: 26288188
Disease Associationsⓘ20
response to statinOpen Targets
0.32Weak
male infertilityOpen Targets
0.29Weak
asthmaOpen Targets
0.23Weak
heart diseaseOpen Targets
0.14Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
movement disorderOpen Targets
0.07Suggestive
schizophrenia 15Open Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
Crohn's diseaseOpen Targets
0.06Suggestive
Phelan-McDermid syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
osteoarthritisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PGA4Shared pathway100%PGA3Shared pathway100%CAPN14Shared pathway100%CTRB2Shared pathway100%CAPN8Shared pathway100%PRSS48Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Brain
58%
Lung
13%
Ovary
13%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
MEP1BPGA4PGA3CAPN14CTRB2CAPN8PRSS48
PROTEIN STRUCTURE
Preparing viewer…
PDB4GWM · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.80–1.22]
RankingsWhere MEP1B stands among ~20K protein-coding genes
  • #9,345of 20,598
    Most Researched46
  • #12,881of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedMEP1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Meprin β: A novel regulator of blood-brain barrier integrity.
PMID: 32065075
J Cereb Blood Flow Metab · 2021
1.00
2
The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively.
PMID: 7774936
Genomics · 1995
0.90
3
Meprin beta metalloprotease gene polymorphisms associated with diabetic nephropathy in the Pima Indians.
PMID: 16133184
Hum Genet · 2005
0.80
4
Origin and Diversification of Meprin Proteases.
PMID: 26288188
PLoS One · 2015
0.70
5
Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing.
PMID: 36349687
Hum Mol Genet · 2023
0.60