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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SERPINB6
serpin family B member 6
Chromosome 6 Β· 6p25.2
NCBI Gene: 5269Ensembl: ENSG00000124570.21HGNC: HGNC:8950UniProt: A0A024QZX5
75PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular matrixextracellular exosomesensory perception of soundcellular response to osmotic stresshearing loss, autosomal recessivedeafnesshearing lossAlzheimer disease
✦AI Summary

SERPINB6 is an intracellular serine protease inhibitor with multifaceted roles in cellular protection and disease pathogenesis. Primarily, it inhibits serine proteases including cathepsin G, kallikrein-8, and thrombin 1, and is abundantly expressed in mast cells where it regulates beta-tryptase activity 2. In the inner ear, SERPINB6 protects against lysosomal content leakage during stress, and loss of this protection results in sensorineural hearing loss (associated with autosomal recessive deafness 91) 2. SERPINB6 localizes to cytoplasm and extracellular regions, functioning as a cellular defense mechanism in leukocytes, epithelial cells, and endothelial cells 2. Mechanistically, SERPINB6 regulates reactive oxygen species levels in epithelial tissue 3 and controls intracellular protease activity through inhibitory complex formation 2. In glioma, SERPINB6 promotes epithelial-mesenchymal transition via PI3K/AKT/mTOR pathway activation, enhancing cellular invasion 4. Conversely, dutomycin targets SERPINB6 to activate intracellular serine proteases, inducing autophagy and apoptosis in tumor cells 5. Clinically, SERPINB6 has emerged as a biomarker with disease relevance across neurological and neoplastic conditions. Mendelian randomization studies identified SERPINB6 as a feature gene associated with Alzheimer's disease progression 6 and type 1 diabetes susceptibility 7. The amygdala neuropsin/SERPINB6 pathway regulates anxiety-related gastric hypersensitivity in functional dyspepsia 8.

Sources cited
1
SERPINB6 is abundantly expressed by mast cells, forms complexes with beta-tryptase, and protects cells by scavenging leaking lysosomal proteases
PMID: 14670919
2
SERPINB6 inhibits kallikrein-8 and cathepsin G in keratinocytes
PMID: 17761692
3
SERPINB6 is upregulated in serrated lesions and regulates ROS levels in epithelium
PMID: 36216310
4
SERPINB6 promotes epithelial-mesenchymal transition in glioma via PI3K/AKT/mTOR pathway activation
PMID: 40665565
5
Dutomycin targets SERPINB6 to activate intracellular serine proteases, inducing autophagy and apoptosis
PMID: 33517652
6
SERPINB6 was identified as a feature gene for Alzheimer's disease through Mendelian randomization screening
PMID: 39559889
7
SERPINB6 was prioritized as a novel gene associated with type 1 diabetes through immune cell-based transcriptomic Mendelian randomization
PMID: 41299435
8
The amygdala neuropsin/SERPINB6 pathway participates in anxiety-related gastric hypersensitivity in functional dyspepsia
PMID: 35179294
Disease Associationsβ“˜21
hearing loss, autosomal recessiveOpen Targets
0.59Moderate
deafnessOpen Targets
0.46Moderate
hearing lossOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.30Weak
Parkinson diseaseOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.30Weak
multiple sclerosisOpen Targets
0.30Weak
Rare genetic deafnessOpen Targets
0.27Weak
Non-syndromic genetic deafnessOpen Targets
0.18Weak
nonsyndromic genetic hearing lossOpen Targets
0.18Weak
Hearing impairmentOpen Targets
0.12Weak
Usher syndromeOpen Targets
0.12Weak
infectionOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.07Suggestive
Deafness, autosomal recessive, 91UniProt
Pathogenic Variants4
NM_004568.6(SERPINB6):c.217C>T (p.Gln73Ter)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 91
β˜…β˜†β˜†β˜†2024β†’ Residue 73
NM_004568.6(SERPINB6):c.3G>C (p.Met1Ile)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 91
β˜…β˜†β˜†β˜†2019β†’ Residue 1
NM_004568.6(SERPINB6):c.679G>T (p.Glu227Ter)Likely pathogenic
Rare genetic deafness|Melanoma
β˜…β˜†β˜†β˜†2017β†’ Residue 227
NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 91
β˜†β˜†β˜†β˜†2010β†’ Residue 245
View on ClinVar β†—
Related Genes
CTSGProtein interaction93%CARD16Protein interaction90%CASP1Protein interaction88%SERPINA5Protein interaction73%PLATProtein interaction73%KLK8Protein interaction73%
Tissue Expression6 tissues
Ovary
100%
Heart
99%
Lung
94%
Bone Marrow
58%
Liver
37%
Brain
29%
Gene Interaction Network
Click a node to explore
SERPINB6CTSGCARD16CASP1SERPINA5PLATKLK8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P35237
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.57 [0.38–0.90]
RankingsWhere SERPINB6 stands among ~20K protein-coding genes
  • #6,363of 20,598
    Most Researched75
  • #3,771of 5,498
    Most Pathogenic Variants4
  • #8,075of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedSERPINB6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Leveraging Diverse Regulated Cell Death Patterns to Identify Diagnosis Biomarkers for Alzheimer's Disease.
PMID: 39559889
J Prev Alzheimers Dis Β· 2024
1.00
2
Single-cell Transcriptomics Reveals Early Molecular and Immune Alterations Underlying the Serrated Neoplasia Pathway Toward Colorectal Cancer.
PMID: 36216310
Cell Mol Gastroenterol Hepatol Β· 2023
0.90
3
Intracellular serpin SERPINB6 (PI6) is abundantly expressed by human mast cells and forms complexes with beta-tryptase monomers.
PMID: 14670919
Blood Β· 2004
0.80
4
Immune cell-based transcriptomic Mendelian randomization and colocalization study on type 1 diabetes.
PMID: 41299435
BMC Med Β· 2025
0.70
5
SERPINB6 Promotes Epithelial-Mesenchymal Transition via PI3K/AKT/mTOR Signalling Pathway in Glioma.
PMID: 40665565
J Cell Mol Med Β· 2025
0.60