HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SERPINA6
serpin family A member 6
Chromosome 14 Β· 14q32.13
NCBI Gene: 866Ensembl: ENSG00000170099.7HGNC: HGNC:1540UniProt: A0A2Z4LCH4
108PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615steroid bindingmolecular carrier activityextracellular exosomecorticosteroid-binding globulin deficiencyplasma protein metabolism diseasefemur fracturegenetic disorder
✦AI Summary

SERPINA6 encodes corticosteroid-binding globulin (CBG), the major transport protein for glucocorticoids and progestins in vertebrate blood 1. CBG binds >85% of circulating glucocorticoids, serving as a crucial regulator of cortisol bioavailability and transport 2. The protein functions through a buffering mechanism where targeted proteolytic cleavage by neutrophil elastase reduces CBG binding affinity, potentially increasing 'free' glucocorticoid levels at inflammatory sites 2. Genetic variants in SERPINA6 significantly influence plasma cortisol levels and CBG concentrations, with genome-wide association studies identifying this locus as the primary genetic determinant of morning plasma cortisol variation 13. Expression quantitative trait analyses demonstrate that SERPINA6 variants affect hepatic CBG expression and have trans-effects on adipose tissue gene expression, suggesting altered cortisol delivery to peripheral tissues 3. SERPINA6 variants also influence diurnal and stress-induced cortisol patterns in children, with higher polygenic risk scores associated with elevated hypothalamic-pituitary-adrenal axis activity 4. Clinically, genetic variation in SERPINA6 contributes to cardiovascular disease risk through altered cortisol signaling pathways 3, and CBG deficiency is associated with increased mortality in septic shock 5.

Sources cited
1
SERPINA6 encodes CBG, the major cortisol-binding protein, and genetic variants influence plasma cortisol levels
PMID: 25010111
2
CBG binds >85% of circulating glucocorticoids and is regulated by neutrophil elastase cleavage
PMID: 39788946
3
SERPINA6 variants affect hepatic CBG expression and peripheral tissue gene expression, contributing to cardiovascular disease risk
PMID: 33469137
4
SERPINA6 genetic variants influence diurnal and stress-induced cortisol patterns in children
PMID: 29679879
5
CBG deficiency in septic shock results in 3-fold higher mortality
PMID: 38941154
Disease Associationsβ“˜21
corticosteroid-binding globulin deficiencyOpen Targets
0.64Moderate
plasma protein metabolism diseaseOpen Targets
0.31Weak
femur fractureOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
cystic fibrosisOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
familial glucocorticoid deficiencyOpen Targets
0.05Suggestive
pancreatitisOpen Targets
0.05Suggestive
gliomaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
Nijmegen breakage syndromeOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
endometriosisOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
rheumatoid arthritisOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Corticosteroid-binding globulin deficiencyUniProt
Pathogenic Variants2
NM_001756.4(SERPINA6):c.164_165del (p.Val55fs)Likely pathogenic
Corticosteroid-binding globulin deficiency
β˜†β˜†β˜†β˜†2021β†’ Residue 55
NM_001756.4(SERPINA6):c.32G>A (p.Trp11Ter)Pathogenic
Corticosteroid-binding globulin deficiency
β˜†β˜†β˜†β˜†2001β†’ Residue 11
View on ClinVar β†—
Related Genes
SHBGProtein interaction100%POMCProtein interaction85%TRPV1Protein interaction72%GPR55Protein interaction71%CYP11A1Shared pathway14%STARShared pathway14%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Lung
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SERPINA6SHBGPOMCTRPV1GPR55CYP11A1STAR
PROTEIN STRUCTURE
Preparing viewer…
PDB4C41 Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.49–1.01]
RankingsWhere SERPINA6 stands among ~20K protein-coding genes
  • #4,413of 20,598
    Most Researched108 Β· top quartile
  • #4,304of 5,498
    Most Pathogenic Variants2
  • #9,787of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedSERPINA6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cortisol, Stress, and Disease-Bidirectional Associations; Role for Corticosteroid-Binding Globulin?
PMID: 38941154
J Clin Endocrinol Metab Β· 2024
1.00
2
Harsh parenting and rs11621961 at the
PMID: 41491671
Stress Β· 2026
0.90
3
Associations Between
PMID: 34484290
Front Genet Β· 2021
0.80
4
Investigation of genetic variants, birthweight and hypothalamic-pituitary-adrenal axis function suggests a genetic variant in the SERPINA6 gene is associated with corticosteroid binding globulin in the western Australia pregnancy cohort (Raine) study.
PMID: 24691024
PLoS One Β· 2014
0.70
5
The NE/AAT/CBG axis regulates adipose tissue glucocorticoid exposure.
PMID: 39788946
Nat Commun Β· 2025
0.60