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GeneE
26 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.
SERPING1
serpin family G member 1
Chromosome 11 Β· 11q12.1
NCBI Gene: 710Ensembl: ENSG00000149131.18HGNC: HGNC:1228UniProt: E9KL26
244PubMed Papers
21Diseases
1Drugs
374Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular matrixprotein bindingextracellular exosomeblood microparticlehereditary angioedema with C1Inh deficiencyhereditary angioedema type 1hereditary angioedemaC1 inhibitor deficiency
✦AI Summary

SERPING1 encodes C1 esterase inhibitor (C1-INH), a serine protease inhibitor that functions as the primary regulator of the classical complement pathway 1. C1-INH forms proteolytically inactive stoichiometric complexes with C1r and C1s proteases, controlling complement activation 2. Beyond complement regulation, C1-INH is the major controller of the kallikrein-kinin system and regulates blood coagulation and fibrinolysis 2. Deficiency or dysfunction of SERPING1-encoded C1-INH causes hereditary angioedema (HAE), an autosomal dominant disorder affecting approximately 1 in 50,000 people worldwide 1. SERPING1 mutations account for types I and II HAE: type I involves quantitative C1-INH deficiency (most common), while type II involves dysfunctional protein 2. Over 748 different SERPING1 variants have been documented, including de novo mutations occurring in ~15% of cases 3. C1-INH deficiency leads to uncontrolled kallikrein-kinin system activation, generating bradykinin and causing recurrent angioedema affecting subcutaneous tissues, gastrointestinal tract, and upper airways 2. Clinically, HAE typically presents in early adulthood with nonpitting edema triggered by stress, infection, or trauma 1. Current treatments include C1-INH concentrate infusions, kallikrein inhibitors, and bradykinin receptor antagonists for acute attacks, with long-term prophylaxis using similar agents 1. Emerging evidence suggests SERPING1 may also function as a tumor suppressor in lung adenocarcinoma 4.

Sources cited
1
SERPING1 encodes C1-INH; mutations cause autosomal dominant HAE affecting 1/50,000 people; types I and II HAE result from SERPING1 mutations; clinical presentation and treatment approaches
PMID: 36609679
2
C1-INH deficiency causes hereditary angioedema; documents 748 different SERPING1 variants; C1-INH controls kallikrein-kinin system; deficiency leads to bradykinin generation and angioedema; describes type I and II HAE phenotypes
PMID: 31517426
3
De novo SERPING1 mutations occur in ~15% of HAE cases; SERPING1 gene screening recommended for suspected hereditary angioedema
PMID: 30416009
4
SERPING1 exhibits tumor suppressor function in lung adenocarcinoma via TSC2/mTOR pathway; elevated SERPING1 associated with improved prognosis
PMID: 39962118
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
hereditary angioedema with C1Inh deficiencyOpen Targets
0.82Strong
hereditary angioedema type 1Open Targets
0.75Strong
hereditary angioedemaOpen Targets
0.69Moderate
C1 inhibitor deficiencyOpen Targets
0.63Moderate
genetic disorderOpen Targets
0.60Moderate
hereditary angioedema type 2Open Targets
0.59Moderate
angioedemaOpen Targets
0.58Moderate
hereditary angioedema type 3Open Targets
0.50Moderate
Bartholin gland diseaseOpen Targets
0.50Moderate
complement deficiencyOpen Targets
0.46Moderate
asthmaOpen Targets
0.41Moderate
erectile dysfunctionOpen Targets
0.37Weak
Chronic Obstructive AsthmaOpen Targets
0.31Weak
immune system diseaseOpen Targets
0.24Weak
lower respiratory tract diseaseOpen Targets
0.23Weak
ImmunodeficiencyOpen Targets
0.21Weak
immunodeficiency diseaseOpen Targets
0.21Weak
schizophreniaOpen Targets
0.21Weak
pneumoniaOpen Targets
0.19Weak
major depressive disorderOpen Targets
0.18Weak
Angioedema, hereditary, 1UniProt
Pathogenic Variants374
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs)Pathogenic
not provided|Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 451
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)Pathogenic
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor|not provided|Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 466
NM_000062.3(SERPING1):c.950del (p.Asn317fs)Pathogenic
Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 317
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)Pathogenic
Hereditary angioedema type 1|not provided|SERPING1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 494
NM_000062.3(SERPING1):c.51+1G>TPathogenic
Hereditary angioedema type 1|not provided
β˜…β˜…β˜†β˜†2025
NM_000062.3(SERPING1):c.1350dup (p.Glu451fs)Pathogenic
Hereditary angioedema type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 451
NM_000062.3(SERPING1):c.728T>C (p.Leu243Pro)Pathogenic
Hereditary angioedema type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 243
NM_000062.3(SERPING1):c.506T>C (p.Phe169Ser)Pathogenic
Hereditary angioedema type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 169
NM_000062.3(SERPING1):c.51+3A>CPathogenic
not provided|Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2025
NM_000062.3(SERPING1):c.1A>G (p.Met1Val)Pathogenic
Hereditary angioedema type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_000062.3(SERPING1):c.1030-1G>TPathogenic
Hereditary angioedema type 1|not provided
β˜…β˜…β˜†β˜†2025
NM_000062.3(SERPING1):c.994del (p.Val332fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 332
NM_000062.3(SERPING1):c.897G>A (p.Trp299Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_000062.3(SERPING1):c.164del (p.Phe55fs)Pathogenic
not provided|Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 55
NM_000062.3(SERPING1):c.936del (p.His314fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 314
NM_000062.3(SERPING1):c.667C>T (p.Gln223Ter)Pathogenic
Hereditary angioedema type 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 223
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg)Pathogenic
not provided|Hereditary angioedema type 1|Malignant tumor of urinary bladder
β˜…β˜…β˜†β˜†2024β†’ Residue 184
NM_000062.3(SERPING1):c.752T>C (p.Leu251Pro)Likely pathogenic
not provided|Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2024β†’ Residue 251
NM_000062.3(SERPING1):c.551-1G>CPathogenic
not provided|Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2024
NM_000062.3(SERPING1):c.810CAA[2] (p.Asn272del)Likely pathogenic
not provided|Hereditary angioedema type 1
β˜…β˜…β˜†β˜†2024β†’ Residue 272
View on ClinVar β†—
Drug Targets1
CONESTAT ALFAApproved
Plasma protease C1 inhibitor exogenous protein
hereditary angioedema
Related Genes
CFPProtein interaction100%CD46Protein interaction100%CD55Protein interaction100%KNG1Protein interaction100%A2MProtein interaction100%ALBProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Ovary
30%
Lung
23%
Heart
9%
Brain
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SERPING1CFPCD46CD55KNG1A2MALB
PROTEIN STRUCTURE
Preparing viewer…
PDB5DU3 Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.28]
RankingsWhere SERPING1 stands among ~20K protein-coding genes
  • #1,599of 20,598
    Most Researched244 Β· top 10%
  • #831of 1,025
    FDA-Approved Drug Targets1
  • #148of 5,498
    Most Pathogenic Variants374 Β· top 5%
  • #975of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedSERPING1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
PMID: 36609679
Adv Ther Β· 2023
1.00
2
WNT inhibitor SP5-mediated SERPING1 suppresses lung adenocarcinoma progression via TSC2/mTOR pathway.
PMID: 39962118
Cell Death Dis Β· 2025
0.90
3
Angioedema.
PMID: 28291095
Crit Care Med Β· 2017
0.80
4
Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese.
PMID: 21526158
PLoS One Β· 2011
0.72
5
[Not Available].
PMID: 30416009
Presse Med Β· 2019
0.70