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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.
SERPIND1
serpin family D member 1
Chromosome 22 Β· 22q11.21
NCBI Gene: 3053Ensembl: ENSG00000099937.12HGNC: HGNC:4838UniProt: P05546
69PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular regionprotein bindingextracellular exosomeserine-type endopeptidase inhibitor activityheparin cofactor 2 deficiencyVenous thrombosishemorrhageneurodegenerative disease
✦AI Summary

SERPIND1 (serpin family D member 1), also known as heparin cofactor II, is a serine protease inhibitor located on chromosome 22 that functions primarily in the coagulation and immune response pathways 1. As a glycosaminoglycan-binding serpin, SERPIND1 requires cofactors such as heparin and dermatan sulfate to achieve physiologically relevant inhibition rates of target proteases, with GAG binding potentially accelerating inhibition up to 10,000-fold 1. In vitro, SERPIND1 shows negligible inhibition of thrombin and tissue plasminogen activator, and no inhibition of factor Xa. Clinically, SERPIND1 deficiency causes thrombophilia, reflecting its essential role in coagulation regulation 1. Beyond coagulation, emerging evidence indicates broader pathophysiological significance. SERPIND1 expression is associated with survival outcomes in systemic sclerosis-related pulmonary hypertension, where elevated levels correlate with better prognosis 2. In glaucoma pathogenesis, SERPIND1 is upregulated and implicated in eye transparency and glucose metabolism 3. Additionally, SERPIND1 functions as an immune-related biomarker, with differential expression patterns observed in juvenile gout 4, endometrial carcinoma 5, and lung adenocarcinoma 6, suggesting roles in inflammatory and neoplastic disease processes. These findings establish SERPIND1 as a multifunctional protease inhibitor with implications extending beyond hemostasis to ocular health, systemic inflammation, and cancer immunology.

Sources cited
1
SERPIND1 is a GAG-binding serpin that requires heparin and dermatan sulfate cofactors for enhanced protease inhibition in coagulation
PMID: 22078533
2
SERPIND1 is increased in survivors of systemic sclerosis-associated pulmonary hypertension, associating with better prognosis
PMID: 37936223
3
SERPIND1 is upregulated in glaucoma and plays a vital role in eye transparency and glucose metabolism
PMID: 34214668
4
SERPIND1 (heparin cofactor 2) is uniquely highly expressed in juvenile gout and correlates with inflammatory markers CRP and ESR
PMID: 40444241
5
SERPIND1 functions as a tumor suppressor gene in an immune-related gene signature for endometrial carcinoma prognosis
PMID: 38355782
6
SERPIND1 is among 11 differentially expressed immune genes in a prognostic model for lung adenocarcinoma
PMID: 36728032
Disease Associationsβ“˜21
heparin cofactor 2 deficiencyOpen Targets
0.72Strong
Venous thrombosisOpen Targets
0.67Moderate
hemorrhageOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.27Weak
thrombotic diseaseOpen Targets
0.12Weak
Varicose veinsOpen Targets
0.10Suggestive
ovarian cancerOpen Targets
0.08Suggestive
Glanzmann thrombasthenia 1Open Targets
0.05Suggestive
COVID-19Open Targets
0.05Suggestive
thrombocytopenia 7Open Targets
0.05Suggestive
Von Willebrand diseaseOpen Targets
0.05Suggestive
platelet-type von Willebrand diseaseOpen Targets
0.05Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.05Suggestive
HypercholesterolemiaOpen Targets
0.04Suggestive
Rare hemorrhagic disorder due to a constitutional platelet anomalyOpen Targets
0.04Suggestive
essential thrombocythemiaOpen Targets
0.04Suggestive
platelet-type bleeding disorder 15Open Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
thrombocythemia 1Open Targets
0.04Suggestive
glaucomaOpen Targets
0.04Suggestive
Thrombophilia due to heparin cofactor 2 deficiencyUniProt
Pathogenic Variants4
NM_000185.4(SERPIND1):c.1147A>T (p.Lys383Ter)Likely pathogenic
Hemorrhage
β˜…β˜†β˜†β˜†β†’ Residue 383
NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu)Pathogenic
Heparin cofactor II deficiency
β˜†β˜†β˜†β˜†2001β†’ Residue 462
NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs)Pathogenic
Heparin cofactor II deficiency
β˜†β˜†β˜†β˜†1996β†’ Residue 477
NM_000185.4(SERPIND1):c.321dup (p.Val108fs)Pathogenic
Heparin cofactor II deficiency
β˜†β˜†β˜†β˜†1996β†’ Residue 108
View on ClinVar β†—
Related Genes
ANGPTL6Shared pathway100%PLGProtein interaction98%THBDProtein interaction96%AHSGProtein interaction96%LPAProtein interaction94%ITIH2Protein interaction87%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SERPIND1ANGPTL6PLGTHBDAHSGLPAITIH2
PROTEIN STRUCTURE
Preparing viewer…
PDB1JMO Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.70–1.23]
RankingsWhere SERPIND1 stands among ~20K protein-coding genes
  • #6,844of 20,598
    Most Researched69
  • #3,778of 5,498
    Most Pathogenic Variants4
  • #12,983of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedSERPIND1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Serpin-glycosaminoglycan interactions.
PMID: 22078533
Methods Enzymol Β· 2011
1.00
2
Proteomic biomarkers for survival in systemic sclerosis-associated pulmonary hypertension.
PMID: 37936223
Respir Res Β· 2023
0.90
3
Proteome Characterization of Glaucoma Aqueous Humor.
PMID: 34214668
Mol Cell Proteomics Β· 2021
0.80
4
TMT-based quantitative proteomics analysis of serum-derived exosomes in patients with juvenile gout.
PMID: 40444241
Front Endocrinol (Lausanne) Β· 2025
0.70
5
Unveiling the levels and significance of different serpin family proteins in aqueous humor dynamics.
PMID: 40389884
BMC Ophthalmol Β· 2025
0.60