1. Gene
  2. SERPIND1 - serpin family D member 1 Gene

SERPIND1 - serpin family D member 1 Gene

Homo sapiens

Also known as HC2; LS2; HCF2; HCII; HLS2; THPH10; D22S673

Gene ID: 3053 | Gene type: protein coding

About SERPIND1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,774,113-20,787,720 (from NCBI)

This gene has 2 transcripts (splice variants), 199 orthologues, 36 paralogues and is associated with 1 phenotype. Restricted expression toward liver (RPKM 330.2).

Summary

This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and Cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a Thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with Heparin Cofactor II deficiency. [provided by RefSeq, Jul 2015]

SERPIND1 Products(1)

mRNA Protein Name
NM_000185.4 NP_000176.2 heparin cofactor 2 precursor

SERPIND1 Protein Structure

Serpin

Serpin: Serpin (serine protease inhibitor) (130 - 496)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 499 a.a.
Protein Preferred Names Protein Names

heparin cofactor 2

leuserpin 2

Recombinant SERPIND1 Proteins

Cat. No. Product Name Accession Purity
HY-P77199 Serpin D1 Protein, Human (HEK293, His) P05546 (G20-S499) ≥95%

Related Diseases

Diseases Alias
Heparin Cofactor Ii Deficiency

Thrombophilia Due To Heparin Cofactor Ii Deficiency

THPH10

Hcf Ii Deficiency

Hcf2 Deficiency

Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency

Hcf 2 Deficiency

Thrombophilia Due To Heparin Cofactor 2 Deficiency

Thrombophilia, Due To Heparin Cofactor Ii Deficiency

Thrombophilia

Hypercoagulability State

Dysfibrinogenemia, Congenital

Dysfibrinogenemia

Hypodysfibrinogenemia

Familial Dysfibrinogenemia

Familial Hypodysfibrinogenemia

Hypodysfibrinogenemia, Congenital

Dysfibrinogenemia, Familial

Congenital Dysfibrinogenemia

DYSFIBRIN

Uterus Carcinoma In Situ
Thrombosis

Thrombosis Of Blood Vessel

Cervix Uteri Carcinoma In Situ

Carcinoma In Situ Of Cervix

Carcinoma In Situ Of Uterine Cervix

Cervical Intraepithelial Neoplasia

Carcinoma Of Cervix Stage 0

Cervical Intraepithelial Neoplasia Grade Iii With Severe Dysplasia

Cervix Ca In Situ

Cin Iii

Cin Iii - Carcinoma In Situ Of Cervix

Cin Iii - Severe Dyskaryosis

Severe Dysplasia Of Cervix

Severe Dysplasia Of The Cervix Uteri

Squamous Intraepithelial Neoplasia, Grade Iii

Cervix Intraepithelial Neoplasia Grade 3 Ajcc V7

Chronic Cervicitis
Prothrombin Thrombophilia

Prothrombin G20210a Thrombophilia

Hyperprothrombinemia

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type Ih/S

Mucopolysaccharidosis Ih/S

MPS1H/S

Mpsih/S

Mucopolysaccharidosis Type 1h/S

Mps1-Hs

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis I

Mucopolysaccharidosis 1h/S

Mps-Ih/S

Waardenburg Syndrome, Type 3

Waardenburg Syndrome Type 3

Klein-Waardenburg Syndrome

WS3

Waardenburg Syndrome With Upper Limb Anomalies

Waardenburg Syndrome Type Iii

Waardenburg Syndrome, Type Iii

White Forelock Syndrome With Multiple Congenital Malformations

Waardenburg Syndrome With Limb Anomalies

Waardenburg Syndrome 3

White Forelock With Malformations

Klein'S Syndrome

Cervicitis

Uterine Cervicitis

Inflammation Of Cervix

Encephalopathy, Familial, With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Neuroserpin Inclusion Bodies

FENIB

Encephalopathy, Familial, With Collins Bodies

Familial Dementia With Neuroserpin Inclusion Bodies

Familial Encephalopathy With Collins Bodies

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SERPIND1 VGNC VGNC:34475
Rattus norvegicus SERPIND1 RGD RGD:619854
Macaca mulatta SERPIND1 VGNC VGNC:77357
Canis familiaris SERPIND1 VGNC VGNC:46035
Mus musculus SERPIND1 MGD MGI:96051
Felis catus SERPIND1 VGNC VGNC:67540