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SERPINE2 serpin family E member 2 [ Homo sapiens (human) ]

Gene ID: 5270, updated on 17-Jun-2019

Summary

Official Symbol
SERPINE2provided by HGNC
Official Full Name
serpin family E member 2provided by HGNC
Primary source
HGNC:HGNC:8951
See related
Ensembl:ENSG00000135919 MIM:177010
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GDN; PI7; PN1; PNI; PI-7; PN-1; GDNPF
Summary
This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Expression
Biased expression in placenta (RPKM 298.6), brain (RPKM 61.2) and 6 other tissues See more
Orthologs

Genomic context

See SERPINE2 in Genome Data Viewer
Location:
2q36.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (223975048..224039319, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (224839765..224904036, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat and FYVE domain containing 1 Neighboring gene mitochondrial ribosomal protein L44 Neighboring gene Sharpr-MPRA regulatory region 13948 Neighboring gene ubiquitin specific peptidase 21 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Pathways from BioSystems

  • Common Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
    Common Pathway of Fibrin Clot Formation, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
  • Dissolution of Fibrin Clot, organism-specific biosystem (from REACTOME)
    Dissolution of Fibrin Clot, organism-specific biosystemThe crosslinked fibrin multimers in a clot are broken down to soluble polypeptides by plasmin, a serine protease. Plasmin can be generated from its inactive precursor plasminogen and recruited to the...
  • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
    Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
    Intrinsic Pathway of Fibrin Clot Formation, organism-specific biosystemThe intrinsic pathway of blood clotting connects interactions among kininogen (high molecular weight kininogen, HK), prekallikrein (PK), and factor XII to the activation of clotting factor X by a ser...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686A13110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycosaminoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cerebellar granular layer morphogenesis IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus involved in sensory perception IEA
Inferred from Electronic Annotation
more info
 
innervation IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
mating plug formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood coagulation IC
Inferred by Curator
more info
PubMed 
negative regulation of blood coagulation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of plasminogen activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of platelet aggregation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein processing IC
Inferred by Curator
more info
PubMed 
negative regulation of proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of astrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell migration NAS
Non-traceable Author Statement
more info
PubMed 
regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
regulation of timing of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
secretion by cell IEA
Inferred from Electronic Annotation
more info
 
secretory granule organization IEA
Inferred from Electronic Annotation
more info
 
seminal vesicle epithelium development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular vesicle HDA PubMed 
extrinsic component of external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
platelet alpha granule IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
glia-derived nexin
Names
glial-derived neurite promoting factor
peptidase inhibitor 7
protease nexin I
serpin E2
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032907.1 RefSeqGene

    Range
    5001..69272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136528.1NP_001130000.1  glia-derived nexin isoform b precursor

    See identical proteins and their annotated locations for NP_001130000.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
    Source sequence(s)
    AC073641, AI754402, AK225823, DB325994, DC366668
    Consensus CDS
    CCDS46526.1
    UniProtKB/Swiss-Prot
    P07093
    UniProtKB/TrEMBL
    A0A024R498
    Related
    ENSP00000386412.1, ENST00000409304.5
    Conserved Domains (1) summary
    cd02051
    Location:21397
    PAI-1_nexin-1; Plasminogen activator inhibitor-1_like. Plasminogen activator inhibitor-1 (PAI-1) is the primary, fast-acting inhibitor of plasminogen activators. It is often bound to vitronectin, an abundant component of the extracellular matrix in many tissues. ...
  2. NM_001136530.1NP_001130002.1  glia-derived nexin isoform c precursor

    See identical proteins and their annotated locations for NP_001130002.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (c) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AI754402, AK295564, BX360097, DB325994, DC304261
    Consensus CDS
    CCDS46525.1
    UniProtKB/Swiss-Prot
    P07093
    Related
    ENSP00000415786.2, ENST00000447280.6
    Conserved Domains (1) summary
    cd02051
    Location:33409
    PAI-1_nexin-1; Plasminogen activator inhibitor-1_like. Plasminogen activator inhibitor-1 (PAI-1) is the primary, fast-acting inhibitor of plasminogen activators. It is often bound to vitronectin, an abundant component of the extracellular matrix in many tissues. ...
  3. NM_006216.3NP_006207.1  glia-derived nexin isoform a precursor

    See identical proteins and their annotated locations for NP_006207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AI754402, BC015663, BX360097, DB325994, DC366668
    Consensus CDS
    CCDS2460.1
    UniProtKB/Swiss-Prot
    P07093
    UniProtKB/TrEMBL
    A0A024R451
    Related
    ENSP00000258405.4, ENST00000258405.9
    Conserved Domains (1) summary
    cd02051
    Location:21398
    PAI-1_nexin-1; Plasminogen activator inhibitor-1_like. Plasminogen activator inhibitor-1 (PAI-1) is the primary, fast-acting inhibitor of plasminogen activators. It is often bound to vitronectin, an abundant component of the extracellular matrix in many tissues. ...

RNA

  1. NR_073116.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has alternate 5' exon structure and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the downstream in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC073641, BC042628, CR746616, DB325994

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    223975048..224039319 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246641.2XP_005246698.1  glia-derived nexin isoform X1

    Conserved Domains (1) summary
    cd02051
    Location:33410
    PAI-1_nexin-1; Plasminogen activator inhibitor-1_like. Plasminogen activator inhibitor-1 (PAI-1) is the primary, fast-acting inhibitor of plasminogen activators. It is often bound to vitronectin, an abundant component of the extracellular matrix in many tissues. ...
  2. XM_017004330.1XP_016859819.1  glia-derived nexin isoform X2

    UniProtKB/Swiss-Prot
    P07093
    UniProtKB/TrEMBL
    A0A024R451
    Conserved Domains (1) summary
    cd02051
    Location:21398
    PAI-1_nexin-1; Plasminogen activator inhibitor-1_like. Plasminogen activator inhibitor-1 (PAI-1) is the primary, fast-acting inhibitor of plasminogen activators. It is often bound to vitronectin, an abundant component of the extracellular matrix in many tissues. ...
  3. XM_017004332.2XP_016859821.1  glia-derived nexin isoform X3

    UniProtKB/Swiss-Prot
    P07093
    UniProtKB/TrEMBL
    A0A024R498
    Related
    ENSP00000386969.3, ENST00000409840.7
    Conserved Domains (1) summary
    cd02051
    Location:21397
    PAI-1_nexin-1; Plasminogen activator inhibitor-1_like. Plasminogen activator inhibitor-1 (PAI-1) is the primary, fast-acting inhibitor of plasminogen activators. It is often bound to vitronectin, an abundant component of the extracellular matrix in many tissues. ...
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