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

    Gene ID: 5270, updated on 3-Nov-2024

    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; AllianceGenome:HGNC:8951
    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
    NEW
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    Genomic context

    See SERPINE2 in Genome Data Viewer
    Location:
    2q36.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (223975045..224039286, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (224458312..224522521, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (224839762..224904003, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WD repeat and FYVE domain containing 1 Neighboring gene uncharacterized LOC124907989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17184 Neighboring gene mitochondrial ribosomal protein L44 Neighboring gene uncharacterized LOC124907990 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:224874015-224875214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:224879805-224880304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17186 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:224891400-224892039 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:224892040-224892678 Neighboring gene uncharacterized LOC124907991 Neighboring gene Sharpr-MPRA regulatory region 13948 Neighboring gene USP21 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686A13110

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycosaminoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type endopeptidase inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellar granular layer morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of mechanical stimulus involved in sensory perception IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innervation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mating plug formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of blood coagulation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of plasminogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of plasminogen activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of platelet aggregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein processing IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of astrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of timing of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in secretion by cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in secretory granule organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in seminal vesicle epithelium development IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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_032907.2 RefSeqGene

      Range
      5034..69275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_645

    mRNA and Protein(s)

    1. NM_001136528.2NP_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
      Consensus CDS
      CCDS46526.1
      UniProtKB/TrEMBL
      B4DMR3
      Related
      ENSP00000386412.1, ENST00000409304.6
      Conserved Domains (1) summary
      cd19573
      Location:21395
      serpinE2_GDN; serpin family E member 2, glia derived nexin (GDN)
    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/TrEMBL
      B4DMR3
      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_006216.4NP_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)
      AC073641
      Consensus CDS
      CCDS2460.1
      UniProtKB/Swiss-Prot
      B2R6A4, B4DIF2, P07093, Q53S15, Q5D0C4
      UniProtKB/TrEMBL
      B4DMR3
      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_073116.2 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      223975045..224039286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246641.3XP_005246698.1  glia-derived nexin isoform X1

      UniProtKB/TrEMBL
      B4DMR3
      Conserved Domains (1) summary
      cd19573
      Location:33408
      serpinE2_GDN; serpin family E member 2, glia derived nexin (GDN)
    2. XM_017004330.2XP_016859819.1  glia-derived nexin isoform X2

      UniProtKB/Swiss-Prot
      B2R6A4, B4DIF2, P07093, Q53S15, Q5D0C4
      UniProtKB/TrEMBL
      B4DMR3
      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_017004332.3XP_016859821.1  glia-derived nexin isoform X3

      UniProtKB/TrEMBL
      B4DMR3
      Related
      ENSP00000386969.3, ENST00000409840.7
      Conserved Domains (1) summary
      cd19573
      Location:21395
      serpinE2_GDN; serpin family E member 2, glia derived nexin (GDN)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      224458312..224522521 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342563.1XP_054198538.1  glia-derived nexin isoform X1

    2. XM_054342564.1XP_054198539.1  glia-derived nexin isoform X2

      UniProtKB/Swiss-Prot
      B2R6A4, B4DIF2, P07093, Q53S15, Q5D0C4
    3. XM_054342565.1XP_054198540.1  glia-derived nexin isoform X3