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

Gene ID: 5270, updated on 10-Dec-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
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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
  • 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 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)

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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

    UniProtKB/TrEMBL
    B4DMR3
  2. XM_054342564.1XP_054198539.1  glia-derived nexin isoform X2

    UniProtKB/Swiss-Prot
    B2R6A4, B4DIF2, P07093, Q53S15, Q5D0C4
    UniProtKB/TrEMBL
    B4DMR3
  3. XM_054342565.1XP_054198540.1  glia-derived nexin isoform X3

    UniProtKB/TrEMBL
    B4DMR3