SERPINE2 Gene (Protein Coding)

Serpin Family E Member 2

GC02M223975
GIFtS:
42
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. [provide... See more...

Aliases for SERPINE2 Gene

Aliases for SERPINE2 Gene

  • Serpin Family E Member 2 2 3 5
  • GDN 2 3 4
  • PN1 2 3 4
  • Serpin Peptidase Inhibitor, Clade E (Nexin, Plasminogen Activator Inhibitor Type 1), Member 2 2 3
  • Peptidase Inhibitor 7 3 4
  • Glia-Derived Nexin 3 4
  • Protease Nexin I 3 4
  • Serpin E2 3 4
  • PI-7 3 4
  • PN-1 3 4
  • PI7 3 4
  • PNI 2 3
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade E (Nexin, Plasminogen Activator Inhibitor Type 1), Member 2 2
  • Glial-Derived Neurite Promoting Factor 3
  • Glial-Derived Nexin 1 2
  • Protease Nexin 1 4
  • SERPINE2 5
  • GDNPF 3
  • Nexin 2

External Ids for SERPINE2 Gene

Previous HGNC Symbols for SERPINE2 Gene

  • PI7

Previous GeneCards Identifiers for SERPINE2 Gene

  • GC02M222862
  • GC02M223560
  • GC02M224803
  • GC02M225042
  • GC02M224665
  • GC02M224548
  • GC02M224839
  • GC02M216691

Summaries for SERPINE2 Gene

Entrez Gene Summary for SERPINE2 Gene

  • 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]

GeneCards Summary for SERPINE2 Gene

SERPINE2 (Serpin Family E Member 2) is a Protein Coding gene. Diseases associated with SERPINE2 include Rigid Spine Muscular Dystrophy 1 and Visceral Heterotaxy. Among its related pathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include signaling receptor binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINE1.

UniProtKB/Swiss-Prot Summary for SERPINE2 Gene

  • Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin.

Gene Wiki entry for SERPINE2 Gene

Additional gene information for SERPINE2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINE2 Gene

Genomics for SERPINE2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SERPINE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J224037 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 255.7 +1.0 1017 4.2 ZBTB10 CTCF MAX SMAD4 SAP130 ZNF341 GABPB1 RAD21 TEAD3 KLF9 SERPINE2 lnc-MRPL44-1 lnc-WDFY1-3 piR-35950 MRPL44
GH02J224008 Enhancer 0.8 Ensembl ENCODE 25.2 +29.6 29617 3 CEBPA REST ZNF316 NFE2 NFE2L2 MAFK JUND HNF4A MAFG MAFF HSALNG0022612 SERPINE2 piR-35950 lnc-WDFY1-3 MRPL44
GH02J223994 Enhancer 1 Ensembl ENCODE 12.2 +43.6 43555 2.5 CEBPA THAP11 CEBPB ARNT FOXA2 MAX NBN EP300 MIER3 BCL6 SERPINE2 MRPL44 WDFY1 lnc-WDFY1-2 HSALNG0022612
GH02J224084 Enhancer 0.8 Ensembl ENCODE 12.3 -47.0 -46982 4.2 BRCA1 CEBPB MAX EP300 RAD21 RFX5 STAT3 TBP PRDM6 USF2 piR-38716-082 SERPINE2 piR-38129-065 HSALNG0022616 HSALNG0022615 FAM124B
GH02J223997 Enhancer 0.8 ENCODE 12.2 +41.2 41196 0.9 CEBPA HOMEZ SMAD4 SAP130 RXRA RARA TEAD3 BCL6 JUND CREM SERPINE2 MRPL44 WDFY1 lnc-WDFY1-2 HSALNG0022612
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINE2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERPINE2

Top Transcription factor binding sites by QIAGEN in the SERPINE2 gene promoter:
  • Chx10
  • FAC1
  • Nkx3-1
  • Nkx3-1 v1
  • RORalpha1

Genomic Locations for SERPINE2 Gene

Latest Assembly
chr2:223,975,045-224,039,318
(GRCh38/hg38)
Size:
64,274 bases
Orientation:
Minus strand

Previous Assembly
chr2:224,839,762-224,904,003
(GRCh37/hg19 by Entrez Gene)
Size:
64,242 bases
Orientation:
Minus strand

chr2:224,839,829-224,904,036
(GRCh37/hg19 by Ensembl)
Size:
64,208 bases
Orientation:
Minus strand

Genomic View for SERPINE2 Gene

Genes around SERPINE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINE2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINE2 Gene

Proteins for SERPINE2 Gene

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  • Protein details for SERPINE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07093-GDN_HUMAN
    Recommended name:
    Glia-derived nexin
    Protein Accession:
    P07093
    Secondary Accessions:
    • B2R6A4
    • B4DIF2
    • Q53S15
    • Q5D0C4

    Protein attributes for SERPINE2 Gene

    Size:
    398 amino acids
    Molecular mass:
    44002 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SERPINE2 Gene

    Alternative splice isoforms for SERPINE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINE2 Gene

Protein Expression for SERPINE2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPINE2 Gene

  • Glycosylation at Asn118 and Asn159
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPINE2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay products for research

No data available for DME Specific Peptides for SERPINE2 Gene

Domains & Families for SERPINE2 Gene

Gene Families for SERPINE2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for SERPINE2 Gene

InterPro:
Blocks:
  • Serpin
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINE2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55211, highly similar to Glia-derived nexin (B4DIF2_HUMAN)
  • Serpin E2 (GDN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07093

UniProtKB/Swiss-Prot:

GDN_HUMAN :
  • Belongs to the serpin family.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINE2: view

Function for SERPINE2 Gene

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Molecular function for SERPINE2 Gene

UniProtKB/Swiss-Prot Function:
Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin.

Phenotypes From GWAS Catalog for SERPINE2 Gene

Gene Ontology (GO) - Molecular Function for SERPINE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IMP 19855083
GO:0005102 signaling receptor binding IEA,IPI 17379830
GO:0005515 protein binding IPI 3279057
GO:0005539 glycosaminoglycan binding IDA 19855083
GO:0008201 heparin binding IDA 1939253
genes like me logo Genes that share ontologies with SERPINE2: view
genes like me logo Genes that share phenotypes with SERPINE2: view

Animal Models for SERPINE2 Gene

MGI Knock Outs for SERPINE2:

Animal Models for research

  • Taconic Biosciences Mouse Models for SERPINE2

miRNA for SERPINE2 Gene

miRTarBase miRNAs that target SERPINE2

Inhibitory RNAs for research

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SERPINE2 Gene

Localization for SERPINE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINE2 Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINE2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 4
cytoskeleton 2
nucleus 2
endosome 2
lysosome 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SERPINE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS --
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005829 cytosol IDA 19855083
GO:0031091 platelet alpha granule IDA,IMP 19855083
GO:0031232 extrinsic component of external side of plasma membrane IDA 19855083
genes like me logo Genes that share ontologies with SERPINE2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERPINE2 Gene

Pathways & Interactions for SERPINE2 Gene

genes like me logo Genes that share pathways with SERPINE2: view

Pathways by source for SERPINE2 Gene

2 GeneGo (Thomson Reuters) pathways for SERPINE2 Gene
  • Cell adhesion PLAU signaling
  • Cell adhesion_ECM remodeling

Gene Ontology (GO) - Biological Process for SERPINE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007596 blood coagulation IEA,TAS --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0009611 response to wounding IEA --
genes like me logo Genes that share ontologies with SERPINE2: view

No data available for SIGNOR curated interactions for SERPINE2 Gene

Drugs & Compounds for SERPINE2 Gene

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(6) Drugs for SERPINE2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for SERPINE2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINE2: view

Transcripts for SERPINE2 Gene

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mRNA/cDNA for SERPINE2 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SERPINE2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINE2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d ^ 13 ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - -
SP2: - - - - - - - - - - -
SP3: -
SP4: - - - - - - - - - -
SP5:
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - -
SP8: - -
SP9: - - - - -
SP10: - - - - - - - - -

ExUns: 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SERPINE2 Gene

GeneLoc Exon Structure for
SERPINE2

Expression for SERPINE2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERPINE2 Gene

mRNA expression in normal human tissues for SERPINE2 Gene
mRNA expression by GTEx for SERPINE2 GenemRNA expression by BioGPS for SERPINE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SERPINE2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (15.7), Amniocyte (12.1), and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINE2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERPINE2

SOURCE GeneReport for Unigene cluster for SERPINE2 Gene:

Hs.38449

Evidence on tissue expression from TISSUES for SERPINE2 Gene

  • Nervous system(5)
  • Skin(4.9)
  • Lung(3.9)
  • Intestine(3.8)
  • Kidney(3.8)
  • Bone(3.1)
  • Pancreas(2.7)
  • Heart(2.7)
  • Muscle(2.6)
  • Blood(2.3)
  • Lymph node(2.2)
  • Liver(2.1)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with SERPINE2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINE2 Gene

Orthologs for SERPINE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINE2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SERPINE2 30 31
  • 99.43 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SERPINE2 30 31
  • 88.16 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SERPINE2 30 31
  • 86.6 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Serpine2 30 17 31
  • 84.21 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SERPINE2 31
  • 84 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Serpine2 30
  • 83.29 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SERPINE2 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SERPINE2 30 31
  • 76.46 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SERPINE2 31
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia serpine2 30
  • 68.72 (n)
MGC76024 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.12045 30
Zebrafish
(Danio rerio)
 Actinopterygii serpine2 30 31
  • 59.15 (n)
 OneToOne
zgc55929 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6921 30
Fruit Fly
(Drosophila melanogaster)
 Insecta nec 32
  • 30 (a)
Species where no ortholog for SERPINE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SERPINE2 Gene

ENSEMBL:
Gene Tree for SERPINE2 (if available)
TreeFam:
Gene Tree for SERPINE2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINE2: view image

Paralogs for SERPINE2 Gene

Paralogs for SERPINE2 Gene

(19) SIMAP similar genes for SERPINE2 Gene using alignment to 4 proteins:

  • GDN_HUMAN
  • C9JN98_HUMAN
  • C9JRK5_HUMAN
  • C9K031_HUMAN

Pseudogenes.org Pseudogenes for SERPINE2 Gene

genes like me logo Genes that share paralogs with SERPINE2: view

Variants for SERPINE2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERPINE2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs760828083 Likely Benign: not provided 224,001,691(-) G/A
NM_001136528.2(SERPINE2):c.210C>T (p.Asp70=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
VAR_036027 A breast cancer sample p.Lys204Asn
rs3795875 - p.Ile51Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SERPINE2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SERPINE2 Gene

Variant ID Type Subtype PubMed ID
nsv213199 CNV deletion 16902084

Variation tolerance for SERPINE2 Gene

Residual Variation Intolerance Score: 22.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINE2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINE2 Gene

Disorders for SERPINE2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SERPINE2 Gene - From: COP

Disorder Aliases PubMed IDs
rigid spine muscular dystrophy 1
  • rsmd1
visceral heterotaxy
  • heterotaxia
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • ciliary motility disorder
ciliary dyskinesia, primary, 1
  • cild1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERPINE2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SERPINE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERPINE2 Gene

Publications for SERPINE2 Gene

  1. Genetic associations with hypoxemia and pulmonary arterial pressure in COPD. (PMID: 19017876) Castaldi PJ … Silverman EK (Chest 2009) 3 23 41
  2. Polymorphic variation in surfactant protein B is associated with COPD exacerbations. (PMID: 18550614) Foreman MG … Silverman EK (The European respiratory journal 2008) 3 23 41
  3. The SERPINE2 gene is associated with chronic obstructive pulmonary disease in two large populations. (PMID: 17446335) Zhu G … International COPD Genetics Network (ICGN) Investigators (American journal of respiratory and critical care medicine 2007) 3 23 41
  4. The gene for the serpin thrombin inhibitor (PI7), protease nexin I, is located on human chromosome 2q33-q35 and on syntenic regions in the mouse and sheep genomes. (PMID: 7665170) Carter RE … Festoff BW (Genomics 1995) 2 3 23
  5. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3

ExternalLinks

View latest publications for SERPINE2 gene in Mastermind

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Sources for SERPINE2 Gene