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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q36.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (223975045..224039286, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (224458312..224522521, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (224839762..224904003, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SERPINE2 promotes liver cancer metastasis by inhibiting c-Cbl-mediated EGFR ubiquitination and degradation.
Title: SERPINE2 promotes liver cancer metastasis by inhibiting c-Cbl-mediated EGFR ubiquitination and degradation.
Integrating artificial intelligence in osteosarcoma prognosis: the prognostic significance of SERPINE2 and CPT1B biomarkers.
Title: Integrating artificial intelligence in osteosarcoma prognosis: the prognostic significance of SERPINE2 and CPT1B biomarkers.
Targeting tumor exosomal circular RNA cSERPINE2 suppresses breast cancer progression by modulating MALT1-NF-B-IL-6 axis of tumor-associated macrophages.
Title: Targeting tumor exosomal circular RNA cSERPINE2 suppresses breast cancer progression by modulating MALT1-NF-𝜅B-IL-6 axis of tumor-associated macrophages.
Upregulation of SERPINE2 Results in Poor Prognosis of Hepatoblastoma via Promoting Invasion Abilities.
Title: Upregulation of SERPINE2 Results in Poor Prognosis of Hepatoblastoma via Promoting Invasion Abilities.
[Bioinformatic analysis of immune correlation and prognostic value of SERPINs in glioma].
Title: [Bioinformatic analysis of immune correlation and prognostic value of SERPINs in glioma].
SERPINE2/PN-1 regulates the DNA damage response and radioresistance by activating ATM in lung cancer.
Title: SERPINE2/PN-1 regulates the DNA damage response and radioresistance by activating ATM in lung cancer.
High expression level of serpin peptidase inhibitor clade E member 2 is associated with poor prognosis in lung adenocarcinoma.
Title: High expression level of serpin peptidase inhibitor clade E member 2 is associated with poor prognosis in lung adenocarcinoma.
SERPINE2 is an oral cancer-promoting factor that induces angiogenesis and lymphangiogenesis.
Title: SERPINE2 is an oral cancer-promoting factor that induces angiogenesis and lymphangiogenesis.
Bone morphogenetic protein 2 upregulates SERPINE2 expression through noncanonical SMAD2/3 and p38 MAPK signaling pathways in human granulosa-lutein cells.
Title: Bone morphogenetic protein 2 upregulates SERPINE2 expression through noncanonical SMAD2/3 and p38 MAPK signaling pathways in human granulosa-lutein cells.
[SERPINE2 promotes cellular migration and invasion in esophageal squamous cell carcinoma by activating beta-catenin].
Title: [SERPINE2 promotes cellular migration and invasion in esophageal squamous cell carcinoma by activating β-catenin].

Submit: New GeneRIF Correction See all GeneRIFs (78)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D2S2574 (e-PCR)
- UniSTS:46657

Ndufb11 (e-PCR), detects polymorphism
- UniSTS:498527

RH47841 (e-PCR)
- UniSTS:45668

RH16314 (e-PCR)
- UniSTS:50570

SERPINE2_1428 (e-PCR)
- UniSTS:280992

SHGC-34895 (e-PCR)
- UniSTS:7370

G31099 (e-PCR)
- UniSTS:66546

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

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular vesicle	HDA more info	PubMed
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in platelet alpha granule	IDA Inferred from Direct Assay more info	PubMed
located_in platelet alpha granule	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

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

NG_032907.2 RefSeqGene

Range

5034..69275

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_645

mRNA and Protein(s)

NM_001136528.2 → NP_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:21 → 395

serpinE2_GDN; serpin family E member 2, glia derived nexin (GDN)
NM_001136530.1 → NP_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:33 → 409

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. ...
NM_006216.4 → NP_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:21 → 398

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

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

223975045..224039286 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DMR3

Conserved Domains (1) summary

cd19573
Location:33 → 408

serpinE2_GDN; serpin family E member 2, glia derived nexin (GDN)
XM_017004330.2 → XP_016859819.1 glia-derived nexin isoform X2

UniProtKB/Swiss-Prot

B2R6A4, B4DIF2, P07093, Q53S15, Q5D0C4

UniProtKB/TrEMBL

B4DMR3

Conserved Domains (1) summary

cd02051
Location:21 → 398

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. ...
XM_017004332.3 → XP_016859821.1 glia-derived nexin isoform X3

UniProtKB/TrEMBL

B4DMR3

Related

ENSP00000386969.3, ENST00000409840.7

Conserved Domains (1) summary

cd19573
Location:21 → 395

serpinE2_GDN; serpin family E member 2, glia derived nexin (GDN)