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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]
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Formation of Fibrin Clot (Clotting Cascade) | ||
2 | Dissolution of Fibrin Clot | ||
3 | Response to elevated platelet cytosolic Ca2+ |
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4 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Cell adhesion PLAU signaling
.35
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5 | Cell adhesion_ECM remodeling |
Cell adhesion_ECM remodeling
-
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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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SERPINE2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SERPINE2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SERPINE2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Serpine2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SERPINE2 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Serpine2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SERPINE2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SERPINE2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SERPINE2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | serpine2 30 |
|
||
MGC76024 30 |
|
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.12045 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | serpine2 30 31 |
|
OneToOne | |
zgc55929 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6921 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | nec 32 |
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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 |
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rs3795875 | - |
p.Ile51Met |
Disorder | Aliases | PubMed IDs |
---|---|---|
rigid spine muscular dystrophy 1 |
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visceral heterotaxy |
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kartagener syndrome |
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primary ciliary dyskinesia |
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ciliary dyskinesia, primary, 1 |
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