Free for academic non-profit institutions. Other users need a Commercial license
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 Formation of Fibrin Clot (Clotting Cascade) and Dissolution of Fibrin Clot. 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+ |
.44
|
|
4 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Cell adhesion PLAU signaling
.35
|
|
5 | Cell adhesion_ECM remodeling |
Cell adhesion_ECM remodeling
-
|
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 | -- |
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 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.12045 30 |
|
||
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 |
|
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
735799 | Likely Benign: not provided | 224,001,691(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
VAR_036027 | A breast cancer sample | p.Lys204Asn | |||
rs3795875 | - | p.Ile51Met |
Disorder | Aliases | PubMed IDs |
---|---|---|
rigid spine muscular dystrophy 1 |
|
|
visceral heterotaxy |
|
|
ciliary dyskinesia, primary, 1 |
|
|
kartagener syndrome |
|
|
alzheimer disease |
|