SERPINE2
serpin family E member 2, the group of Serpin peptidase inhibitors
Basic information
Region (hg38): 2:223975045-224039318
Previous symbols: [ "PI7" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (44 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINE2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001136528.2. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 40 | 42 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 40 | 3 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SERPINE2 | protein_coding | protein_coding | ENST00000447280 | 9 | 64208 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.730 | 0.270 | 125735 | 0 | 13 | 125748 | 0.0000517 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.59 | 170 | 239 | 0.711 | 0.0000134 | 2690 |
| Missense in Polyphen | 50 | 89.877 | 0.55631 | 1066 | ||
| Synonymous | -0.390 | 104 | 99.1 | 1.05 | 0.00000653 | 807 |
| Loss of Function | 3.20 | 3 | 17.4 | 0.172 | 8.24e-7 | 210 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000881 | 0.0000879 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000341 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin.;
- Pathway
- miR-targeted genes in epithelium - TarBase;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;Dissolution of Fibrin Clot;Intrinsic Pathway of Fibrin Clot Formation;Hemostasis;Common Pathway of Fibrin Clot Formation;Formation of Fibrin Clot (Clotting Cascade)
(Consensus)
Recessive Scores
- pRec
- 0.639
Intolerance Scores
- loftool
- 0.0962
- rvis_EVS
- -0.4
- rvis_percentile_EVS
- 26.53
Haploinsufficiency Scores
- pHI
- 0.270
- hipred
- Y
- hipred_score
- 0.794
- ghis
- 0.501
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.802
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Serpine2
- Phenotype
- immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- blood coagulation;negative regulation of cell population proliferation;negative regulation of plasminogen activation;negative regulation of sodium ion transport;negative regulation of endopeptidase activity;negative regulation of protein processing;negative regulation of phosphatidylinositol 3-kinase signaling;cerebellar granular layer morphogenesis;negative regulation of blood coagulation;negative regulation of cell growth;regulation of cell migration;secretion by cell;secretory granule organization;negative regulation of protein catabolic process;mating plug formation;negative regulation of proteolysis;negative regulation of smoothened signaling pathway;regulation of timing of cell differentiation;positive regulation of astrocyte differentiation;detection of mechanical stimulus involved in sensory perception;regulation of synaptic transmission, glutamatergic;long-term synaptic potentiation;innervation;seminal vesicle epithelium development;negative regulation of platelet aggregation
- Cellular component
- extracellular region;extracellular space;cytosol;platelet alpha granule;extrinsic component of external side of plasma membrane;neuromuscular junction;collagen-containing extracellular matrix;extracellular vesicle
- Molecular function
- serine-type endopeptidase inhibitor activity;signaling receptor binding;protein binding;glycosaminoglycan binding;heparin binding