SERPINE2

serpin family E member 2, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 2:223975044-224039318

Previous symbols: [ "PI7" ]

Links

ENSG00000135919 ∙ NCBI:5270 ∙ OMIM:177010 ∙ HGNC:8951 ∙ Uniprot:P07093 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINE2 gene.

• Inborn genetic diseases (11 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	2	0

Variants in SERPINE2

This is a list of pathogenic ClinVar variants found in the SERPINE2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-223984765-C-A		not specified	Uncertain significance (Jun 22, 2021)
2-223991804-A-C		not specified	Uncertain significance (Dec 09, 2023)
2-223991854-C-T		not specified	Uncertain significance (Jul 17, 2023)
2-223991868-A-G		not specified	Uncertain significance (Sep 06, 2022)
2-223991941-G-A		not specified	Uncertain significance (Dec 19, 2022)
2-223998181-C-T		not specified	Uncertain significance (Feb 03, 2022)
2-223998219-G-C		not specified	Uncertain significance (Oct 26, 2022)
2-223998262-C-T		not specified	Uncertain significance (Sep 01, 2021)
2-223998297-T-C		not specified	Uncertain significance (May 16, 2023)
2-223998304-C-T		not specified	Uncertain significance (Sep 26, 2023)
2-223998312-T-C		not specified	Uncertain significance (Oct 04, 2022)
2-224001648-C-T		not specified	Uncertain significance (Apr 18, 2023)
2-224001691-G-A			Likely benign (May 13, 2018)
2-224001744-T-C		not specified	Likely benign (Mar 17, 2023)
2-224001794-A-G		not specified	Uncertain significance (Jan 20, 2023)
2-224001800-G-A		not specified	Uncertain significance (Mar 17, 2023)
2-224001855-G-A		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

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: dbNSFP

• 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