TFPI2

tissue factor pathway inhibitor 2

Basic information

Region (hg38): 7:93885396-93890753

Links

ENSG00000105825 ∙ NCBI:7980 ∙ OMIM:600033 ∙ HGNC:11761 ∙ Uniprot:P48307 ∙ 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 TFPI2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TFPI2 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	1	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	10	1	2

Variants in TFPI2

This is a list of pathogenic ClinVar variants found in the TFPI2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-93886837-G-A		not specified	Uncertain significance (Feb 16, 2023)
7-93886846-G-A			Benign (Apr 16, 2018)
7-93886872-G-A		not specified	Uncertain significance (Dec 12, 2023)
7-93886873-G-A		not specified	Uncertain significance (Nov 08, 2024)
7-93887327-T-C		not specified	Uncertain significance (Sep 16, 2021)
7-93887429-G-A		not specified	Uncertain significance (May 13, 2024)
7-93889082-C-A		not specified	Uncertain significance (May 06, 2024)
7-93889100-C-T			Likely benign (May 24, 2018)
7-93889120-G-T		not specified	Uncertain significance (Jul 26, 2024)
7-93889142-C-G		not specified	Uncertain significance (Mar 01, 2024)
7-93889157-T-A		not specified	Uncertain significance (Jan 02, 2024)
7-93890129-G-A			Benign (May 24, 2018)
7-93890140-C-T		not specified	Uncertain significance (Jun 28, 2022)
7-93890146-T-G			Benign (May 24, 2018)
7-93890175-G-C		not specified	Uncertain significance (Jul 06, 2021)
7-93890612-C-T		not specified	Uncertain significance (Jan 02, 2024)
7-93890650-G-C		not specified	Uncertain significance (Jul 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TFPI2	protein_coding	protein_coding	ENST00000222543	5	5595

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000843	0.801	125655	0	93	125748	0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.145	140	135	1.04	0.00000720	1539
Missense in Polyphen		41	45.556	0.9		452
Synonymous	0.240	49	51.2	0.957	0.00000256	435
Loss of Function	1.09	6	9.67	0.620	4.07e-7	124

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00161	0.00159
Ashkenazi Jewish	0.00	0.00
East Asian	0.00186	0.00185
Finnish	0.00	0.00
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.00186	0.00185
South Asian	0.000172	0.000163
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin. {ECO:0000269|PubMed:7872799}.

Recessive Scores

• pRec: 0.177

Intolerance Scores

• loftool: 0.663
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.38

Haploinsufficiency Scores

• pHI: 0.316
• hipred: N
• hipred_score: 0.246

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.378

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tfpi2

Zebrafish Information Network

• Gene name: tfpi2
• Affected structure: cardiac muscle cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: blood coagulation;negative regulation of endopeptidase activity;cellular response to fluid shear stress
• Cellular component: extracellular space;extracellular matrix
• Molecular function: serine-type endopeptidase inhibitor activity;extracellular matrix structural constituent