TMPRSS11E

transmembrane serine protease 11E, the group of Type II transmembrane serine proteases

Basic information

Region (hg38): 4:68447463-68497604

Previous symbols: [ "TMPRSS11E2" ]

Links

ENSG00000087128 ∙ NCBI:28983 ∙ OMIM:610399 ∙ HGNC:24465 ∙ Uniprot:Q9UL52 ∙ 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 TMPRSS11E gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPRSS11E 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						0
missense			20	2	1	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	20	3	1

Variants in TMPRSS11E

This is a list of pathogenic ClinVar variants found in the TMPRSS11E region.

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

Position	Type	Phenotype	Significance	ClinVar
4-68447522-C-T		not specified	Uncertain significance (Jan 03, 2022)
4-68461867-G-A		not specified	Uncertain significance (Jan 09, 2024)
4-68461879-G-A		not specified	Likely benign (Sep 01, 2021)
4-68466707-G-T		not specified	Uncertain significance (Feb 13, 2024)
4-68471483-C-T		not specified	Uncertain significance (Jan 03, 2022)
4-68471515-A-G		not specified	Uncertain significance (Jul 09, 2021)
4-68471554-G-A		not specified	Uncertain significance (Jan 27, 2022)
4-68471619-T-G		not specified	Uncertain significance (Dec 09, 2023)
4-68474745-C-A		not specified	Uncertain significance (Oct 30, 2023)
4-68474773-A-G		TMPRSS11E-related disorder	Likely benign (Feb 26, 2021)
4-68476276-G-C		not specified	Uncertain significance (Sep 27, 2022)
4-68476416-A-G		not specified	Uncertain significance (May 17, 2023)
4-68476432-T-C		not specified	Uncertain significance (Apr 27, 2024)
4-68477481-C-G		not specified	Uncertain significance (Mar 02, 2023)
4-68477485-A-G		not specified	Uncertain significance (Oct 14, 2021)
4-68477502-G-A		not specified	Uncertain significance (Feb 16, 2023)
4-68477568-T-C		not specified	Likely benign (Apr 11, 2023)
4-68477569-A-G			Benign (Jan 11, 2019)
4-68477580-C-G		not specified	Uncertain significance (Jun 01, 2023)
4-68477589-G-A		not specified	Uncertain significance (Sep 26, 2023)
4-68478863-C-G		not specified	Uncertain significance (Oct 20, 2021)
4-68478870-G-A		not specified	Uncertain significance (Feb 22, 2023)
4-68478926-A-G		not specified	Uncertain significance (Mar 19, 2024)
4-68496650-C-G		not specified	Uncertain significance (Apr 04, 2024)
4-68496691-T-C		not specified	Uncertain significance (Dec 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMPRSS11E	protein_coding	protein_coding	ENST00000305363	10	50156

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.96e-7	0.949	124424	0	105	124529	0.000422

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.308	217	230	0.943	0.0000116	2751
Missense in Polyphen		72	84.672	0.85034		999
Synonymous	-0.159	80	78.2	1.02	0.00000391	807
Loss of Function	1.89	14	24.0	0.583	0.00000127	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000647	0.000647
Ashkenazi Jewish	0.000101	0.0000993
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000571	0.000566
Middle Eastern	0.000218	0.000217
South Asian	0.000693	0.000686
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease which possesses both gelatinolytic and caseinolytic activities. Shows a preference for Arg in the P1 position. {ECO:0000250|UniProtKB:Q5S248}.

Recessive Scores

• pRec: 0.140

Intolerance Scores

• loftool: 0.505
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.61

Haploinsufficiency Scores

• pHI: 0.202
• hipred: N
• hipred_score: 0.225
• ghis: 0.436

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmprss11e

Gene ontology

• Biological process: proteolysis;cognition
• Cellular component: extracellular region;plasma membrane;integral component of plasma membrane
• Molecular function: serine-type endopeptidase activity;serine-type peptidase activity