TMPRSS11B

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

Basic information

Region (hg38): 4:68226653-68245694

Links

ENSG00000185873 ∙ NCBI:132724 ∙ ∙ HGNC:25398 ∙ Uniprot:Q86T26 ∙ 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 TMPRSS11B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPRSS11B 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			26	2		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in TMPRSS11B

This is a list of pathogenic ClinVar variants found in the TMPRSS11B region.

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

Position	Type	Phenotype	Significance	ClinVar
4-68227931-T-G		not specified	Uncertain significance (Jan 04, 2024)
4-68228029-A-G		not specified	Uncertain significance (Dec 18, 2023)
4-68228797-A-T		not specified	Uncertain significance (Aug 13, 2021)
4-68228800-A-C		not specified	Uncertain significance (Feb 28, 2023)
4-68228834-T-C		not specified	Uncertain significance (Jun 01, 2023)
4-68228841-A-C		not specified	Uncertain significance (Feb 28, 2023)
4-68229295-T-C		not specified	Likely benign (Feb 27, 2024)
4-68229343-C-T		not specified	Uncertain significance (Jan 25, 2023)
4-68229464-G-T		not specified	Uncertain significance (Sep 17, 2021)
4-68231237-T-C		not specified	Uncertain significance (Apr 24, 2024)
4-68231374-C-T		not specified	Uncertain significance (Dec 26, 2023)
4-68232380-T-C		not specified	Uncertain significance (Oct 14, 2023)
4-68232407-T-C		not specified	Uncertain significance (Dec 13, 2023)
4-68232414-T-C		not specified	Uncertain significance (Apr 22, 2022)
4-68234484-G-A		not specified	Uncertain significance (Dec 22, 2023)
4-68234505-T-C		not specified	Uncertain significance (Oct 20, 2023)
4-68234546-G-C		not specified	Uncertain significance (Aug 13, 2021)
4-68234600-A-G		not specified	Uncertain significance (May 24, 2024)
4-68236051-T-C		not specified	Uncertain significance (Apr 13, 2022)
4-68236153-T-C		not specified	Uncertain significance (Nov 28, 2023)
4-68236173-A-G		not specified	Uncertain significance (Mar 18, 2024)
4-68236188-T-A		not specified	Uncertain significance (Jun 03, 2022)
4-68236197-G-A		not specified	Uncertain significance (Jul 09, 2021)
4-68236221-G-T		not specified	Uncertain significance (Jan 26, 2023)
4-68236247-T-A		not specified	Uncertain significance (May 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMPRSS11B	protein_coding	protein_coding	ENST00000332644	10	19068

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.29e-19	0.000389	125132	11	593	125736	0.00240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.357	231	216	1.07	0.0000103	2749
Missense in Polyphen		71	55.074	1.2892		764
Synonymous	2.03	49	70.8	0.692	0.00000330	763
Loss of Function	-1.11	25	19.7	1.27	8.29e-7	259

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00255	0.00247
Ashkenazi Jewish	0.00	0.00
East Asian	0.0301	0.0288
Finnish	0.0000946	0.0000924
European (Non-Finnish)	0.0000903	0.0000879
Middle Eastern	0.0301	0.0288
South Asian	0.000511	0.000490
Other	0.00139	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease. {ECO:0000269|PubMed:24498351}.

Recessive Scores

• pRec: 0.0966

Intolerance Scores

• loftool: 0.404
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.49

Haploinsufficiency Scores

• pHI: 0.0865
• hipred: N
• hipred_score: 0.146
• ghis: 0.390

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0122

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmprss11b

Gene ontology

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