TMPRSS11D

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

Basic information

Region (hg38): 4:67820876-67884002

Links

ENSG00000153802 ∙ NCBI:9407 ∙ OMIM:605369 ∙ HGNC:24059 ∙ Uniprot:O60235 ∙ 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 TMPRSS11D gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPRSS11D 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			25	3		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	25	3	0

Variants in TMPRSS11D

This is a list of pathogenic ClinVar variants found in the TMPRSS11D region.

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

Position	Type	Phenotype	Significance	ClinVar
4-67822378-T-C		not specified	Uncertain significance (Nov 14, 2024)
4-67822462-G-A		not specified	Uncertain significance (Feb 28, 2025)
4-67825740-C-T		not specified	Uncertain significance (May 15, 2024)
4-67825746-C-T		not specified	Uncertain significance (Oct 17, 2024)
4-67825806-G-A		not specified	Likely benign (Nov 07, 2023)
4-67825827-T-G		not specified	Uncertain significance (Feb 15, 2023)
4-67825874-C-G		not specified	Uncertain significance (May 16, 2024)
4-67827276-C-T		not specified	Uncertain significance (Dec 21, 2022)
4-67827297-C-G		not specified	Uncertain significance (Jan 31, 2024)
4-67827422-T-C		not specified	Uncertain significance (Aug 15, 2024)
4-67827429-T-C		not specified	Uncertain significance (Apr 23, 2024)
4-67827434-A-G		not specified	Uncertain significance (Sep 26, 2023)
4-67827491-G-T		not specified	Uncertain significance (Dec 31, 2024)
4-67827506-C-G		not specified	Uncertain significance (Mar 31, 2023)
4-67833283-G-A		not specified	Uncertain significance (Oct 12, 2024)
4-67833311-C-A		not specified	Uncertain significance (Aug 14, 2024)
4-67833324-G-C		not specified	Uncertain significance (Dec 30, 2023)
4-67833349-A-T		not specified	Uncertain significance (Jul 12, 2022)
4-67838241-C-T		not specified	Uncertain significance (Nov 12, 2021)
4-67838309-C-G		not specified	Uncertain significance (Feb 04, 2025)
4-67838318-C-T		not specified	Likely benign (Oct 29, 2021)
4-67842606-T-G		not specified	Uncertain significance (Dec 17, 2023)
4-67842607-C-T		not specified	Uncertain significance (Jan 03, 2024)
4-67854090-A-G		not specified	Uncertain significance (Nov 25, 2024)
4-67854137-T-G		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMPRSS11D	protein_coding	protein_coding	ENST00000283916	10	63157

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000120	0.954	125688	0	56	125744	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.484	198	218	0.908	0.0000109	2714
Missense in Polyphen		68	82.733	0.82192		1042
Synonymous	-0.563	84	77.7	1.08	0.00000395	823
Loss of Function	1.84	11	19.9	0.553	9.35e-7	251

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.0000556	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000417	0.000413
Middle Eastern	0.0000556	0.0000544
South Asian	0.0000795	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. Plays a role in the proteolytic processing of ACE2. Proteolytically cleaves and activates the human coronavirus 229E (HCoV-229E) spike glycoprotein which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Preferentially cleaves the C-terminal side of arginine residues at the P1 position of certain peptides, cleaving Boc-Phe-Ser-Arg-4-methylcoumaryl-7-amide most efficiently and having an optimum pH of 8.6 with this substrate. {ECO:0000269|PubMed:23536651, ECO:0000269|PubMed:24227843}.

Recessive Scores

• pRec: 0.519

Intolerance Scores

• loftool: 0.304
• rvis_EVS: -0.74
• rvis_percentile_EVS: 13.94

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.233
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.108

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmprss11d
• Phenotype: neoplasm

Gene ontology

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