TMPRSS11A

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

Basic information

Region (hg38): 4:67909395-67964140

Links

ENSG00000187054 ∙ NCBI:339967 ∙ OMIM:611704 ∙ HGNC:27954 ∙ Uniprot:Q6ZMR5 ∙ 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 TMPRSS11A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMPRSS11A 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			27	1		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	27	1	0

Variants in TMPRSS11A

This is a list of pathogenic ClinVar variants found in the TMPRSS11A region.

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

Position	Type	Phenotype	Significance	ClinVar
4-67911346-A-G		not specified	Uncertain significance (Jun 12, 2023)
4-67911349-C-T		not specified	Uncertain significance (Apr 26, 2024)
4-67911373-C-T		not specified	Uncertain significance (Apr 25, 2023)
4-67911460-G-A		not specified	Uncertain significance (Nov 09, 2021)
4-67911484-A-G		not specified	Uncertain significance (Dec 07, 2021)
4-67914593-A-G		not specified	Uncertain significance (Feb 06, 2024)
4-67914634-C-T		not specified	Uncertain significance (Mar 12, 2024)
4-67914644-T-C		not specified	Uncertain significance (May 31, 2022)
4-67914691-A-G		not specified	Uncertain significance (May 25, 2022)
4-67918987-G-A		not specified	Uncertain significance (Jul 20, 2021)
4-67919023-T-G		not specified	Uncertain significance (Jun 03, 2022)
4-67919032-G-A		not specified	Uncertain significance (Jun 05, 2024)
4-67919071-G-A		not specified	Uncertain significance (Apr 01, 2024)
4-67919082-T-G		not specified	Uncertain significance (Jul 15, 2021)
4-67919106-A-C		not specified	Uncertain significance (Nov 06, 2023)
4-67919131-C-A		not specified	Uncertain significance (Sep 01, 2021)
4-67919141-C-T		not specified	Uncertain significance (Nov 17, 2023)
4-67919168-T-C		not specified	Uncertain significance (Jul 12, 2023)
4-67919185-T-C		not specified	Uncertain significance (Sep 09, 2021)
4-67919195-T-C		not specified	Uncertain significance (Nov 29, 2021)
4-67924143-A-T		not specified	Uncertain significance (Oct 27, 2022)
4-67929910-G-T		not specified	Uncertain significance (Mar 07, 2023)
4-67929915-G-A		not specified	Uncertain significance (Sep 22, 2023)
4-67929934-T-G		not specified	Uncertain significance (Jun 05, 2023)
4-67932026-T-C		not specified	Uncertain significance (Jun 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMPRSS11A	protein_coding	protein_coding	ENST00000334830	10	54756

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.83e-15	0.0276	125616	0	131	125747	0.000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.498	206	227	0.907	0.0000113	2745
Missense in Polyphen		63	77.951	0.80819		943
Synonymous	0.0835	79	80.0	0.988	0.00000422	780
Loss of Function	0.406	24	26.2	0.914	0.00000158	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00276	0.00276
Ashkenazi Jewish	0.00	0.00
East Asian	0.00131	0.00131
Finnish	0.0000930	0.0000924
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.00131	0.00131
South Asian	0.000687	0.000686
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable serine protease which may play a role in cellular senescence. Overexpression inhibits cell growth and induce G1 cell cycle arrest.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.196
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.58

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.145

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: Tmprss11a
• Phenotype: endocrine/exocrine gland phenotype; reproductive system phenotype; normal phenotype

Gene ontology

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