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.

• not_specified (58 variants)

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. These statistics are base on transcript: NM_001114387.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			55	2		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	56	2	0

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