TPSAB1

tryptase alpha/beta 1

Basic information

Region (hg38): 16:1239266-1242554

Previous symbols: [ "TPSB1", "TPS1", "TPS2" ]

Links

ENSG00000172236 ∙ NCBI:7177 ∙ OMIM:191080 ∙ HGNC:12019 ∙ Uniprot:Q15661 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Allergy/Immunology/Infectious; Gastrointestinal; Musculoskeletal; Neurologic	27749843
Reported pathogenic variants have involved gene duplications or triplications

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TPSAB1 gene.

• not_specified (52 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPSAB1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003294.4. 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				3	1	4
missense			48	5		53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	8	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TPSAB1	protein_coding	protein_coding	ENST00000338844	5	1859

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.27e-13	0.00179	125578	0	79	125657	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.13	247	142	1.74	0.00000920	1694
Missense in Polyphen		85	50.925	1.6691		701
Synonymous	-4.38	110	65.1	1.69	0.00000483	531
Loss of Function	-1.90	16	9.63	1.66	5.56e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000949	0.000944
Ashkenazi Jewish	0.00	0.00
East Asian	0.000387	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000172	0.000141
Middle Eastern	0.000387	0.000381
South Asian	0.000856	0.000850
Other	0.000357	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates (PubMed:18854315). {ECO:0000250, ECO:0000250|UniProtKB:P21845, ECO:0000269|PubMed:18854315}.
• Pathway: Extracellular matrix organization;Activation of Matrix Metalloproteinases;Degradation of the extracellular matrix (Consensus)

Recessive Scores

• pRec: 0.483

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187
• ghis: 0.430

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.233

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tpsb2
• Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype; skeleton phenotype

Gene ontology

• Biological process: proteolysis;defense response;extracellular matrix disassembly
• Cellular component: extracellular region;extracellular space;collagen-containing extracellular matrix
• Molecular function: serine-type endopeptidase activity;protein binding;serine-type peptidase activity