TPSB2

tryptase beta 2

Basic information

Region (hg38): 16:1227272-1232757

Links

ENSG00000197253 ∙ NCBI:64499 ∙ OMIM:191081 ∙ HGNC:14120 ∙ Uniprot:P20231 ∙ 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 TPSB2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPSB2 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				1		1
missense			15	4	2	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	15	5	2

Variants in TPSB2

This is a list of pathogenic ClinVar variants found in the TPSB2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-1228760-C-T		not specified	Uncertain significance (Jun 10, 2024)
16-1228762-G-A			Likely benign (Nov 01, 2022)
16-1228812-G-A			Likely benign (Sep 01, 2022)
16-1229293-C-T		not specified	Likely benign (Oct 22, 2021)
16-1229314-C-G		not specified	Likely benign (Jul 27, 2021)
16-1229323-C-T		not specified	Uncertain significance (Nov 21, 2022)
16-1229331-G-A		not specified	Uncertain significance (Nov 19, 2021)
16-1229365-C-T		not specified	Uncertain significance (Sep 20, 2023)
16-1229429-C-G		not specified	Uncertain significance (Aug 06, 2021)
16-1229435-G-A			Likely benign (Dec 01, 2022)
16-1229443-G-C		not specified	Uncertain significance (Jun 24, 2022)
16-1229448-T-C		not specified	Uncertain significance (Mar 02, 2023)
16-1229573-C-G		not specified	Benign (Mar 29, 2016)
16-1229621-C-A		not specified	Uncertain significance (Jun 29, 2022)
16-1229627-A-T		not specified	Uncertain significance (May 16, 2023)
16-1229648-G-A		not specified	Uncertain significance (May 11, 2022)
16-1229669-A-G		not specified	Uncertain significance (Jun 05, 2023)
16-1229731-C-A		not specified	Benign (Mar 29, 2016)
16-1229735-G-T		not specified	Uncertain significance (Nov 12, 2021)
16-1229909-G-A		not specified	Uncertain significance (Oct 17, 2023)
16-1229911-C-T		not specified	Uncertain significance (Jan 26, 2023)
16-1229914-G-A		not specified	Likely benign (Oct 05, 2021)
16-1229921-C-T		not specified	Uncertain significance (Dec 13, 2023)
16-1229929-G-T		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TPSB2	polymorphic_pseudogene	protein_coding	ENST00000430512	6	2943

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.33e-9	0.0351	124594	0	16	124610	0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.04	149	93.5	1.59	0.00000617	1647
Missense in Polyphen		50	33.741	1.4819		659
Synonymous	-3.10	68	42.4	1.60	0.00000302	508
Loss of Function	-0.955	11	8.07	1.36	5.93e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000582	0.0000552
Finnish	0.00	0.00
European (Non-Finnish)	0.0000639	0.0000621
Middle Eastern	0.0000582	0.0000552
South Asian	0.000144	0.000132
Other	0.00	0.00

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. {ECO:0000250, ECO:0000250|UniProtKB:P21845}.

Recessive Scores

• pRec: 0.483

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Mouse Genome Informatics

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

Gene ontology

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