TPSB2 (tryptase beta 2)

2014-11-01  

Identity

HGNC
TPSB2
LOCATION
16p13.3
LOCUSID
64499
ALIAS
TPS2,tryptaseB,tryptaseC

Other Information

Locus ID:

NCBI: 64499
MIM: 191081
HGNC: 14120
Ensembl: ENSG00000197253

Variants:

dbSNP: 64499
ClinVar: 64499
TCGA: ENSG00000197253
COSMIC: TPSB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197253ENST00000606293P20231
ENSG00000197253ENST00000606293A0A140VJT7
ENSG00000197253ENST00000611196A0A087X1U0
ENSG00000197253ENST00000612142A0A087WUI4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
197486552009Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.14
197486552009Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.14
241426942013Allosteric control of βII-tryptase by a redox active disulfide bond.11
155674162005Structural requirements and mechanism for heparin-dependent activation and tetramerization of human betaI- and betaII-tryptase.9
174493302007Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels.9
313377362019Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.4

Citation

Dessen P

TPSB2 (tryptase beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75086/tpsb2