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Gene: TPSB2 (tryptase beta 2) Homo sapiens

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Symbol:

TPSB2

Name:

tryptase beta 2

RGD ID:

1348891

HGNC Page

HGNC:14120

Description:

Predicted to enable heparin binding activity and serine-type endopeptidase activity. Predicted to be involved in proteolysis. Located in extracellular matrix.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

mast cell tryptase beta II; mast cell tryptase beta III; testicular tissue protein Li 163; TPS2; tryptase beta 2 (gene/pseudogene); tryptase beta II; tryptase beta III; tryptase beta-2; tryptase II; tryptase III; tryptase-2; tryptaseB; tryptaseC

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tpsb2 (tryptase beta 2)	RGD	RGD
Rattus norvegicus (Norway rat):	Tpsb2 (tryptase beta 2)	RGD	RGD
Pan paniscus (bonobo/pygmy chimpanzee):	LOC100978423 (tryptase beta-2)	NCBI	Ortholog
Sus scrofa (pig):	MCT7 (tryptase)	HGNC	Ensembl, Inparanoid, OMA, OrthoDB, Panther
Other homologs ²
Mus musculus (house mouse):	Tpsab1 (tryptase alpha/beta 1)	HGNC	Ensembl, HGNC, OMA
Rattus norvegicus (Norway rat):	Tpsab1 (tryptase alpha/beta 1)	HGNC	Ensembl, OrthoDB
Sus scrofa (pig):	LOC110256121 (serine protease 33-like)	HGNC	Ensembl
Sus scrofa (pig):	LOC110255206 (tryptase-like)	HGNC	EggNOG
Rattus norvegicus (Norway rat):	Gabra5 (gamma-aminobutyric acid type A receptor subunit alpha 5)	HGNC	OMA
Rattus norvegicus (Norway rat):	Adamtsl3 (ADAMTS-like 3)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tpsb2 (tryptase beta 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Tpsb2 (tryptase beta 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Tpsb2 (tryptase beta 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tpsb2 (tryptase beta 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Tpsab1 (tryptase alpha/beta 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|OMA\|OrthoFinder)
Danio rerio (zebrafish):	si:dkey-16l2.17	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	CG11836	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Caenorhabditis elegans (roundworm):	try-1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG3355	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Drosophila melanogaster (fruit fly):	CG4613	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Drosophila melanogaster (fruit fly):	CG4914	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Drosophila melanogaster (fruit fly):	CG8172	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Drosophila melanogaster (fruit fly):	CG9294	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Drosophila melanogaster (fruit fly):	CG9372	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Drosophila melanogaster (fruit fly):	CG18563	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Drosophila melanogaster (fruit fly):	CG1299	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Xenopus tropicalis (tropical clawed frog):	tpsab1	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Drosophila melanogaster (fruit fly):	l(2)k05911	Alliance	DIOPT (Ensembl Compara\|OrthoFinder)
Drosophila melanogaster (fruit fly):	CG4793	Alliance	DIOPT (Ensembl Compara\|PANTHER)

Related Pseudogenes:

TPSP2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	1,228,336 - 1,230,184 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	1,227,272 - 1,233,725 (-)	Ensembl			hg38	GRCh38
GRCh37	16	1,278,336 - 1,280,185 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	1,218,337 - 1,220,186 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	16	1,230,940 - 1,232,555	NCBI
Celera	16	1,494,229 - 1,494,587 (-)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	1,211,394 - 1,224,892 (-)	NCBI		HuRef
CHM1_1	16	1,278,009 - 1,279,872 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	1,243,646 - 1,245,495 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Keloid (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,4-phenylenediamine (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4-D (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

aldehydo-D-glucose (ISO)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

Azoxymethane (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chrysene (ISO)

clofibrate (ISO)

compound 48/80 (EXP)

copper atom (ISO)

copper(0) (ISO)

Cuprizon (ISO)

D-glucose (ISO)

dextran sulfate (ISO)

diclofenac (ISO)

fructose (ISO)

furan (ISO)

genistein (ISO)

glucose (ISO)

isotretinoin (EXP)

ketoconazole (ISO)

lead diacetate (ISO)

methotrexate (EXP)

N,O-dimethyltyramine (EXP)

nickel dichloride (ISO)

paraquat (ISO)

pirinixic acid (ISO)

progesterone (ISO)

sodium arsenite (ISO)

tetraphene (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

trimellitic anhydride (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

proteolysis (IBA,IEA)

Cellular Component

extracellular matrix (HDA)

extracellular region (IEA)

extracellular space (IBA)

Molecular Function

heparin binding (ISO)

hydrolase activity (IEA)

peptidase activity (IEA)

protein binding (IPI)

serine-type endopeptidase activity (IBA,IEA,NAS)

serine-type peptidase activity (IEA,TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2187193	PMID:2203827	PMID:8434231	PMID:9521329	PMID:9920877	PMID:10391906	PMID:10500112	PMID:10708850	PMID:10843716	PMID:10898108	PMID:11157797	PMID:12217407
PMID:12477932	PMID:14670919	PMID:15489334	PMID:15567416	PMID:17449330	PMID:17474147	PMID:19748655	PMID:20210993	PMID:21873635	PMID:22046132	PMID:24142694	PMID:27559042
PMID:28514442	PMID:31337736	PMID:33961781	PMID:37511292

Genomics

Comparative Map Data

TPSB2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	1,228,336 - 1,230,184 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	1,227,272 - 1,233,725 (-)	Ensembl			hg38	GRCh38
GRCh37	16	1,278,336 - 1,280,185 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	1,218,337 - 1,220,186 (-)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	16	1,230,940 - 1,232,555	NCBI
Celera	16	1,494,229 - 1,494,587 (-)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	1,211,394 - 1,224,892 (-)	NCBI		HuRef
CHM1_1	16	1,278,009 - 1,279,872 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	1,243,646 - 1,245,495 (-)	NCBI		T2T-CHM13v2.0

Tpsb2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	25,585,282 - 25,587,070 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	25,585,170 - 25,588,079 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	17	25,366,308 - 25,368,096 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	25,366,305 - 25,369,098 (+)	Ensembl			mm10	GRCm38
MGSCv37	17	25,503,278 - 25,505,037 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	17	25,093,933 - 25,095,692 (+)	NCBI		MGSCv36	mm8
Celera	17	25,894,349 - 25,896,108 (+)	NCBI		Celera
Cytogenetic Map	17	A3.3	NCBI
cM Map	17	12.53	NCBI

Tpsb2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	14,886,310 - 14,888,102 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	10	14,886,360 - 14,888,100 (+)	Ensembl				GRCr8
mRatBN7.2	10	14,381,779 - 14,383,571 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	14,382,013 - 14,383,569 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	10	19,122,492 - 19,124,284 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	18,611,363 - 18,613,155 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	14,110,546 - 14,112,338 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	14,722,672 - 14,724,464 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	14,722,756 - 14,724,600 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	10	14,539,018 - 14,540,810 (+)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	10	14,613,118 - 14,614,917 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	10	14,053,492 - 14,055,284 (+)	NCBI		Celera
RGSC_v3.1	10	14,613,117 - 14,614,917 (+)	NCBI
Cytogenetic Map	10	q12	NCBI

LOC100978423
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	18	1,484,128 - 1,485,978 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	5,264,473 - 5,266,322 (-)	NCBI		NHGRI_mPanPan1
PanPan1.1	16	1,234,218 - 1,236,068 (-)	NCBI	PanPan1.1	PanPan1.1	panPan2

MCT7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	3	40,616,642 - 40,619,148 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

Variants

Variants in TPSB2
36 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	copy number gain	See cases [RCV000052367]	Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13	pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	copy number gain	See cases [RCV000052368]	Chr16:29941..2560460 [GRCh38] Chr16:79941..2610461 [GRCh37] Chr16:19941..2550462 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3	copy number gain	See cases [RCV000052369]	Chr16:46566..1800860 [GRCh38] Chr16:96566..1850861 [GRCh37] Chr16:36566..1790862 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	copy number gain	See cases [RCV000052370]	Chr16:46766..3214623 [GRCh38] Chr16:96766..3264623 [GRCh37] Chr16:36766..3204624 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	copy number gain	See cases [RCV000052373]	Chr16:1221651..2233773 [GRCh38] Chr16:1271651..2283774 [GRCh37] Chr16:1211652..2223775 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	copy number loss	See cases [RCV000053251]	Chr16:23141..1773349 [GRCh38] Chr16:73141..1823350 [GRCh37] Chr16:13141..1763351 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	copy number loss	See cases [RCV000053252]	Chr16:23141..1712523 [GRCh38] Chr16:73141..1762524 [GRCh37] Chr16:13141..1702525 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	copy number loss	See cases [RCV000053253]	Chr16:46766..1997582 [GRCh38] Chr16:96766..2047583 [GRCh37] Chr16:36766..1987584 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	copy number loss	See cases [RCV000053267]	Chr16:105429..1499893 [GRCh38] Chr16:155427..1549894 [GRCh37] Chr16:95427..1489895 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	copy number gain	See cases [RCV000133780]	Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	copy number loss	See cases [RCV000134917]	Chr16:46766..1544014 [GRCh38] Chr16:96766..1594015 [GRCh37] Chr16:36766..1534016 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	copy number gain	See cases [RCV000136687]	Chr16:46766..4247185 [GRCh38] Chr16:96766..4297186 [GRCh37] Chr16:36766..4237187 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	copy number loss	See cases [RCV000137826]	Chr16:46722..1867327 [GRCh38] Chr16:96722..1917328 [GRCh37] Chr16:36722..1857329 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	copy number gain	See cases [RCV000139166]	Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12	pathogenic
GRCh38/hg38 16p13.3(chr16:925267-1324901)x3	copy number gain	See cases [RCV000142458]	Chr16:925267..1324901 [GRCh38] Chr16:975267..1374902 [GRCh37] Chr16:915268..1314903 [NCBI36] Chr16:16p13.3	likely pathogenic\|uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	copy number gain	See cases [RCV000143710]	Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	copy number gain	See cases [RCV000203445]	Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207326]	Chr16:1274615..19073133 [GRCh37] Chr16:16p13.3-12.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	copy number loss	See cases [RCV000239415]	Chr16:88165..1715454 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	copy number loss	See cases [RCV000240294]	Chr16:72769..1511716 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1278591-1306880)x3	copy number gain	See cases [RCV000447023]	Chr16:1278591..1306880 [GRCh37] Chr16:16p13.3	benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	copy number gain	See cases [RCV000446555]	Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2	pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	copy number gain	See cases [RCV000445663]	Chr16:97133..5122974 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1278591-1306279)x3	copy number gain	See cases [RCV000447716]	Chr16:1278591..1306279 [GRCh37] Chr16:16p13.3	benign
NC_000016.9:g.(?_1239945)_(1300070_?)del	deletion	Schizophrenia [RCV000416764]	Chr16:1239945..1300070 [GRCh37] Chr16:1179946..1240071 [NCBI36] Chr16:16p13.3	likely pathogenic
GRCh37/hg19 16p13.3(chr16:1279620-1306279)x3	copy number gain	See cases [RCV000448751]	Chr16:1279620..1306279 [GRCh37] Chr16:16p13.3	benign\|likely benign
NM_024164.6(TPSB2):c.68G>T (p.Gly23Val)	single nucleotide variant	not provided [RCV004715233]\|not specified [RCV000454387]	Chr16:1229731 [GRCh38] Chr16:1279732 [GRCh37] Chr16:16p13.3	benign
NM_024164.6(TPSB2):c.226G>C (p.Val76Leu)	single nucleotide variant	not provided [RCV004715232]\|not specified [RCV000455495]	Chr16:1229573 [GRCh38] Chr16:1279574 [GRCh37] Chr16:16p13.3	benign
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	copy number gain	See cases [RCV000510815]	Chr16:643377..3125125 [GRCh37] Chr16:16p13.3	uncertain significance
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	copy number gain	See cases [RCV000511360]	Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2	pathogenic
NM_024164.6(TPSB2):c.130T>C (p.Trp44Arg)	single nucleotide variant	not specified [RCV004327205]	Chr16:1229669 [GRCh38] Chr16:1279670 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	copy number gain	See cases [RCV000510698]	Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2	pathogenic
NM_024164.6(TPSB2):c.172T>A (p.Phe58Ile)	single nucleotide variant	not specified [RCV004317193]	Chr16:1229627 [GRCh38] Chr16:1279628 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	copy number gain	See cases [RCV000512194]	Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	copy number loss	not provided [RCV000683741]	Chr16:85880..1875694 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	copy number gain	not provided [RCV000683742]	Chr16:85880..3216551 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	copy number loss	not provided [RCV000683740]	Chr16:85880..1498731 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	copy number gain	not provided [RCV000683743]	Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1261282-1288881)x3	copy number gain	not provided [RCV000751500]	Chr16:1261282..1288881 [GRCh37] Chr16:16p13.3	benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1	copy number loss	not provided [RCV000751445]	Chr16:61451..1593645 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2550979_?)dup	duplication	Idiopathic generalized epilepsy [RCV001033790]	Chr16:624055..2550979 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797)	copy number gain	Chromosome 16p13.3 duplication syndrome [RCV000767731]	Chr16:109978..4316797 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2115656_?)del	deletion	Tuberous sclerosis 2 [RCV000811345]	Chr16:624055..2115656 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1134638-1295079)x4	copy number gain	not provided [RCV000848315]	Chr16:1134638..1295079 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	copy number loss	not provided [RCV000849039]	Chr16:85880..2053328 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	copy number loss	not provided [RCV000848130]	Chr16:85880..1468459 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2148005_?)del	deletion	Tuberous sclerosis 2 [RCV001033183]	Chr16:624055..2148005 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_1203718)_(2185710_?)del	deletion	Tuberous sclerosis 2 [RCV001033886]	Chr16:1203718..2185710 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	copy number gain	not provided [RCV001537890]	Chr16:84485..5251013 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	copy number gain	not provided [RCV001259749]	Chr16:85880..5249457 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3	copy number gain	not provided [RCV001259760]	Chr16:1233996..1509217 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup	duplication	Epilepsy [RCV001344085]\|Idiopathic generalized epilepsy [RCV001316565]	Chr16:624055..2153916 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1468828)	copy number loss	not specified [RCV002052500]	Chr16:85880..1468828 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup	duplication	Familial Mediterranean fever [RCV001877532]\|Fanconi anemia [RCV001877533]\|not provided [RCV001877531]	Chr16:256302..5971108 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup	duplication	Epilepsy [RCV003113403]\|Idiopathic generalized epilepsy [RCV003109446]\|Saldino-Mainzer syndrome [RCV003113404]	Chr16:256302..4852572 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del	deletion	Idiopathic generalized epilepsy [RCV003109815]	Chr16:256302..1843653 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del	deletion	Saldino-Mainzer syndrome [RCV003116765]\|not provided [RCV003116766]	Chr16:256302..1657267 [GRCh37] Chr16:16p13.3	pathogenic\|no classifications from unflagged records
NC_000016.9:g.(?_256302)_(1918176_?)del	deletion	not provided [RCV003119703]	Chr16:256302..1918176 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	copy number gain	See cases [RCV002292215]	Chr16:111043..6627459 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	copy number gain	not provided [RCV002473769]	Chr16:1129080..2021055 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	copy number loss	not provided [RCV002474576]	Chr16:85881..1350186 [GRCh37] Chr16:16p13.3	pathogenic
NM_024164.6(TPSB2):c.376G>C (p.Glu126Gln)	single nucleotide variant	not specified [RCV004188775]	Chr16:1229314 [GRCh38] Chr16:1279315 [GRCh37] Chr16:16p13.3	likely benign
NM_024164.6(TPSB2):c.397G>A (p.Val133Ile)	single nucleotide variant	not specified [RCV004246523]	Chr16:1229293 [GRCh38] Chr16:1279294 [GRCh37] Chr16:16p13.3	likely benign
NM_024164.6(TPSB2):c.151C>T (p.Arg51Cys)	single nucleotide variant	not specified [RCV004145600]	Chr16:1229648 [GRCh38] Chr16:1279649 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.64C>A (p.Pro22Thr)	single nucleotide variant	not specified [RCV004198527]	Chr16:1229735 [GRCh38] Chr16:1279736 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.367G>A (p.Ala123Thr)	single nucleotide variant	not specified [RCV004198733]	Chr16:1229323 [GRCh38] Chr16:1279324 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.23C>A (p.Ala8Glu)	single nucleotide variant	not specified [RCV004168932]	Chr16:1229929 [GRCh38] Chr16:1279930 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.261G>C (p.Arg87Ser)	single nucleotide variant	not provided [RCV004809934]\|not specified [RCV004173940]	Chr16:1229429 [GRCh38] Chr16:1279430 [GRCh37] Chr16:16p13.3	likely benign\|uncertain significance
NM_024164.6(TPSB2):c.247C>G (p.Leu83Val)	single nucleotide variant	not specified [RCV004147301]	Chr16:1229443 [GRCh38] Chr16:1279444 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.38C>T (p.Ala13Val)	single nucleotide variant	not specified [RCV004141040]	Chr16:1229914 [GRCh38] Chr16:1279915 [GRCh37] Chr16:16p13.3	likely benign
NM_024164.6(TPSB2):c.178G>T (p.Gly60Trp)	single nucleotide variant	not specified [RCV004090864]	Chr16:1229621 [GRCh38] Chr16:1279622 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	copy number loss	not provided [RCV003222891]	Chr16:811896..2130379 [GRCh37] Chr16:16p13.3	pathogenic
NM_024164.6(TPSB2):c.41G>A (p.Ser14Asn)	single nucleotide variant	not specified [RCV004263369]	Chr16:1229911 [GRCh38] Chr16:1279912 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.242A>G (p.Lys81Arg)	single nucleotide variant	not specified [RCV004284910]	Chr16:1229448 [GRCh38] Chr16:1279449 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.666C>T (p.Gly222=)	single nucleotide variant	not provided [RCV003395164]	Chr16:1228812 [GRCh38] Chr16:1278812 [GRCh37] Chr16:16p13.3	likely benign
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	copy number loss	not provided [RCV003483253]	Chr16:85881..1657611 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:898328-1349091)x3	copy number gain	not provided [RCV003485079]	Chr16:898328..1349091 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	copy number gain	not provided [RCV003485080]	Chr16:1054247..2592737 [GRCh37] Chr16:16p13.3	likely pathogenic
NM_024164.6(TPSB2):c.716C>T (p.Ala239Val)	single nucleotide variant	not provided [RCV003390601]	Chr16:1228762 [GRCh38] Chr16:1278762 [GRCh37] Chr16:16p13.3	likely benign
NM_024164.6(TPSB2):c.255C>T (p.Ala85=)	single nucleotide variant	not provided [RCV003395165]	Chr16:1229435 [GRCh38] Chr16:1279436 [GRCh37] Chr16:16p13.3	likely benign
GRCh37/hg19 16p13.3(chr16:1252411-1297707)x1	copy number loss	not specified [RCV003987194]	Chr16:1252411..1297707 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.325G>A (p.Val109Met)	single nucleotide variant	not specified [RCV004471006]	Chr16:1229365 [GRCh38] Chr16:1279366 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.359C>T (p.Ala120Val)	single nucleotide variant	not specified [RCV004471007]	Chr16:1229331 [GRCh38] Chr16:1279332 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.31G>A (p.Val11Ile)	single nucleotide variant	not specified [RCV004471005]	Chr16:1229921 [GRCh38] Chr16:1279922 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.43C>T (p.Arg15Cys)	single nucleotide variant	not specified [RCV004471008]	Chr16:1229909 [GRCh38] Chr16:1279910 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(1557737_?)del	deletion	not provided [RCV004582850]	Chr16:256302..1557737 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_339420)_(3767509_?)dup	duplication	Epilepsy [RCV004581460]\|Idiopathic generalized epilepsy [RCV004581461]	Chr16:339420..3767509 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.718G>A (p.Gly240Ser)	single nucleotide variant	not specified [RCV004677355]	Chr16:1228760 [GRCh38] Chr16:1278760 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85881-12268399)x3	copy number gain	not provided [RCV004819312]	Chr16:85881..12268399 [GRCh37] Chr16:16p13.3-13.13	pathogenic
GRCh37/hg19 16p13.3(chr16:513767-5555136)x3	copy number gain	not provided [RCV004819313]	Chr16:513767..5555136 [GRCh37] Chr16:16p13.3	pathogenic
NM_024164.6(TPSB2):c.225C>G (p.Cys75Trp)	single nucleotide variant	not specified [RCV004878263]	Chr16:1229574 [GRCh38] Chr16:1279575 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.62C>T (p.Ala21Val)	single nucleotide variant	not specified [RCV004878264]	Chr16:1229737 [GRCh38] Chr16:1279738 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.308C>G (p.Pro103Arg)	single nucleotide variant	not specified [RCV004878265]	Chr16:1229382 [GRCh38] Chr16:1279383 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.350A>T (p.Gln117Leu)	single nucleotide variant	not specified [RCV004878266]	Chr16:1229340 [GRCh38] Chr16:1279341 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.230G>A (p.Gly77Glu)	single nucleotide variant	not specified [RCV004878267]	Chr16:1229569 [GRCh38] Chr16:1279570 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.293A>G (p.Gln98Arg)	single nucleotide variant	not specified [RCV004878268]	Chr16:1229397 [GRCh38] Chr16:1279398 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.445T>C (p.Phe149Leu)	single nucleotide variant	not specified [RCV005290141]	Chr16:1229245 [GRCh38] Chr16:1279246 [GRCh37] Chr16:16p13.3	uncertain significance
NM_024164.6(TPSB2):c.72G>A (p.Gln24=)	single nucleotide variant	not provided [RCV005426859]	Chr16:1229727 [GRCh38] Chr16:1279728 [GRCh37] Chr16:16p13.3	likely benign

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1401
Count of miRNA genes:	691
Interacting mature miRNAs:	801
Transcripts:	ENST00000339687, ENST00000430512, ENST00000445910, ENST00000606293
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597300859	GWAS1396933_H	tryptase beta-2 measurement QTL GWAS1396933 (human)		6e-250	tryptase beta-2 measurement		16	1229267	1229268	Human
597300862	GWAS1396936_H	tryptase beta-2 measurement QTL GWAS1396936 (human)		2e-313	tryptase beta-2 measurement		16	1229815	1229816	Human
597485017	GWAS1581091_H	urticaria QTL GWAS1581091 (human)		1e-08	urticaria		16	1230086	1230087	Human
597346172	GWAS1442246_H	basophil measurement QTL GWAS1442246 (human)		3e-10	basophil measurement		16	1228615	1228616	Human
406892808	GWAS541784_H	tryptase beta-2 measurement QTL GWAS541784 (human)		6e-250	tryptase beta-2 measurement		16	1229267	1229268	Human
628808178	GWAS2716407_H	protein measurement QTL GWAS2716407 (human)		1e-09	protein amount (VT:0010120)		16	1229815	1229816	Human
406892810	GWAS541786_H	tryptase beta-2 measurement QTL GWAS541786 (human)		2e-313	tryptase beta-2 measurement		16	1229815	1229816	Human
628605533	GWAS2513762_H	urticaria QTL GWAS2513762 (human)		1e-08	urticaria		16	1230086	1230087	Human
407279434	GWAS928410_H	urticaria QTL GWAS928410 (human)		1e-08	urticaria		16	1230086	1230087	Human
597176854	GWAS1272928_H	protein measurement QTL GWAS1272928 (human)		1e-09	protein measurement		16	1229815	1229816	Human
406955150	GWAS604126_H	tryptase beta-2 measurement QTL GWAS604126 (human)		4e-2075	tryptase beta-2 measurement		16	1230086	1230087	Human
628579175	GWAS2487404_H	tryptase beta-2 measurement QTL GWAS2487404 (human)		6e-250	tryptase beta-2 measurement		16	1229267	1229268	Human
628659948	GWAS2568177_H	basophil measurement QTL GWAS2568177 (human)		3e-10	basophil morphology trait (VT:0002422)		16	1228615	1228616	Human
628806764	GWAS2714993_H	tryptase beta-2 measurement QTL GWAS2714993 (human)		4e-2075	tryptase beta-2 measurement		16	1230086	1230087	Human
407167007	GWAS815983_H	basophil measurement QTL GWAS815983 (human)		3e-10	basophil measurement		16	1228615	1228616	Human
406959258	GWAS608234_H	protein measurement QTL GWAS608234 (human)		1e-09	protein measurement		16	1229815	1229816	Human
597497089	GWAS1593163_H	tryptase beta-2 measurement QTL GWAS1593163 (human)		4e-2075	tryptase beta-2 measurement		16	1230086	1230087	Human
628579178	GWAS2487407_H	tryptase beta-2 measurement QTL GWAS2487407 (human)		2e-313	tryptase beta-2 measurement		16	1229815	1229816	Human

Markers in Region

RH80805

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,292,287 - 1,292,534	UniSTS	GRCh37
Build 36	16	1,232,288 - 1,232,535	RGD	NCBI36
Celera	16	1,494,250 - 1,494,497	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,211,415 - 1,211,662	UniSTS
HuRef	16	1,223,075 - 1,223,322	UniSTS
GeneMap99-GB4 RH Map	16	45.24	UniSTS

RH78261

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,292,377 - 1,292,521	UniSTS	GRCh37
GRCh37	16	1,278,370 - 1,278,514	UniSTS	GRCh37
Build 36	16	1,218,371 - 1,218,515	RGD	NCBI36
Celera	16	1,494,263 - 1,494,407	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,211,428 - 1,211,572	UniSTS
HuRef	16	1,223,088 - 1,223,232	UniSTS
GeneMap99-GB4 RH Map	16	30.02	UniSTS

RH78935

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,292,538 - 1,292,668	UniSTS	GRCh37
GRCh37	16	1,278,223 - 1,278,353	UniSTS	GRCh37
Build 36	16	1,218,224 - 1,218,354	RGD	NCBI36
Celera	16	1,494,116 - 1,494,246	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,211,281 - 1,211,411	UniSTS
HuRef	16	1,222,941 - 1,223,071	UniSTS
GeneMap99-GB4 RH Map	16	30.02	UniSTS

RH69115

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,292,311 - 1,292,459	UniSTS	GRCh37
GRCh37	16	1,278,432 - 1,278,580	UniSTS	GRCh37
Build 36	16	1,218,433 - 1,218,581	RGD	NCBI36
Celera	16	1,494,325 - 1,494,473	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,211,490 - 1,211,638	UniSTS
HuRef	16	1,223,150 - 1,223,298	UniSTS
GeneMap99-GB4 RH Map	16	38.83	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2371	2785	2228	4742	1687	2209	3	608	1428	449	2198	6656	5925	33	3574	796	1658	1493	165

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_032951	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_178183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC120498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AE006466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF099143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH007463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308208	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AMYH02031223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ931119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FJ931120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M33492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M33493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S55551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000606293 ⟹ ENSP00000482743

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,336 - 1,230,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000611196 ⟹ ENSP00000484461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,227,272 - 1,230,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000612142 ⟹ ENSP00000478695

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,336 - 1,230,166 (-)	Ensembl

Ensembl Acc Id:

ENST00000711420

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,335 - 1,232,757 (-)	Ensembl

Ensembl Acc Id:

ENST00000711421 ⟹ ENSP00000518738

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,336 - 1,230,184 (-)	Ensembl

Ensembl Acc Id:

ENST00000905921 ⟹ ENSP00000575980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,336 - 1,230,124 (-)	Ensembl

Ensembl Acc Id:

ENST00000905922 ⟹ ENSP00000575981

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,337 - 1,230,120 (-)	Ensembl

Ensembl Acc Id:

ENST00000905923 ⟹ ENSP00000575982

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,338 - 1,229,951 (-)	Ensembl

Ensembl Acc Id:

ENST00000955802 ⟹ ENSP00000625861

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,336 - 1,233,725 (-)	Ensembl

Ensembl Acc Id:

ENST00000955803 ⟹ ENSP00000625862

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,228,336 - 1,230,184 (-)	Ensembl

RefSeq Acc Id:

NM_024164 ⟹ NP_077078

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,228,336 - 1,230,184 (-)	NCBI
GRCh37	16	1,278,336 - 1,280,185 (-)	ENTREZGENE
Build 36	16	1,218,337 - 1,220,186 (-)	NCBI Archive
HuRef	16	1,211,394 - 1,224,892 (-)	ENTREZGENE
CHM1_1	16	1,278,009 - 1,279,872 (-)	NCBI
T2T-CHM13v2.0	16	1,243,646 - 1,245,495 (-)	NCBI

Sequence:

show sequence

AGAAGGAACAGGGAGCGGCCAGGATGCTGAATCTGCTGCTGCTGGCGCTGCCCGTCCTGGCGAG
CCGCGCCTACGCGGCCCCTGCCCCAGGCCAGGCCCTGCAGCGAGTGGGCATCGTTGGGGGTCAG
GAGGCCCCCAGGAGCAAGTGGCCCTGGCAGGTGAGCCTGAGAGTCCGCGACCGATACTGGATGC
ACTTCTGCGGGGGCTCCCTCATCCACCCCCAGTGGGTGCTGACCGCAGCGCACTGCGTGGGACC
GGACGTCAAGGATCTGGCCGCCCTCAGGGTGCAACTGCGGGAGCAGCACCTCTACTACCAGGAC
CAGCTGCTGCCGGTCAGCAGGATCATCGTGCACCCACAGTTCTACACCGCCCAGATCGGAGCGG
ACATCGCCCTGCTGGAGCTGGAGGAGCCGGTGAACGTCTCCAGCCACGTCCACACGGTCACCCT
GCCCCCTGCCTCAGAGACCTTCCCCCCGGGGATGCCGTGCTGGGTCACTGGCTGGGGCGATGTG
GACAATGATGAGCGCCTCCCACCGCCATTTCCTCTGAAGCAGGTGAAGGTCCCCATAATGGAAA
ACCACATTTGTGACGCAAAATACCACCTTGGCGCCTACACGGGAGACGACGTCCGCATCGTCCG
TGACGACATGCTGTGTGCCGGGAACACCCGGAGGGACTCATGCCAGGGCGACTCCGGAGGGCCC
CTGGTGTGCAAGGTGAATGGCACCTGGCTGCAGGCGGGCGTGGTCAGCTGGGGCGAGGGCTGTG
CCCAGCCCAACCGGCCTGGCATCTACACCCGTGTCACCTACTACTTGGACTGGATCCACCACTA
TGTCCCCAAAAAGCCGTGAGTCAGGCCTGGGGTGTCCACCTGGGTCACTGGAGAGCCAGCCCCT
CCTGTTCAAAACACCACTGCTTCCTACCCAGGTGGCGACTGCCCCCCACACCTTCCCTGCCCCG
TCCTGAGTGCCCCTTCCTGTCCTAAGCCCCCTGCTCTCTTCTGAGCCCCTTCCCCTGTCCTGAG
GACCCTTCCCCATCCTGAGCCCCCTTCCCTGTCCTAAGCCTGACGCCTGCACCGGGCCCTCCGG
CCCTCCCCTGCCCAGGCAGCTGGTGGTGGGCGCTAATCCTCCTGAGTGCTGGACCTCATTAAAG
TGCATGGAAATCA

hide sequence

RefSeq Acc Id:

NR_178183

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	16	1,243,646 - 1,245,495 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_077078	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36779	(Get FASTA)	NCBI Sequence Viewer
	AAA36780	(Get FASTA)	NCBI Sequence Viewer
	AAD13876	(Get FASTA)	NCBI Sequence Viewer
	AAD17857	(Get FASTA)	NCBI Sequence Viewer
	AAD17858	(Get FASTA)	NCBI Sequence Viewer
	AAD17859	(Get FASTA)	NCBI Sequence Viewer
	AAH28059	(Get FASTA)	NCBI Sequence Viewer
	AAH29356	(Get FASTA)	NCBI Sequence Viewer
	AAK61270	(Get FASTA)	NCBI Sequence Viewer
	ACZ98913	(Get FASTA)	NCBI Sequence Viewer
	AEE61074	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000482743
	ENSP00000482743.1
GenBank Protein	P20231	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_077078 ⟸ NM_024164
- Peptide Label:	preproprotein
- UniProtKB:	Q9UQI7 (UniProtKB/Swiss-Prot), Q9UQI6 (UniProtKB/Swiss-Prot), Q15664 (UniProtKB/Swiss-Prot), O95827 (UniProtKB/Swiss-Prot), D2E6S2 (UniProtKB/Swiss-Prot), D2E6S0 (UniProtKB/Swiss-Prot), P20231 (UniProtKB/Swiss-Prot), A0A140VJT7 (UniProtKB/TrEMBL), A0A384MTT9 (UniProtKB/TrEMBL), Q6B051 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLNLLLLALPVLASRAYAAPAPGQALQRVGIVGGQEAPRSKWPWQVSLRVRDRYWMHFCGGSLI HPQWVLTAAHCVGPDVKDLAALRVQLREQHLYYQDQLLPVSRIIVHPQFYTAQIGADIALLELE EPVNVSSHVHTVTLPPASETFPPGMPCWVTGWGDVDNDERLPPPFPLKQVKVPIMENHICDAKY HLGAYTGDDVRIVRDDMLCAGNTRRDSCQGDSGGPLVCKVNGTWLQAGVVSWGEGCAQPNRPGI YTRVTYYLDWIHHYVPKKP hide sequence

Ensembl Acc Id:

ENSP00000484461 ⟸ ENST00000611196

Ensembl Acc Id:

ENSP00000478695 ⟸ ENST00000612142

Ensembl Acc Id:

ENSP00000482743 ⟸ ENST00000606293

Ensembl Acc Id:

ENSP00000518738 ⟸ ENST00000711421

Ensembl Acc Id:

ENSP00000625862 ⟸ ENST00000955803

Ensembl Acc Id:

ENSP00000575980 ⟸ ENST00000905921

Ensembl Acc Id:

ENSP00000625861 ⟸ ENST00000955802

Ensembl Acc Id:

ENSP00000575981 ⟸ ENST00000905922

Ensembl Acc Id:

ENSP00000575982 ⟸ ENST00000905923

Protein Domains

Peptidase S1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P20231-F1-model_v2	AlphaFold	P20231	1-275	view protein structure

Promoters

RGD ID:

7230875

Promoter ID:

EPDNEW_H21182

Type:

initiation region

Name:

TPSB2_1

Description:

tryptase beta 2 (gene/pseudogene)

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,230,184 - 1,230,244	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14120	AgrOrtholog
COSMIC	TPSB2	COSMIC
Ensembl Genes	ENSG00000197253	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000606293	ENTREZGENE
	ENST00000606293.5	UniProtKB/Swiss-Prot
Gene3D-CATH	2.40.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000197253	GTEx
HGNC ID	HGNC:14120	ENTREZGENE
Human Proteome Map	TPSB2	Human Proteome Map
InterPro	Peptidase_S1_PA	UniProtKB/Swiss-Prot
	Peptidase_S1_PA_chymotrypsin	UniProtKB/Swiss-Prot
	Peptidase_S1A	UniProtKB/Swiss-Prot
	Trypsin_dom	UniProtKB/Swiss-Prot
	TRYPSIN_HIS	UniProtKB/Swiss-Prot
	TRYPSIN_SER	UniProtKB/Swiss-Prot
KEGG Report	hsa:64499	UniProtKB/Swiss-Prot
NCBI Gene	64499	ENTREZGENE
OMIM	191081	OMIM
PANTHER	CHYMOTRYPSIN-LIKE PROTEASE CTRL-1-RELATED	UniProtKB/Swiss-Prot
	TRANSMEMBRANE PROTEASE SERINE	UniProtKB/Swiss-Prot
Pfam	Trypsin	UniProtKB/Swiss-Prot
PharmGKB	PA37846	PharmGKB
PRINTS	CHYMOTRYPSIN	UniProtKB/Swiss-Prot
PROSITE	TRYPSIN_DOM	UniProtKB/Swiss-Prot
	TRYPSIN_HIS	UniProtKB/Swiss-Prot
	TRYPSIN_SER	UniProtKB/Swiss-Prot
SMART	Tryp_SPc	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF50494	UniProtKB/Swiss-Prot
UniProt	A0A087WUI4_HUMAN	UniProtKB/TrEMBL
	A0A087X1U0_HUMAN	UniProtKB/TrEMBL
	A0A140VJT7	ENTREZGENE, UniProtKB/TrEMBL
	A0A384MTT9	ENTREZGENE, UniProtKB/TrEMBL
	A0AAA9YHG7_HUMAN	UniProtKB/TrEMBL
	D2E6S0	ENTREZGENE
	D2E6S2	ENTREZGENE
	O95827	ENTREZGENE
	P20231	ENTREZGENE
	Q15664	ENTREZGENE
	Q6B051	ENTREZGENE, UniProtKB/TrEMBL
	Q6FHB8_HUMAN	UniProtKB/TrEMBL
	Q6NZY1_HUMAN	UniProtKB/TrEMBL
	Q9UQI6	ENTREZGENE
	Q9UQI7	ENTREZGENE
	TRYB2_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	D2E6S0	UniProtKB/Swiss-Prot
	D2E6S2	UniProtKB/Swiss-Prot
	O95827	UniProtKB/Swiss-Prot
	Q15664	UniProtKB/Swiss-Prot
	Q9UQI6	UniProtKB/Swiss-Prot
	Q9UQI7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-05-11	TPSB2	tryptase beta 2	TPSB2	tryptase beta 2 (gene/pseudogene)	Symbol and/or name change	19259463	PROVISIONAL
2011-07-27	TPSB2	tryptase beta 2 (gene/pseudogene)	TPSB2	tryptase beta 2	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD