TSC2

GENE INFORMATION

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Gene name

TSC2 (HGNC Symbol)

Synonyms

LAM, TSC4, tuberin

Description

tuberous sclerosis 2 (HGNC Symbol)

Entrez gene summary

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

16 (Chromosome progress)

Cytoband

p13.3

Chromosome location (bp)

2097466 - 2138716

Ensembl

ENSG00000103197 (version 73.37)

Entrez gene

7249

UniProt

P49815 (UniProt - Evidence at protein level)

neXtProt

NX_P49815

Antibodypedia

TSC2 antibodies
 

PROTEIN VIEW

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 « 
 
TSC2-001
 
TSC2-002
 
TSC2-003
 
TSC2-004
 
TSC2-006
 
TSC2-007
 
TSC2-009
 
TSC2-014
 
TSC2-015
 
TSC2-017
 
TSC2-019
 
TSC2-020
 
TSC2-021
 
TSC2-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TSC2-001 ENSP00000219476
ENST00000219476
P49815
Show all »
Show » Show » 1807 200.6 No 1
TSC2-002 ENSP00000406980
ENST00000439117
Q5HYF7
Show all »
Show » Show » 108 11.8 No 0
TSC2-003 ENSP00000384468
ENST00000401874
P49815
Show all »
Show » Show » 1740 193.2 No 1
TSC2-004 ENSP00000344383
ENST00000350773
P49815
Show all »
Show » Show » 1784 198.1 No 1
TSC2-006 ENSP00000454487
ENST00000568454
H3BMQ0
Show all »
Show » Show » 1751 194.4 No 1
TSC2-007 ENSP00000371978
ENST00000382538
B4DIL8
Show all »
Show » Show » 1692 188 No 1
TSC2-009 ENSP00000454997
ENST00000467949
H3BNT5
Show all »
Show » Show » 196 22 No 1
TSC2-014 ENSP00000458541
ENST00000471143
Show » 32 3.1 No 0
TSC2-015 ENSP00000460310
ENST00000483020
I3L3B1
Show all »
Show » 35 3.6 No 0
TSC2-017 ENSP00000399232
ENST00000439673
P49815
Show all »
Show » Show » 1704 189.3 No 1
TSC2-019 ENSP00000455817
ENST00000569110
Show » Show » 535 58.6 No 0
TSC2-020 ENSP00000387937
ENST00000432909
Show » 125 14.1 No 0
TSC2-021 ENSP00000455997
ENST00000568566
H3BQY7
Show all »
Show » 30 3.6 No 0
TSC2-201 ENSP00000248099
ENST00000353929
P49815
Show all »
Show » Show » 1764 195.8 No 1