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TSC2 Gene

protein-coding GIFtS: 72

GC16P002038

tuberous sclerosis 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TSC4)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
FLJ43106 ^²
LAM ^¹, ², ⁵
TSC4 ^², ³
tuberin ^¹, ²

Descriptions
Tuberous sclerosis 2 protein ^³
tuberous sclerosis 2 ^²

External Ids
HGNC: 12363¹
Entrez Gene: 7249²
UniProtKB: P49815³
Ensembl: ENSG00000103197⁷

Search outside databases for aliases for TSC2 gene

Previous GC identifer: GC16P002115

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for TSC2:

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]

UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815

Function: Implicated as a tumor suppressor. May have a function in vesicular transport, but may

also play a role in the regulation of cell growth arrest and in the regulation of transcription

mediated by steroid receptors. Interaction between TSC1 and TSC2 may facilitate vesicular docking.

Specifically stimulates the intrinsic GTPase activity of the Ras-related protein RAP1A and RAB5.

Suggesting a possible mechanism for its role in regulating cellular growth. Mutations in TSC2

leads to constitutive activation of RAP1A in tumors

Gene Wiki entry for TSC2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TSC2 gene

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

TSC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P002038: (about GC identifiers)

Start:	2,037,991 bp from pter
End:	2,078,714 bp from pter
Size:	40,724 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000016.8 NT_037887.4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815 (See protein sequence)

Recommended Name: Tuberin

Size: 1807 amino acids; 200749 Da

Subunit: Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the

interaction with HERC1. May also interact with the adapter molecule RABEP1. The final complex

contains TSC2 and RABEP1 linked to RAB5 (Probable). Interacts with HSPA1 and HSPA8

Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found

in association with membranes

Secondary accessions: O75275 Q8TAZ1

Alternative splicing: 4 isoforms: P49815-1 P49815-2 P49815-3 P49815-4 (Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms)

Post-translational modifications:

Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000539.2 NP_001070651.1 NP_001107854.1

ENSEMBL proteins:

ENSP00000371978 ENSP00000384468 ENSP00000219476 ENSP00000344383 ENSP00000248099

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Tuberin)
	Human Recombinant Proteins from Abnova (TSC2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/9 Gene Ontology (GO) cellular component terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005624	membrane fraction	IDA	16636147
GO:0005634	NOT nucleus	IDA	16636147
GO:0005737	colocalizes with cytoplasm	IDA	17114346
GO:0005794	NOT Golgi apparatus	IDA	10585443

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Antibodies for TSC2:

	Invitrogen Antibodies for TSC2
	Millipore Mono- and Polyclonal Antibodies for the study of TSC2
	Sigma-Aldrich Antibodies for TSC2
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for TSC2 (Tuberin)
	Antibodies from Abcam (Tuberin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TSC2)
	Novus Biologicals Antibodies for TSC2

Assays for TSC2:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of TSC2
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P49815

ProtoNet protein and cluster: P49815

2 Blocks protein families:

IPB000331 Rap/ran-GAP

IPB003913 Tuberin signature

UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815

Similarity: Contains 1 Rap-GAP domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TSC2)
		Millipore RNAi Products for the Analysis of TSC2 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (TSC2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_000548

Applied Biosystems Silencer® siRNAs for TSC2

Sigma-Aldrich siRNA and siRNA Panels for TSC2

Sigma-Aldrich shRNA Panels and shRNA for TSC2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000548
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000548
untagged cDNA clones in CMV expression vector (see all 4): NM_000548

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000548

UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815

Function: Implicated as a tumor suppressor. May have a function in vesicular transport, but may

also play a role in the regulation of cell growth arrest and in the regulation of transcription

mediated by steroid receptors. Interaction between TSC1 and TSC2 may facilitate vesicular docking.

Specifically stimulates the intrinsic GTPase activity of the Ras-related protein RAP1A and RAB5.

Suggesting a possible mechanism for its role in regulating cellular growth. Mutations in TSC2

leads to constitutive activation of RAP1A in tumors

15 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Tsc2):

	behavior/neurological	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	homeostasis/metabolism	lethality-prenatal/perinatal	liver/biliary system	muscle
nervous system	normal	renal/urinary system	skin/coat/nails	tumorigenesis

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005096	GTPase activator activity	IDA	9045618
GO:0005515	protein binding	IPI	9580671 10585443 12364343
GO:0042803	protein homodimerization activity	IPI	10585443

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Sigma-Aldrich "Your Favorite Gene" Pathways for TSC2 (Your Favorite Gene powered by Ingenuity)

14-3-3-mediated Signaling
Insulin Receptor Signaling
PI3K/AKT Signaling

GeneDecks TSC2 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for TSC2

5/76 Interacting proteins for TSC2 (ENSP00000219476³ P49815^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 76 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²	STRING (score=.996) MINT-16860 MINT-16861 MINT-3294932 MINT-15413 MINT-3294490 MINT-3317863
YWHAB	P31946²	STRING (score=.992) MINT-15978 MINT-50944 MINT-15979 MINT-17162 MINT-15977
YWHAG	P61981²	STRING (score=.965) MINT-16555 MINT-16556 MINT-16557
SFN	P31947²	STRING (score=.96) MINT-17710
YWHAE	P62258²	STRING (score=.965) MINT-17206

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5/15 Gene Ontology (GO) biological process terms (links to tree view) (see all 15 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001843	neural tube closure	ISS	--
GO:0006469	negative regulation of protein kinase activity	ISS	--
GO:0006606	protein import into nucleus	ISS	--
GO:0007507	heart development	ISS	--
GO:0008104	protein localization	ISS	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for TSC2
10/16 Novoseek chemical compound relationships for TSC2 gene (see all 16 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
wortmannin	50.97	6	12867426 (1), 15626752 (1), 16053916 (1), 15579767 (1) (see all 5)
phosphatidylinositol	40.07	10	12167664 (2), 12438239 (2), 14982927 (1), 16459993 (1) (see all 7)
phosphoinositide	35.09	6	12867426 (2), 19143635 (1), 12773160 (1), 16231158 (1) (see all 5)
threonine	22.30	3	17458623 (1), 18555664 (1), 14993219 (1)
gtp	17.46	9	19176517 (2), 15772076 (2), 15340059 (1), 14729330 (1) (see all 6)
okadaic acid	13.74	5	16150885 (3), 19070673 (1)
guanosine	7.93	2	14668532 (1), 19176517 (1)
oxygen	3.22	1	16322235 (1)
glucose	2.65	11	18650261 (6), 15509864 (1)
lipid	1.09	1	12147258 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TSC2)
		Millipore RNAi Products for the Analysis of TSC2 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (TSC2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_000548

Sigma-Aldrich siRNA and siRNA Panels for TSC2

Sigma-Aldrich shRNA Panels and shRNA for TSC2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000548 NM_001077183 NM_001114382

REFSEQ mRNAs for TSC2 gene (3 alternative transcripts):

NM_000548.3 NM_001077183.1 NM_001114382.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000548 NM_001077183 NM_001114382

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000548
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000548
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_000548

Additional cDNA sequence:

AB210000.1 AK094152.1 AK125096.1 AK294548.1 AK295672.1 AK295728.1 AK299343.1 BC025364.1

BC046929.1 BC150300.1 BX647816.1 CR601803.1 CR613640.1 X75621.1

24/30 DOTS entries (see all 30 ):

DT.120674930 DT.100037834 DT.447378 DT.100820455 DT.95360119 DT.101973887 DT.100721251 DT.100775042

DT.95199164 DT.70104277 DT.91644432 DT.86844536 DT.100820454 DT.120674892 DT.91853013 DT.91901331

DT.97760273 DT.100000256 DT.120674936 DT.120675020 DT.120674882 DT.120674961 DT.120674991 DT.120675024

24/309 AceView cDNA sequences (see all 309 ):

BQ025541 BU168143 AU134449 AL519820 BI554180 BF724869 NM_021055 BM987875

AW950530 CR613640 BC046929 NM_000548 BM467508 BM981801 BC025364 BG413371

CD367702 BM546795 AI962215 BU159938 BI856165 BG818177 AW576510 X75621

highest scoring ESTs for TSC2:

X75621 AA132707 AA299573 AA469955 AA564093 AA595571 AA599437 AA608516 AA610301 AA653136

Unigene Cluster for TSC2:

Tuberous sclerosis 2

Hs.90303 [show with all ESTs]

Unigene Representative Sequence: NM_000548

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for TSC2 (see all 18 )

ExUns:	1	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15a	·	15b	^	16a	·	16b	^	17a	·	17b	·	17c	·	17d	^	18	^	19	^
SP1:			-								-																						-				-				-
SP2:
SP3:
SP4:
SP5:

ExUns:	20a	·	20b	^	21	^	22a	·	22b	^	23a	·	23b	^	24	^	25a	·	25b	·	25c	·	25d	^	26	^	27a	·	27b	^	28a	·	28b	^	29a	·	29b	·	29c	^	30a	·	30b	·	30c	^	31	^	32	^	33a	·
SP1:																							-				-		-		-
SP2:
SP3:																							-				-		-		-
SP4:																							-
SP5:																							-				-		-		-

ExUns:	33b	^	34a	·	34b	^	35a	·	35b	^	36	^	37a	·	37b	·	37c	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45a	·	45b
SP1:			-		-		-		-
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for TSC2

5 Ensembl transcripts including schematic representations:

ENST00000382538 ENST00000401874 ENST00000219476 ENST00000350773 ENST00000353929

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TSC2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TSC2

¹ / ² / ³

5 probe-sets matching TSC2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38813_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	X75621	1.00	1.00	1.00	1
215735_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
215624_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AU147962	0.40	1.00	0.76	1
215735_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215624_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GAGGGCCTTG

SOURCE GeneReport for Unigene cluster: Hs.90303
Expression variation in blood from EXPOLDB for TSC2
UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815
Tissue specificity: Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas,
skeletal muscle, kidney, lung and placenta

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TSC2 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TSC2¹	--	tuberous sclerosis 2	86.86(n) 91.74(a)	479883 XM_846954.1 XP_852047.1
chimpanzee (Pan troglodytes)	TSC2¹	--	tuberous sclerosis 2	99.09(n) 99.17(a)	468086 XM_523477.2 XP_523477.2
cow (Bos taurus)	TSC2¹	--	tuberous sclerosis 2	87.62(n) 91.74(a)	504985 XM_581197.3 XP_581197.3
rat (Rattus norvegicus)	Tsc2¹	--	tuberous sclerosis 2	85.2(n) 91.3(a)	24855 NM_012680.2 NP_036812.2
mouse (Mus musculus)	Tsc2^{1, 5}	17 (10.30 cM)⁵	tuberous sclerosis 2^{1, 5}	85.13(n)¹ 91.74(a)¹	22084¹ NM_011647.2¹ NP_035777.2¹ AB009371⁵ AF132986⁵ (see all 72)

About this table Species with no ortholog for TSC2

ENSEMBL Gene Tree for TSC2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for TSC2 gene

C20orf74² GARNL1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/700 NCBI SNPs in TSC2 are shown (see all 700 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 215)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs34870424^1,2	C,F	2070191(-)	`CCAGGG/ACGCCA`	3	V/A	mis¹		5		NA EU EA WA	486
	rs1800748^1,2	C,F	2048756(+)	`CCTACA/GTGGAG`	3	M/V	mis¹		7		NA EA EU WA	671
--	rs45517118^1,2	C	2046244(+)	`ACATAA/G/TAGGTC`	6	E/K E/X	mis¹ non¹		0	--	--	--	--
--	rs1800725^1,2	C	2050796(+)	`CGAACA/GGCTCC`	3	R/Q	mis¹		0	--	--	--	--
--	rs45473098^1,2	C	2070245(+)	`ACCACA/G/TGACTG`	6	R/Q R/L	mis¹		0	--	--	--	--
	rs1800729^1,2	C	2060488(+)	`GCCACG/ACCACG`	3	T/A	mis¹		3		NA EA	252
--	rs45455897^1,2	C	2075282(+)	`TCATAA/C/GGACAC`	6	Y/X	non¹		0	--	--	--	--
	rs35660529^1,2	C	2043369(-)	`CGACCG/ACCTTC`	3	V/A	mis¹		1		NA	72
	rs45517153^1,2	C	2050689(+)	`CCGAAA/C/TGAGGT`	6	N/K N/N	mis¹ syn¹		0	--	--	--	--
--	rs45469298^1,2	C	2060572(+)	`GCATCC/G/TGGCTG`	6	R/G R/W	mis¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for TSC2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 191092 disorders: 191100 606690

UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815

Defects in TSC2 are the cause of tuberous sclerosis complex (TSC) [MIM:191100]. The

molecular basis of TSC is a functional impairment of the tuberin-hamartin complex. TSC is an

autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and

skin. TSC is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue

type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue

combination). Clinical symptoms can range from benign hypopigmented macules of the skin to

profound mental retardation with intractable seizures to premature death from a variety of

disease-associated causes

Defects in TSC2 are a cause of lymphangioleiomyomatosis (LAM) [MIM:606690]. LAM is a

progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal

smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an

isolated disorder or in association with tuberous sclerosis complex

10/69 Novoseek disease relationships for TSC2 gene (see all 69 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tuberous sclerosis	98.49	455	9007104 (4), 9444353 (4), 15072102 (3), 11307618 (3) (see all 99)
lymphangioleiomyomatosis	91.11	22	11406664 (2), 16424383 (2), 12010366 (2), 17114346 (2) (see all 15)
hamartoma	90.39	73	9310961 (4), 11468687 (3), 11112665 (2), 12773159 (2) (see all 49)
angiomyolipoma	87.98	66	10823953 (3), 12010366 (3), 9529362 (3), 19265534 (3) (see all 25)
astrocytoma subependymal giant cell	87.97	18	15072102 (5), 9310961 (2), 16237225 (1), 10805093 (1) (see all 8)
kidney angiomyolipoma	79.68	5	12192641 (2), 11355103 (1), 19005330 (1), 19265534 (1)
lymphangiomyomatosis	79.54	3	11208653 (1), 9529362 (1)
rhabdomyoma	78.51	9	16940165 (3), 16877242 (2), 16554133 (1), 12202993 (1) (see all 5)
angiofibroma	78.00	17	12641776 (6), 11553313 (2), 18835623 (1), 16965334 (1) (see all 5)
adpkd	69.54	20	15007723 (2), 9306341 (2), 9631851 (1), 16567633 (1) (see all 14)

About this table

Genatlas disease: TSC2

tuberous sclerosis 2,multisystem disorder characterized by the widespread development of

hamartomatous growths noteworthy in eyes,heart,skin and brain,with seizures,behavioral disorder

and a renal angiomyolipoma and lymphangiomatosis,with a high risk of mental retardation

GeneTests: TSC2

Tuberous Sclerosis Complex

Human Gene Mutation Database: TSC2
Genetic Association Database: TSC2
Human Genome Epidemiology Navigator: TSC2 (12 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Second Gene Responsible for Tuberous Sclerosis Complex Identified

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/495 PubMed articles for TSC2 gene (see all 495 ):

Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. (PubMed id 7558029)^{2, 3, 4} Xu L....Ramesh V. (1995)
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. (PubMed id 9302281)^{1, 3, 4} Maheshwar M.M.... Sampson J.R. (1997)
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. (PubMed id 15024740)^{1, 3, 4} Feng J.-H.... Ohno K. (2004)
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. (PubMed id 15798777)^{1, 3, 6} Sancak O....van den Ouweland A. (2005)
Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis. (PubMed id 10205261)^{1, 3, 4} Jones A.C.... Cheadle J.P. (1999)
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. (PubMed id 9580671)^{1, 3, 4} van Slegtenhorst M.A.... van der Sluijs P. (1998)
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. (PubMed id 8824881)^{1, 3, 4} Wilson P.J.... Haines J.L. (1996)
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. (PubMed id 11112665)^{1, 3, 6} Dabora S.L....Kwiatkowski D.J. (2001)
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. (PubMed id 15963462)^{1, 3, 4} Nellist M....Luider T.M. (2005)
[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism] (PubMed id 14756965)^{1, 3, 6} Feng J.H....Yang C.W. (2003)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7249	HGNC: 12363	AceView: TSC2	Ensembl:ENSG00000103197	euGenes: HUgn7249
ECgene: TSC2	H-InvDB: TSC2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for TSC2	Genetics and Cytogenetics in Oncology and Haematology
Cardiff-Rotterdam TS Database	http://uwcmml1s.uwcm.ac.uk/uwcm/mg/tsc_db/
TSC variation database	http://zk.bwh.harvard.edu/ts/
GeneReviews	http://www.genetests.org/query?gene=TSC2

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TSC2 Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for TSC2

Summaries
for TSC2

Genomic Location
for TSC2

Proteins
for TSC2

Protein Domains/
Families
for TSC2

Gene Function
for TSC2

Pathways & Interactions
for TSC2

Drugs & Compounds
for TSC2

Transcripts
for TSC2

Expression
for TSC2

Orthologs
for TSC2

Paralogs
for TSC2

SNPs/Variants
for TSC2

Disorders & Mutations
for TSC2

Medical News
for TSC2

Publications
for TSC2

Search for TSC2

Genome Databases showing TSC2

Other Databases showing TSC2

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TSC2 Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor TSC2

Summariesfor TSC2

Genomic Locationfor TSC2

Proteinsfor TSC2

Protein Domains/Familiesfor TSC2

Gene Functionfor TSC2

Pathways & Interactionsfor TSC2

Drugs & Compoundsfor TSC2

Transcriptsfor TSC2

Expression for TSC2

Orthologsfor TSC2

Paralogsfor TSC2

SNPs/Variantsfor TSC2

Disorders & Mutationsfor TSC2

Medical Newsfor TSC2

Publicationsfor TSC2

Search for TSC2

Genome Databases showing TSC2

Other Databases showing TSC2

Specialized Databases showing TSC2

Licensable Technologiesfor TSC2

Servicesfor TSC2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TSC2

Summaries
for TSC2

Genomic Location
for TSC2

Proteins
for TSC2

Protein Domains/
Families
for TSC2

Gene Function
for TSC2

Pathways & Interactions
for TSC2

Drugs & Compounds
for TSC2

Transcripts
for TSC2

Expression
for TSC2

Orthologs
for TSC2

Paralogs
for TSC2

SNPs/Variants
for TSC2

Disorders & Mutations
for TSC2

Medical News
for TSC2

Publications
for TSC2

Licensable Technologies
for TSC2

Services
for TSC2