TSC2 Gene
protein-coding GIFtS: 70
GCID: GC16P002097
|
|
tuberous sclerosis 2
(Previous symbol: TSC4)
| |
Aliases
for TSC2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Tuberous Sclerosis 21 2 | | TSC41 2 3 | | LAM1 2 5 | | Tuberin1 | | Tuberous Sclerosis 2 Protein2 3 |
Export aliases for TSC2 gene to outside databasesPrevious GC identifers: GC16P002115 GC16P002038 GC16P002037 |
Summaries
for TSC2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TSC2:
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and isable to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as achaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815Function: In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 andEIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPaseRHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved inmicrotubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly theintrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutiveactivation of RAP1A in tumors
Gene Wiki entry for TSC2
|
Genomic Views
for TSC2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010393.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TSC2 gene promoter:
NF-1 STAT3
Other transcription factors
Search SABiosciences Chromatin IP Primers for TSC2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSC2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3TSC2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P002097: view genomic region
(about GC identifiers)
Start:
|
2,097,466 bp from pter |
End:
|
2,138,716 bp from pter |
Size:
|
41,251 bases |
Orientation:
|
plus strand |
|
Proteins
for TSC2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815 (See
protein sequence)Recommended Name: Tuberin Size: 1807 amino acids; 200608 Da
Subunit: Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction withHERC1. May also interact with the adapter molecule RABEP1. The final complex contains TSC2 and RABEP1 linked to RAB5(Probable). Interacts with HSPA1 and HSPA8. Interacts with DAPK1 and FBXW5
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association withmembranes
Sequence caution: Sequence=BAE06082.1; Type=Erroneous initiation;
Secondary accessions: A7E2E2 B4DIQ7 B4DRN2 C9J378 O75275 Q4LE71 Q8TAZ1Alternative splicing: 6 isoforms: P49815-1 P49815-2 P49815-3 P49815-4 P49815-5 P49815-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TSC2: NX_P49815
Post-translational modifications:
Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1. Phosphorylation at Ser-939 andThr-1462 by PKB/AKT1 is induced by growth factor stimulation. Phosphorylation by AMPK activates it and leads tonegatively regulates the mTORC1 complex. Phosphorylated at Ser-1798 by RPS6KA1; phosphorylation inhibits TSC2 abilityto suppress mTORC1 signaling. Phosphorylated by DAPK11
Ubiquitinated by the DCX(FBXW5) E3 ubiquitin-protein ligase complex, leading to its subsequent degradation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P49815
TSC2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_000539.2 NP_001070651.1 NP_001107854.1
ENSEMBL proteins: ENSP00000219476 ENSP00000371978 ENSP00000384468 ENSP00000399232 ENSP00000344383 ENSP00000406980 ENSP00000454487 ENSP00000387937 ENSP00000454997 ENSP00000455997 ENSP00000460310 ENSP00000458541 ENSP00000455817 ENSP00000248099 Reactome Protein details: P49815
Human Recombinant Protein Products:
Gene Ontology (GO): 5/18 cellular component terms (GO ID links to tree view) (see all 18): About this table
TSC2 for ontologies About GeneDecksing
TSC2 Antibody Products:
Assay Products for TSC2: |
Protein
Domains /
Families
for TSC2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TSC2 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P49815ProtoNet protein and cluster: P49815 2 Blocks protein families: IPB000331 Rap/ran-GAP IPB003913 Tuberin signature
UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815Similarity: Contains 1 Rap-GAP domain |
Function
for TSC2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815Function: In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 andEIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase-activating protein (GAP) for the small GTPaseRHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved inmicrotubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly theintrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutiveactivation of RAP1A in tumors
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSC2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSC2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): TSC2 (NM_004089) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TSC2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSC2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC2 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
TSC2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TSC2:
Animal Models:
Mouse knock-outs for TSC2: Tsc2tm1Djk Tsc2tm1.2Mjg Tsc2tm1.1Kido
15/16 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Tsc2) (see all 16):
TSC2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for TSC2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/40 super-pathways (see all 40) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Development_CNTF receptor signaling | | | 2 | Signaling by FGFR | | | 3 | PIP3 activates AKT signaling | | | 4 | IRS-related events | | | 5 | G-protein signaling Rap1A regulation pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/15 EMD Millipore Pathways for TSC2 (see all 15)
5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TSC2 (see all 6)
3 
Cell Signaling Technology (CST) Pathways for TSC2
5/15  GeneGo (Thomson Reuters) Pathways for TSC2 (see all 15)
5/12  BioSystems Pathways for TSC2 (see all 12)
5/43 
Reactome Pathways for TSC2 (see all 43)
3 
Kegg Pathways (Kegg details for TSC2):
TSC2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TSC2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/148 Interacting proteins for TSC2 (P498151, 2, 3 ENSP000002194764) via UniProtKB, MINT, STRING, and/or I2D (see all 148)About this table
Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37): About this table
TSC2 for ontologies About GeneDecksing
|
Drugs & Compounds
for TSC2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
TSC2 for compounds About GeneDecksing
 Browse Tocris compounds for TSC2
10/25 Novoseek chemical compound relationships for TSC2 gene (see all 25) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| rapamycin |
89.6 |
117 |
19539245 (3), 12957289 (3), 17043358 (2), 18650261 (2) (see all 74) |
| wortmannin |
50.8 |
6 |
12867426 (1), 15626752 (1), 16053916 (1), 15579767 (1) (see all 5) |
| phosphatidylinositol |
42.4 |
10 |
12167664 (2), 12438239 (2), 14982927 (1), 16459993 (1) (see all 7) |
| phosphoinositide |
37.8 |
6 |
12867426 (2), 19143635 (1), 12773160 (1), 16231158 (1) (see all 5) |
| ly294002 |
33 |
3 |
12167664 (1), 16150885 (1), 15579767 (1) |
| threonine |
20.1 |
3 |
17458623 (1), 18555664 (1), 14993219 (1) |
| gtp |
15.6 |
9 |
19176517 (2), 15772076 (2), 15340059 (1), 14729330 (1) (see all 6) |
| serine |
12.2 |
6 |
11290735 (2), 17458623 (1), 14993219 (1), 18555664 (1) |
| okadaic acid |
11.9 |
5 |
16150885 (3), 19070673 (1) |
| estrogen |
8.23 |
18 |
17114346 (3), 12581886 (2), 15039427 (2), 12700139 (2) (see all 7) |
Search CenterWatch for drugs/clinical trials and news about TSC2
|
Transcripts
for TSC2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TSC2 gene (5 alternative transcripts): NM_000548.3 NM_001077183.1 NM_001114382.1 NM_021055.1 NM_021056.1 Unigene Cluster for TSC2: Tuberous sclerosis 2 Hs.90303 [show with all ESTs]Unigene Representative Sequence: NM_00054818/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27): ENST00000219476(uc002con.3 uc010bsd.3 uc002coo.3 uc010uvv.2 uc010uvw.2 uc002cop.3)
ENST00000382538 ENST00000401874 ENST00000461648(uc010uvu.1) ENST00000439673
ENST00000350773 ENST00000439117 ENST00000568454 ENST00000432909 ENST00000568692
ENST00000467949 ENST00000463601 ENST00000568566 ENST00000490108 ENST00000568238
ENST00000488675 ENST00000562474 ENST00000563346
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSC2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSC2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): TSC2 (NM_004089) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TSC2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSC2 |
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 X75621.1 24/28 DOTS entries (see all 28): DT.120674930 DT.100037834 DT.447378 DT.100820455 DT.95360119 DT.101973887 DT.100721251 DT.100775042 DT.95199164 DT.86844536 DT.100820454 DT.120674892 DT.91901331 DT.100000256 DT.120674936 DT.120675020 DT.91853013 DT.120674882 DT.120674961 DT.120674991 DT.120675024 DT.120675033 DT.91678540 DT.92441898 24/309 AceView cDNA sequences (see all 309): BF724869 BU428800 AL519820 AK094152 BG413371 BU176147 AW005974 AW576510 CO248095 BQ025541 BG818177 BM467508 BM051603 CD367702 BC025364 CR613640 NM_000548 BU071095 NM_021055 BE892745 AU124993 BQ062032 BM987875 CD675300
GeneLoc Exon Structure
5/18 Alternative Splicing Database (ASD) splice patterns (SP) for TSC2 (see all 18) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TSC2
|
Expression
for TSC2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TSC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGGGCCTTG
About this image
See TSC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TSC2
SOURCE GeneReport for Unigene cluster: Hs.90303
UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815Tissue specificity: Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle,kidney, lung and placenta
SABiosciences Expression via Pathway-Focused PCR Arrays including TSC2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSC2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TSC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSC2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC2 |
Orthologs
for TSC2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TSC2 gene from 6/22 species (see all 22) About this table
ENSEMBL Gene Tree for TSC2 (if available)
TreeFam Gene Tree for TSC2 (if available) |
Paralogs
for TSC2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TSC2 gene
- RALGAPA22 RALGAPB2 RALGAPA12
2 SIMAP similar genes for TSC2 using alignment to 9 protein entries: TSC2_HUMAN (see all proteins):DKFZp686N1252 RALGAPA2
TSC2 for paralogs About GeneDecksing
|
Genomic Variants
for TSC2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TSC2 (2097466 - 2138716 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TSC2
2 CNVs: 30000 5329
Human Gene Mutation Database (HGMD): TSC2
Locus Specific Mutation Databases (LSDB): TSC2
| 5/18 SABiosciences Cancer Mutation PCR Assays for TSC2 (see all 18): |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSC2 |
|
Disorders
/ Diseases
for TSC2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TSC2 for disorders About GeneDecksing
OMIM gene information: 191092
OMIM disorders: 191100 606690
UniProtKB/Swiss-Prot: TSC2_HUMAN, P49815
Defects in TSC2 are the cause of tuberous sclerosis type 2 (TSC2) [MIM:613254]. TSC2 is an autosomal dominantmulti-system disorder that affects especially the brain, kidneys, heart, and skin. It 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 ofthe skin to profound mental retardation with intractable seizures to premature death from a variety ofdisease-associated causes Defects in TSC2 are a cause of lymphangioleiomyomatosis (LAM) [MIM:606690]. LAM is a progressive and oftenfatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affectsalmost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex
20/85  diseases for TSC2 (see all 85): About MalaCardstuberous sclerosis von hippel-lindau disease peutz-jeghers syndrome periventricular nodular heterotopia
subependymal giant cell astrocytoma acrofacial dysostosis perivascular epithelioid cell tumor lymphangioleiomyomatosis, somatic
subependymoma focal cortical dysplasia islet cell tumor tuberous sclerosis, type 2
kidney angiomyolipoma lymphangioleiomyomatosis angiomyolipoma pancreatic islet cell tumors
polycystic kidney disease horseshoe kidney cowden disease autism spectrum disorder
10 diseases from the University of Copenhagen DISEASES database for TSC2:Lymphangioleiomyomatosis Angiomyolipoma Kidney angiomyolipoma Autosomal dominant disease
Intellectual disability Genetic disorder Autistic disorder Subependymal giant cell astrocytoma
Perivascular epithelioid cell tumor Renal cell carcinoma 10/73 Novoseek disease relationships for TSC2 gene (see all 73) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tuberous sclerosis |
98.5 |
487 |
9007104 (4), 9444353 (4), 15072102 (3), 11307618 (3) (see all 99) |
| lymphangioleiomyomatosis |
92 |
26 |
11406664 (2), 16424383 (2), 17114346 (2), 12045200 (2) (see all 19) |
| hamartoma |
90.5 |
76 |
9310961 (4), 11468687 (3), 11112665 (2), 12773159 (2) (see all 52) |
| angiomyolipoma |
89 |
72 |
10823953 (3), 12010366 (3), 9529362 (3), 19265534 (3) (see all 30) |
| astrocytoma subependymal giant cell |
87.4 |
18 |
15072102 (5), 9310961 (2), 16237225 (1), 10805093 (1) (see all 8) |
| lymphangiomyomatosis |
78.8 |
3 |
11208653 (1), 9529362 (1) |
| kidney angiomyolipoma |
78.3 |
5 |
12192641 (2), 11355103 (1), 19005330 (1), 19265534 (1) |
| rhabdomyoma |
78.2 |
10 |
16940165 (3), 16877242 (2), 16554133 (1), 12202993 (1) (see all 6) |
| angiofibroma |
77.5 |
17 |
12641776 (6), 11553313 (2), 18835623 (1), 16965334 (1) (see all 5) |
| adpkd |
71.4 |
22 |
15007723 (2), 9306341 (2), 9631851 (1), 16567633 (1) (see all 15) |
Genatlas disease: TSC2 tuberous sclerosis 2,multisystem disorder characterized by the widespread development of hamartomatous growthsnoteworthy in eyes,heart,skin and brain,with seizures,behavioral disorder and a renal angiomyolipoma andlymphangiomatosis,with a high risk of mental retardation
GeneTests: TSC2
Tuberous Sclerosis Complex
Genetic Association Database (GAD): TSC2
Human Genome Epidemiology (HuGE) Navigator: TSC2 (20 documents)
Export disorders for TSC2 gene to outside databases
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Publications
for TSC2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for TSC2 gene, integrated from 9 sources (see all 629):
(articles sorted by number of sources associating them with TSC2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. (PubMed id 7558029)1, 2, 3 Xu L.... Ramesh V. (1995)
- TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase. (PubMed id 16464865)1, 2, 9 Chong-Kopera H....Guan K.L. (2006)
- 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, 2, 9 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, 2, 9 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, 4, 9 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, 2, 9 Jones A.C.... Cheadle J.P. (1999)
- Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. (PubMed id 9580671)1, 2, 9 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, 2, 9 Wilson P.J.... Haines J.L. (1996)
- TSC2 mediates cellular energy response to control cell growth and survival. (PubMed id 14651849)1, 2, 9 Inoki K....Guan K.L. (2003)
- 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, 4, 9 Dabora S.L....Kwiatkowski D.J. (2001)
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External Searches for TSC2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing TSC2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing TSC2 gene
(According to HUGE)
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Specialized Databases showing TSC2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for TSC2 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for TSC2 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSC2 |
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| Patent Information for TSC2 gene:
Search GeneIP for patents involving TSC2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for TSC2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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