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UniProtKB - P49815 (TSC2_HUMAN)

Entry version 229 (25 May 2022)
Sequence version 2 (24 Nov 2009)
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Protein

Tuberin

Gene

TSC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400).

Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:15340059).

May also play a role in microtubule-mediated protein transport (By similarity).

Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity).

By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation
Biological processHost-virus interaction

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P49815

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1632852, Macroautophagy
R-HSA-165181, Inhibition of TSC complex formation by PKB
R-HSA-198323, AKT phosphorylates targets in the cytosol
R-HSA-380972, Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-5674400, Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-8854214, TBC/RABGAPs

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P49815

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P49815

SIGNOR Signaling Network Open Resource

More...SIGNORi		P49815

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tuberin
Alternative name(s):
Tuberous sclerosis 2 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TSC2
Synonyms:TSC4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12363, TSC2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		191092, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P49815

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000103197

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Tuberous sclerosis 2 (TSC2)16 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant multi-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 manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009415137H → R in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45517107EnsemblClinVar.1
Natural variantiVAR_008020227C → Y in TSC2. Corresponds to variant dbSNP:rs45517122EnsemblClinVar.1
Natural variantiVAR_009417258K → N in TSC2. Corresponds to variant dbSNP:rs137854875EnsemblClinVar.1
Natural variantiVAR_009418261R → P in TSC2. Corresponds to variant dbSNP:rs45502703EnsemblClinVar.1
Natural variantiVAR_005646292L → P in TSC2. Corresponds to variant dbSNP:rs45517138EnsemblClinVar.1
Natural variantiVAR_009422294G → E in TSC2. Corresponds to variant dbSNP:rs45487497EnsemblClinVar.1
Natural variantiVAR_009423304W → WGMALW in TSC2. 1
Natural variantiVAR_008021331N → K in TSC2. Corresponds to variant dbSNP:rs45517153EnsemblClinVar.1
Natural variantiVAR_009426361L → P in TSC2. Corresponds to variant dbSNP:rs45517147EnsemblClinVar.1
Natural variantiVAR_009427365Missing in TSC2. 1
Natural variantiVAR_005647407Y → D in TSC2. Corresponds to variant dbSNP:rs45517156EnsemblClinVar.1
Natural variantiVAR_005648449M → I in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45443091EnsemblClinVar.1
Natural variantiVAR_008022486N → I in TSC2. Corresponds to variant dbSNP:rs45486599EnsemblClinVar.1
Natural variantiVAR_009432525N → S in TSC2. Corresponds to variant dbSNP:rs45457694EnsemblClinVar.1
Natural variantiVAR_009435599K → M in TSC2; impairs repression of EIF4EBP1 phosphorylation. 1 PublicationCorresponds to variant dbSNP:rs45517202EnsemblClinVar.1
Natural variantiVAR_005650611R → Q in TSC2 and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420; enhances ubiquitination by MYCBP2. 5 PublicationsCorresponds to variant dbSNP:rs28934872EnsemblClinVar.1
Natural variantiVAR_005651611R → W in TSC2; impairs phosphorylation at S-1387, S-1418 and S-1420. 4 PublicationsCorresponds to variant dbSNP:rs45469298EnsemblClinVar.1
Natural variantiVAR_009436614A → D in TSC2. Corresponds to variant dbSNP:rs45454398EnsemblClinVar.1
Natural variantiVAR_009437647D → N in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45509392EnsemblClinVar.1
Natural variantiVAR_009438694Missing in TSC2. 1
Natural variantiVAR_009439696C → Y in TSC2. Corresponds to variant dbSNP:rs45486196EnsemblClinVar.1
Natural variantiVAR_009440717L → R in TSC2. 2 PublicationsCorresponds to variant dbSNP:rs45517214EnsemblClinVar.1
Natural variantiVAR_009441769V → E in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45499191EnsemblClinVar.1
Natural variantiVAR_008026816P → L in TSC2. Corresponds to variant dbSNP:rs45517236EnsemblClinVar.1
Natural variantiVAR_005652826L → M in TSC2. Corresponds to variant dbSNP:rs45517238EnsemblClinVar.1
Natural variantiVAR_009442895M → V in TSC2. Corresponds to variant dbSNP:rs45470695EnsemblClinVar.1
Natural variantiVAR_005653905R → Q in TSC2. Corresponds to variant dbSNP:rs45517259EnsemblClinVar.1
Natural variantiVAR_005654905R → W in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45517258EnsemblClinVar.1
Natural variantiVAR_009443963V → M in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45517275EnsemblClinVar.1
Natural variantiVAR_0229191027L → P in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45438192EnsemblClinVar.1
Natural variantiVAR_0056551084D → E in TSC2. Corresponds to variant dbSNP:rs45517286EnsemblClinVar.1
Natural variantiVAR_0080271144V → M in TSC2. Corresponds to variant dbSNP:rs45517294EnsemblClinVar.1
Natural variantiVAR_0056561200R → W in TSC2. Corresponds to variant dbSNP:rs45438205EnsemblClinVar.1
Natural variantiVAR_0056571227P → L in TSC2. 1 Publication1
Natural variantiVAR_0056581240R → W in TSC2. 1 Publication1
Natural variantiVAR_0056591295D → V in TSC2. 1
Natural variantiVAR_0080281315P → S in TSC2. Corresponds to variant dbSNP:rs397514916EnsemblClinVar.1
Natural variantiVAR_0094451497P → R in TSC2. Corresponds to variant dbSNP:rs45497997EnsemblClinVar.1
Natural variantiVAR_0094461498S → N in TSC2. Corresponds to variant dbSNP:rs137854879EnsemblClinVar.1
Natural variantiVAR_0056601509Missing in TSC2; unknown pathological significance. 2 Publications1
Natural variantiVAR_0056611549Y → C in TSC2. Corresponds to variant dbSNP:rs45517355EnsemblClinVar.1
Natural variantiVAR_0094471594L → M in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45511204EnsemblClinVar.1
Natural variantiVAR_0056621614Missing in TSC2. 1
Natural variantiVAR_0094481620H → Y in TSC2. Corresponds to variant dbSNP:rs45446901EnsemblClinVar.1
Natural variantiVAR_0056631643N → I in TSC2. Corresponds to variant dbSNP:rs45517380EnsemblClinVar.1
Natural variantiVAR_0094491643N → K in TSC2; Abolishes GAP activity. 2 PublicationsCorresponds to variant dbSNP:rs45517381EnsemblClinVar.1
Natural variantiVAR_0056641650Y → C in TSC2. Corresponds to variant dbSNP:rs45501091EnsemblClinVar.1
Natural variantiVAR_0094501651N → S in TSC2; greatly reduces the ability to enhance the RHEB GTPase activity. 4 PublicationsCorresponds to variant dbSNP:rs45517382EnsemblClinVar.1
Natural variantiVAR_0186031653S → F in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45517383EnsemblClinVar.1
Natural variantiVAR_0094511675P → L in TSC2. 3 PublicationsCorresponds to variant dbSNP:rs45483392EnsemblClinVar.1
Natural variantiVAR_0094521681N → K in TSC2; Abolishes GAP activity. 2 PublicationsCorresponds to variant dbSNP:rs45476793EnsemblClinVar.1
Natural variantiVAR_0056651690D → Y in TSC2. Corresponds to variant dbSNP:rs137854882EnsemblClinVar.1
Natural variantiVAR_0094531704S → T in TSC2. Corresponds to variant dbSNP:rs45474691EnsemblClinVar.1
Natural variantiVAR_0080301709P → L in TSC2. Corresponds to variant dbSNP:rs45517393EnsemblClinVar.1
Natural variantiVAR_0056661712A → E in TSC2. 1 Publication1
Natural variantiVAR_0094541743R → P in TSC2; Abolishes GAP activity. 1 PublicationCorresponds to variant dbSNP:rs45507199EnsemblClinVar.1
Natural variantiVAR_0080311743R → Q in TSC2. Corresponds to variant dbSNP:rs45507199EnsemblClinVar.1
Natural variantiVAR_0094551744L → P in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45517413EnsemblClinVar.1
Natural variantiVAR_0094561746 – 1751Missing in TSC2. 2 Publications6
Natural variantiVAR_0056671750L → F in TSC2. Corresponds to variant dbSNP:rs45459299EnsemblClinVar.1
Natural variantiVAR_0080321773H → P in TSC2. Corresponds to variant dbSNP:rs45517418EnsemblClinVar.1
Natural variantiVAR_0080331783E → Q in TSC2. Corresponds to variant dbSNP:rs777166275Ensembl.1
Lymphangioleiomyomatosis (LAM)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionProgressive 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005650611R → Q in TSC2 and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420; enhances ubiquitination by MYCBP2. 5 PublicationsCorresponds to variant dbSNP:rs28934872EnsemblClinVar.1
Focal cortical dysplasia 2 (FCORD2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0788471547V → I in FCORD2; somatic mutation; decreased function in negative regulation of TOR signaling; does not affect interaction with TSC1. 1 PublicationCorresponds to variant dbSNP:rs745895675EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi939S → A: Inhibits insulin-stimulated phosphorylation and activation of S6K1; when associated with A-1462. 1
Mutagenesisi1271T → A: Abolishes AMPK-mediated phosphorylation; when associated with A-1387. 1 Publication1
Mutagenesisi1387S → A: Abolishes AMPK-mediated phosphorylation; when associated with A-1271. 1 Publication1
Mutagenesisi1462T → A: Inhibits insulin-stimulated phosphorylation and activation of S6K1; when associated with A-939. 1
Mutagenesisi1637 – 1639KKR → QQQ: Abolishes GAP activity. 1 Publication3
Mutagenesisi1745R → Q: Abolishes GAP activity. 1 Publication1
Mutagenesisi1749 – 1751RLR → QLQ: No effect. 1 Publication3

Keywords - Diseasei

Disease variant, Epilepsy, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		7249

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TSC2

MalaCards human disease database

More...MalaCardsi		TSC2
MIMi606690, phenotype
607341, phenotype
613254, phenotype

Open Targets

More...OpenTargetsi		ENSG00000103197

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		210159, Adult hepatocellular carcinoma
88924, Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
269001, Isolated focal cortical dysplasia type IIa
269008, Isolated focal cortical dysplasia type IIb
538, Lymphangioleiomyomatosis
805, Tuberous sclerosis complex

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37035

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P49815, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TSC2

Domain mapping of disease mutations (DMDM)

More...DMDMi		269849475

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000656541 – 1807TuberinAdd BLAST1807

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei540Phosphoserine1 Publication1
Modified residuei664Phosphoserine1 Publication1
Modified residuei927PhosphothreonineCombined sources1
Modified residuei939Phosphoserine; by PKB/AKT12 Publications1
Modified residuei981PhosphoserineCombined sources1
Modified residuei1132PhosphoserineCombined sources1
Modified residuei1155PhosphoserineCombined sources1
Modified residuei1271Phosphothreonine; by AMPK1 Publication1
Modified residuei1337PhosphoserineCombined sources1
Modified residuei1338PhosphoserineCombined sources1
Modified residuei1346PhosphoserineCombined sources1
Modified residuei1364PhosphoserineCombined sources1
Modified residuei1387Phosphoserine; by AMPKCombined sources2 Publications1
Modified residuei1411PhosphoserineCombined sources1
Modified residuei1418Phosphoserine1 Publication1
Modified residuei1420PhosphoserineCombined sources1 Publication1
Modified residuei1452PhosphoserineCombined sources1
Modified residuei1462Phosphothreonine; by PKB/AKT1Combined sources2 Publications1
Modified residuei1764PhosphoserineBy similarity1
Modified residuei1798Phosphoserine; by RPS6KA1Combined sources2 Publications1
Modified residuei1799PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1. Phosphorylation at Ser-939 and Thr-1462 by PKB/AKT1 is induced by growth factor stimulation. Phosphorylation by AMPK activates it and leads to negative regulation of the mTORC1 complex. Phosphorylated at Ser-1798 by RPS6KA1; phosphorylation inhibits TSC2 ability to suppress mTORC1 signaling. Phosphorylated by DAPK1.4 Publications
Ubiquitinated by the DCX(FBXW5) E3 ubiquitin-protein ligase complex, leading to its subsequent degradation. Ubiquitinated by MYCBP2 independently of its phosphorylation status leading to subsequent degradation; association with TSC1 protects from ubiquitination.3 Publications

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P49815

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P49815

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P49815

MaxQB - The MaxQuant DataBase

More...MaxQBi		P49815

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P49815

PeptideAtlas

More...PeptideAtlasi		P49815

PRoteomics IDEntifications database

More...PRIDEi		P49815

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4311
56142 [P49815-1]
56143 [P49815-2]
56144 [P49815-3]
56145 [P49815-4]
56146 [P49815-5]
56147 [P49815-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P49815

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P49815

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P49815

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000103197, Expressed in right hemisphere of cerebellum and 223 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P49815, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P49815, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000103197, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones STIP1/HOP, CDC37, PPP5C, PTGES3/p23, TSC1 and client protein TSC2 (PubMed:29127155). Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones CDC37, PPP5C, TSC1 and client protein TSC2, CDK4, AKT, RAF1 and NR3C1; this complex does not contain co-chaperones STIP1/HOP and PTGES3/p23 (PubMed:29127155).

Forms a complex containing HSP90AA1, TSC1 and TSC2; TSC1 is required to recruit TCS2 to the complex thereby stabilizing TSC2 (PubMed:29127155).

Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction with HERC1 (PubMed:9580671, PubMed:10585443, PubMed:15963462, PubMed:16464865). May also interact with the adapter molecule RABEP1 (PubMed:9045618). The final complex may contain TSC2 and RABEP1 linked to RAB5 (PubMed:9045618).

Interacts with HSPA1 and HSPA8 (PubMed:15963462).

Interacts with DAPK1 (PubMed:18974095).

Interacts with FBXW5 (PubMed:18381890).

Interacts with NAA10 (via C-terminal domain) (PubMed:20145209).

Interacts with RRAGA (polyubiquitinated) (PubMed:25936802).

Interacts with WDR45B (PubMed:28561066).

Interacts with RPAP3 and URI1 (PubMed:28561026).

Interacts with YWHAG (PubMed:33473107).

14 Publications

(Microbial infection) Interacts with human cytomegalovirus protein UL38; this interaction inhibits cellular stress response mediated by mTORC1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113100, 173 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6142, TSC1-TSC2 complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P49815

Protein interaction database and analysis system

More...IntActi		P49815, 52 interactors

Molecular INTeraction database

More...MINTi		P49815

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000219476

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P49815, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P49815

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P49815

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1531 – 1758Rap-GAPPROSITE-ProRule annotationAdd BLAST228

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 400Required for interaction with TSC1Add BLAST400
Regioni655 – 676DisorderedSequence analysisAdd BLAST22
Regioni930 – 964DisorderedSequence analysisAdd BLAST35
Regioni1083 – 1132DisorderedSequence analysisAdd BLAST50
Regioni1150 – 1174DisorderedSequence analysisAdd BLAST25
Regioni1331 – 1352DisorderedSequence analysisAdd BLAST22
Regioni1364 – 1488DisorderedSequence analysisAdd BLAST125
Regioni1765 – 1793DisorderedSequence analysisAdd BLAST29

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1083 – 1102Polar residuesSequence analysisAdd BLAST20
Compositional biasi1370 – 1394Polar residuesSequence analysisAdd BLAST25
Compositional biasi1469 – 1484Basic and acidic residuesSequence analysisAdd BLAST16

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3687, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183139

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001122_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P49815

Identification of Orthologs from Complete Genome Data

More...OMAi		CDIMSAI

Database of Orthologous Groups

More...OrthoDBi		341431at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P49815

TreeFam database of animal gene trees

More...TreeFami		TF324484

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 1 hit
3.40.50.11210, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR035974, Rap/Ran-GAP_sf
IPR000331, Rap/Ran_GAP_dom
IPR003913, Tuberin
IPR018515, Tuberin-type_domain
IPR027107, Tuberin/Ral-act_asu
IPR024584, Tuberin_N

The PANTHER Classification System

More...PANTHERi		PTHR10063, PTHR10063, 3 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF11864, DUF3384, 1 hit
PF02145, Rap_GAP, 1 hit
PF03542, Tuberin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01431, TUBERIN

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF111347, SSF111347, 1 hit
SSF48371, SSF48371, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50085, RAPGAP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 23 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49815-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM 
        60         70         80         90        100
ECGLNNRIRM IGQICEVAKT KKFEEHAVEA LWKAVADLLQ PERPLEARHA 
       110        120        130        140        150
VLALLKAIVQ GQGERLGVLR ALFFKVIKDY PSNEDLHERL EVFKALTDNG 
       160        170        180        190        200
RHITYLEEEL ADFVLQWMDV GLSSEFLLVL VNLVKFNSCY LDEYIARMVQ 
       210        220        230        240        250
MICLLCVRTA SSVDIEVSLQ VLDAVVCYNC LPAESLPLFI VTLCRTINVK 
       260        270        280        290        300
ELCEPCWKLM RNLLGTHLGH SAIYNMCHLM EDRAYMEDAP LLRGAVFFVG 
       310        320        330        340        350
MALWGAHRLY SLRNSPTSVL PSFYQAMACP NEVVSYEIVL SITRLIKKYR 
       360        370        380        390        400
KELQVVAWDI LLNIIERLLQ QLQTLDSPEL RTIVHDLLTT VEELCDQNEF 
       410        420        430        440        450
HGSQERYFEL VERCADQRPE SSLLNLISYR AQSIHPAKDG WIQNLQALME 
       460        470        480        490        500
RFFRSESRGA VRIKVLDVLS FVLLINRQFY EEELINSVVI SQLSHIPEDK 
       510        520        530        540        550
DHQVRKLATQ LLVDLAEGCH THHFNSLLDI IEKVMARSLS PPPELEERDV 
       560        570        580        590        600
AAYSASLEDV KTAVLGLLVI LQTKLYTLPA SHATRVYEML VSHIQLHYKH 
       610        620        630        640        650
SYTLPIASSI RLQAFDFLLL LRADSLHRLG LPNKDGVVRF SPYCVCDYME 
       660        670        680        690        700
PERGSEKKTS GPLSPPTGPP GPAPAGPAVR LGSVPYSLLF RVLLQCLKQE 
       710        720        730        740        750
SDWKVLKLVL GRLPESLRYK VLIFTSPCSV DQLCSALCSM LSGPKTLERL 
       760        770        780        790        800
RGAPEGFSRT DLHLAVVPVL TALISYHNYL DKTKQREMVY CLEQGLIHRC 
       810        820        830        840        850
ASQCVVALSI CSVEMPDIII KALPVLVVKL THISATASMA VPLLEFLSTL 
       860        870        880        890        900
ARLPHLYRNF AAEQYASVFA ISLPYTNPSK FNQYIVCLAH HVIAMWFIRC 
       910        920        930        940        950
RLPFRKDFVP FITKGLRSNV LLSFDDTPEK DSFRARSTSL NERPKSLRIA 
       960        970        980        990       1000
RPPKQGLNNS PPVKEFKESS AAEAFRCRSI SVSEHVVRSR IQTSLTSASL 
      1010       1020       1030       1040       1050
GSADENSVAQ ADDSLKNLHL ELTETCLDMM ARYVFSNFTA VPKRSPVGEF 
      1060       1070       1080       1090       1100
LLAGGRTKTW LVGNKLVTVT TSVGTGTRSL LGLDSGELQS GPESSSSPGV 
      1110       1120       1130       1140       1150
HVRQTKEAPA KLESQAGQQV SRGARDRVRS MSGGHGLRVG ALDVPASQFL 
      1160       1170       1180       1190       1200
GSATSPGPRT APAAKPEKAS AGTRVPVQEK TNLAAYVPLL TQGWAEILVR 
      1210       1220       1230       1240       1250
RPTGNTSWLM SLENPLSPFS SDINNMPLQE LSNALMAAER FKEHRDTALY 
      1260       1270       1280       1290       1300
KSLSVPAAST AKPPPLPRSN TVASFSSLYQ SSCQGQLHRS VSWADSAVVM 
      1310       1320       1330       1340       1350
EEGSPGEVPV LVEPPGLEDV EAALGMDRRT DAYSRSSSVS SQEEKSLHAE 
      1360       1370       1380       1390       1400
ELVGRGIPIE RVVSSEGGRP SVDLSFQPSQ PLSKSSSSPE LQTLQDILGD 
      1410       1420       1430       1440       1450
PGDKADVGRL SPEVKARSQS GTLDGESAAW SASGEDSRGQ PEGPLPSSSP 
      1460       1470       1480       1490       1500
RSPSGLRPRG YTISDSAPSR RGKRVERDAL KSRATASNAE KVPGINPSFV 
      1510       1520       1530       1540       1550
FLQLYHSPFF GDESNKPILL PNESQSFERS VQLLDQIPSY DTHKIAVLYV 
      1560       1570       1580       1590       1600
GEGQSNSELA ILSNEHGSYR YTEFLTGLGR LIELKDCQPD KVYLGGLDVC 
      1610       1620       1630       1640       1650
GEDGQFTYCW HDDIMQAVFH IATLMPTKDV DKHRCDKKRH LGNDFVSIVY 
      1660       1670       1680       1690       1700
NDSGEDFKLG TIKGQFNFVH VIVTPLDYEC NLVSLQCRKD MEGLVDTSVA 
      1710       1720       1730       1740       1750
KIVSDRNLPF VARQMALHAN MASQVHHSRS NPTDIYPSKW IARLRHIKRL 
      1760       1770       1780       1790       1800
RQRICEEAAY SNPSLPLVHP PSHSKAPAQT PAEPTPGYEV GQRKRLISSV 

EDFTEFV
Length:1,807
Mass (Da):200,608
Last modified:November 24, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7B915C46970D7D31
GO
Isoform 2 (identifier: P49815-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     946-988: Missing.

Show »
Length:1,764
Mass (Da):195,847
Checksum:iEECB8D3132AFFBA2
GO
Isoform 3 (identifier: P49815-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     946-989: Missing.

Show »
Length:1,763
Mass (Da):195,760
Checksum:i9EBB34789D67D71C
GO
Isoform 4 (identifier: P49815-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1272-1294: Missing.

Show »
Length:1,784
Mass (Da):198,097
Checksum:i36A09DD2BBCD369A
GO
Isoform 5 (identifier: P49815-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     946-989: Missing.
     1272-1294: Missing.

Show »
Length:1,740
Mass (Da):193,249
Checksum:iA0886EF0FBE7652E
GO
Isoform 6 (identifier: P49815-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     76-112: Missing.
     946-988: Missing.
     1272-1294: Missing.

Show »
Length:1,704
Mass (Da):189,298
Checksum:iAD89389C5CDB4B2C
GO
Isoform 7 (identifier: P49815-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.
     946-988: Missing.
     1272-1294: Missing.

Show »
Length:1,692
Mass (Da):187,956
Checksum:i2EBACFD19189839B
GO
Isoform 8 (identifier: P49815-8) [UniParc]FASTAAdd to basket
Also known as: H, I

The sequence of this isoform differs from the canonical sequence as follows:
     113-239: GERLGVLRAL...CLPAESLPLF → VRPRATLGWV...SLHSICAGLG
     240-1807: Missing.

Note: May be due to an intron retention.Curated
Show »
Length:239
Mass (Da):25,773
Checksum:i66E9726DB8FC2B57
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 23 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BMQ0H3BMQ0_HUMAN
Tuberin
TSC2
1,751Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X5D2U8X5D2U8_HUMAN
Tuberin
TSC2
1,741Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5F1A0A2R8Y5F1_HUMAN
Tuberin
TSC2
1,738Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7C8A0A2R8Y7C8_HUMAN
Tuberin
TSC2
1,782Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7X5A0A2R8Y7X5_HUMAN
Tuberin
TSC2
1,769Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDZ2A0A2R8YDZ2_HUMAN
Tuberin
TSC2
1,760Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGD6A0A2R8YGD6_HUMAN
Tuberin
TSC2
1,805Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGU4A0A2R8YGU4_HUMAN
Tuberin
TSC2
1,739Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6C9A0A2R8Y6C9_HUMAN
Tuberin
TSC2
1,359Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDR3A0A2R8YDR3_HUMAN
Tuberin
TSC2
1,781Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAE06082 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti187N → S in BAG61344 (Ref. 7) Curated1
Sequence conflicti210A → V in AAI50301 (PubMed:15489334).Curated1
Sequence conflicti335S → P in BAG61344 (Ref. 7) Curated1
Sequence conflicti392E → V in BAG58569 (Ref. 7) Curated1
Sequence conflicti422S → P in BAG58569 (Ref. 7) Curated1
Sequence conflicti660S → N in BAG61344 (Ref. 7) Curated1
Sequence conflicti704K → E in AAI50301 (PubMed:15489334).Curated1
Sequence conflicti706L → P in BAG58569 (Ref. 7) Curated1
Sequence conflicti1015L → M in AAI50301 (PubMed:15489334).Curated1
Sequence conflicti1239E → V in BAG61344 (Ref. 7) Curated1
Sequence conflicti1398L → V in BAG61344 (Ref. 7) Curated1
Sequence conflicti1672I → M in AAI50301 (PubMed:15489334).Curated1
Sequence conflicti1807V → A in BAG61344 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00801994P → T1 PublicationCorresponds to variant dbSNP:rs1051616EnsemblClinVar.1
Natural variantiVAR_009415137H → R in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45517107EnsemblClinVar.1
Natural variantiVAR_009416160L → V. Corresponds to variant dbSNP:rs45517109EnsemblClinVar.1
Natural variantiVAR_008020227C → Y in TSC2. Corresponds to variant dbSNP:rs45517122EnsemblClinVar.1
Natural variantiVAR_009417258K → N in TSC2. Corresponds to variant dbSNP:rs137854875EnsemblClinVar.1
Natural variantiVAR_009418261R → P in TSC2. Corresponds to variant dbSNP:rs45502703EnsemblClinVar.1
Natural variantiVAR_009419261R → W. Corresponds to variant dbSNP:rs45517130EnsemblClinVar.1
Natural variantiVAR_009420286M → T. Corresponds to variant dbSNP:rs45517136EnsemblClinVar.1
Natural variantiVAR_009421286M → V. Corresponds to variant dbSNP:rs1800748EnsemblClinVar.1
Natural variantiVAR_005646292L → P in TSC2. Corresponds to variant dbSNP:rs45517138EnsemblClinVar.1
Natural variantiVAR_009422294G → E in TSC2. Corresponds to variant dbSNP:rs45487497EnsemblClinVar.1
Natural variantiVAR_009423304W → WGMALW in TSC2. 1
Natural variantiVAR_009424309L → Q. Corresponds to variant dbSNP:rs137853986EnsemblClinVar.1
Natural variantiVAR_009425320L → F Could be associated with TSC2. 3 PublicationsCorresponds to variant dbSNP:rs1131825EnsemblClinVar.1
Natural variantiVAR_008021331N → K in TSC2. Corresponds to variant dbSNP:rs45517153EnsemblClinVar.1
Natural variantiVAR_009426361L → P in TSC2. Corresponds to variant dbSNP:rs45517147EnsemblClinVar.1
Natural variantiVAR_009427365Missing in TSC2. 1
Natural variantiVAR_009428367R → Q1 PublicationCorresponds to variant dbSNP:rs1800725EnsemblClinVar.1
Natural variantiVAR_009429378P → L. Corresponds to variant dbSNP:rs45517154EnsemblClinVar.1
Natural variantiVAR_005647407Y → D in TSC2. Corresponds to variant dbSNP:rs45517156EnsemblClinVar.1
Natural variantiVAR_009430440G → S. Corresponds to variant dbSNP:rs45484298EnsemblClinVar.1
Natural variantiVAR_005648449M → I in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45443091EnsemblClinVar.1
Natural variantiVAR_009431463I → V. Corresponds to variant dbSNP:rs45517171EnsemblClinVar.1
Natural variantiVAR_008022486N → I in TSC2. Corresponds to variant dbSNP:rs45486599EnsemblClinVar.1
Natural variantiVAR_008023490I → V. Corresponds to variant dbSNP:rs45517175EnsemblClinVar.1
Natural variantiVAR_009432525N → S in TSC2. Corresponds to variant dbSNP:rs45457694EnsemblClinVar.1
Natural variantiVAR_008024536A → V. Corresponds to variant dbSNP:rs45517187EnsemblClinVar.1
Natural variantiVAR_009433583A → T. Corresponds to variant dbSNP:rs1800729EnsemblClinVar.1
Natural variantiVAR_009434593H → R. Corresponds to variant dbSNP:rs45517198EnsemblClinVar.1
Natural variantiVAR_009435599K → M in TSC2; impairs repression of EIF4EBP1 phosphorylation. 1 PublicationCorresponds to variant dbSNP:rs45517202EnsemblClinVar.1
Natural variantiVAR_005649607A → T1 PublicationCorresponds to variant dbSNP:rs45517203EnsemblClinVar.1
Natural variantiVAR_005650611R → Q in TSC2 and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420; enhances ubiquitination by MYCBP2. 5 PublicationsCorresponds to variant dbSNP:rs28934872EnsemblClinVar.1
Natural variantiVAR_005651611R → W in TSC2; impairs phosphorylation at S-1387, S-1418 and S-1420. 4 PublicationsCorresponds to variant dbSNP:rs45469298EnsemblClinVar.1
Natural variantiVAR_009436614A → D in TSC2. Corresponds to variant dbSNP:rs45454398EnsemblClinVar.1
Natural variantiVAR_008025615F → S. Corresponds to variant dbSNP:rs45481105EnsemblClinVar.1
Natural variantiVAR_060584619L → F1 PublicationCorresponds to variant dbSNP:rs1131826Ensembl.1
Natural variantiVAR_009437647D → N in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45509392EnsemblClinVar.1
Natural variantiVAR_009438694Missing in TSC2. 1
Natural variantiVAR_009439696C → Y in TSC2. Corresponds to variant dbSNP:rs45486196EnsemblClinVar.1
Natural variantiVAR_009440717L → R in TSC2. 2 PublicationsCorresponds to variant dbSNP:rs45517214EnsemblClinVar.1
Natural variantiVAR_009441769V → E in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45499191EnsemblClinVar.1
Natural variantiVAR_060585802S → R2 PublicationsCorresponds to variant dbSNP:rs1051621Ensembl.1
Natural variantiVAR_008026816P → L in TSC2. Corresponds to variant dbSNP:rs45517236EnsemblClinVar.1
Natural variantiVAR_005652826L → M in TSC2. Corresponds to variant dbSNP:rs45517238EnsemblClinVar.1
Natural variantiVAR_018600862A → V1 PublicationCorresponds to variant dbSNP:rs45517249EnsemblClinVar.1
Natural variantiVAR_009442895M → V in TSC2. Corresponds to variant dbSNP:rs45470695EnsemblClinVar.1
Natural variantiVAR_005653905R → Q in TSC2. Corresponds to variant dbSNP:rs45517259EnsemblClinVar.1
Natural variantiVAR_005654905R → W in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45517258EnsemblClinVar.1
Natural variantiVAR_009443963V → M in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45517275EnsemblClinVar.1
Natural variantiVAR_0229191027L → P in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45438192EnsemblClinVar.1
Natural variantiVAR_0056551084D → E in TSC2. Corresponds to variant dbSNP:rs45517286EnsemblClinVar.1
Natural variantiVAR_0570141141A → V. Corresponds to variant dbSNP:rs34870424EnsemblClinVar.1
Natural variantiVAR_0080271144V → M in TSC2. Corresponds to variant dbSNP:rs45517294EnsemblClinVar.1
Natural variantiVAR_0056561200R → W in TSC2. Corresponds to variant dbSNP:rs45438205EnsemblClinVar.1
Natural variantiVAR_0056571227P → L in TSC2. 1 Publication1
Natural variantiVAR_0056581240R → W in TSC2. 1 Publication1
Natural variantiVAR_0094441282S → G. Corresponds to variant dbSNP:rs45446700EnsemblClinVar.1
Natural variantiVAR_0056591295D → V in TSC2. 1
Natural variantiVAR_0080281315P → S in TSC2. Corresponds to variant dbSNP:rs397514916EnsemblClinVar.1
Natural variantiVAR_0080291329R → H. Corresponds to variant dbSNP:rs45517323EnsemblClinVar.1
Natural variantiVAR_0229201341S → R1 PublicationCorresponds to variant dbSNP:rs45462593EnsemblClinVar.1
Natural variantiVAR_0186011429A → S1 PublicationCorresponds to variant dbSNP:rs45474795EnsemblClinVar.1
Natural variantiVAR_0186021450P → R1 PublicationCorresponds to variant dbSNP:rs45517338EnsemblClinVar.1
Natural variantiVAR_0094451497P → R in TSC2. Corresponds to variant dbSNP:rs45497997EnsemblClinVar.1
Natural variantiVAR_0094461498S → N in TSC2. Corresponds to variant dbSNP:rs137854879EnsemblClinVar.1
Natural variantiVAR_0056601509Missing in TSC2; unknown pathological significance. 2 Publications1
Natural variantiVAR_0788471547V → I in FCORD2; somatic mutation; decreased function in negative regulation of TOR signaling; does not affect interaction with TSC1. 1 PublicationCorresponds to variant dbSNP:rs745895675EnsemblClinVar.1
Natural variantiVAR_0056611549Y → C in TSC2. Corresponds to variant dbSNP:rs45517355EnsemblClinVar.1
Natural variantiVAR_0094471594L → M in TSC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs45511204EnsemblClinVar.1
Natural variantiVAR_0056621614Missing in TSC2. 1
Natural variantiVAR_0094481620H → Y in TSC2. Corresponds to variant dbSNP:rs45446901EnsemblClinVar.1
Natural variantiVAR_0229211636D → N1 PublicationCorresponds to variant dbSNP:rs45482398EnsemblClinVar.1
Natural variantiVAR_0056631643N → I in TSC2. Corresponds to variant dbSNP:rs45517380EnsemblClinVar.1
Natural variantiVAR_0094491643N → K in TSC2; Abolishes GAP activity. 2 PublicationsCorresponds to variant dbSNP:rs45517381EnsemblClinVar.1
Natural variantiVAR_0056641650Y → C in TSC2. Corresponds to variant dbSNP:rs45501091EnsemblClinVar.1
Natural variantiVAR_0094501651N → S in TSC2; greatly reduces the ability to enhance the RHEB GTPase activity. 4 PublicationsCorresponds to variant dbSNP:rs45517382EnsemblClinVar.1
Natural variantiVAR_0186031653S → F in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45517383EnsemblClinVar.1
Natural variantiVAR_0229221673V → L1 PublicationCorresponds to variant dbSNP:rs45490993EnsemblClinVar.1
Natural variantiVAR_0094511675P → L in TSC2. 3 PublicationsCorresponds to variant dbSNP:rs45483392EnsemblClinVar.1
Natural variantiVAR_0094521681N → K in TSC2; Abolishes GAP activity. 2 PublicationsCorresponds to variant dbSNP:rs45476793EnsemblClinVar.1
Natural variantiVAR_0056651690D → Y in TSC2. Corresponds to variant dbSNP:rs137854882EnsemblClinVar.1
Natural variantiVAR_0094531704S → T in TSC2. Corresponds to variant dbSNP:rs45474691EnsemblClinVar.1
Natural variantiVAR_0080301709P → L in TSC2. Corresponds to variant dbSNP:rs45517393EnsemblClinVar.1
Natural variantiVAR_0056661712A → E in TSC2. 1 Publication1
Natural variantiVAR_0094541743R → P in TSC2; Abolishes GAP activity. 1 PublicationCorresponds to variant dbSNP:rs45507199EnsemblClinVar.1
Natural variantiVAR_0080311743R → Q in TSC2. Corresponds to variant dbSNP:rs45507199EnsemblClinVar.1
Natural variantiVAR_0094551744L → P in TSC2. 1 PublicationCorresponds to variant dbSNP:rs45517413EnsemblClinVar.1
Natural variantiVAR_0094561746 – 1751Missing in TSC2. 2 Publications6
Natural variantiVAR_0056671750L → F in TSC2. Corresponds to variant dbSNP:rs45459299EnsemblClinVar.1
Natural variantiVAR_0080321773H → P in TSC2. Corresponds to variant dbSNP:rs45517418EnsemblClinVar.1
Natural variantiVAR_0570151774S → T. Corresponds to variant dbSNP:rs9209EnsemblClinVar.1
Natural variantiVAR_0080331783E → Q in TSC2. Corresponds to variant dbSNP:rs777166275Ensembl.1
Natural variantiVAR_0094571787G → S. Corresponds to variant dbSNP:rs45517419EnsemblClinVar.1
Natural variantiVAR_0094581791G → S. Corresponds to variant dbSNP:rs45517421EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0541631 – 49Missing in isoform 7. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_03835576 – 112Missing in isoform 6. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_055896113 – 239GERLG…SLPLF → VRPRATLGWVTSGCPLTVLS LLGRVWTPASVSCWAQGLGA DGLWSWMACGVSWCHEVCVT VGTASSPVNRWSLHLPLMGC SGDHMRQFSQSAEIVPGSWC GATVLFCPCTLSGPLPCSLH SICAGLG in isoform 8. 2 PublicationsAdd BLAST127
Alternative sequenceiVSP_055897240 – 1807Missing in isoform 8. 2 PublicationsAdd BLAST1568
Alternative sequenceiVSP_004471946 – 989Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST44
Alternative sequenceiVSP_004470946 – 988Missing in isoform 2, isoform 6 and isoform 7. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0044721272 – 1294Missing in isoform 4, isoform 5, isoform 6 and isoform 7. 3 PublicationsAdd BLAST23

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X75621 mRNA Translation: CAA53287.1
L48546 L48545 Genomic DNA Translation: AAB41564.1
KJ535038 mRNA Translation: AHW56677.1
KJ535051 mRNA Translation: AHW56690.1
AK294548 mRNA Translation: BAH11804.1
AK295672 mRNA Translation: BAG58530.1
AK295728 mRNA Translation: BAG58569.1
AK299343 mRNA Translation: BAG61344.1
AB210000 mRNA Translation: BAE06082.1 Different initiation.
AC005600 Genomic DNA Translation: AAC34210.1
AC093513 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85556.1
BC150300 mRNA Translation: AAI50301.1
BC025364 mRNA Translation: AAH25364.1
BC046929 mRNA Translation: AAH46929.1
AB014460 Genomic DNA Translation: BAA32694.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10458.1 [P49815-1]
CCDS10459.1 [P49815-2]
CCDS45384.1 [P49815-4]
CCDS58408.1 [P49815-5]
CCDS81933.1 [P49815-6]
CCDS81934.1 [P49815-7]

Protein sequence database of the Protein Information Resource

More...PIRi		A49420

NCBI Reference Sequences

More...RefSeqi		NP_000539.2, NM_000548.4 [P49815-1]
NP_001070651.1, NM_001077183.2 [P49815-5]
NP_001107854.1, NM_001114382.2 [P49815-4]
NP_001305756.1, NM_001318827.1 [P49815-6]
NP_001305758.1, NM_001318829.1 [P49815-7]
NP_001305760.1, NM_001318831.1
NP_001305761.1, NM_001318832.1
XP_005255586.2, XM_005255529.4
XP_016879105.1, XM_017023616.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000219476.9; ENSP00000219476.3; ENSG00000103197.18
ENST00000350773.9; ENSP00000344383.4; ENSG00000103197.18 [P49815-4]
ENST00000382538.10; ENSP00000371978.6; ENSG00000103197.18 [P49815-7]
ENST00000401874.7; ENSP00000384468.2; ENSG00000103197.18 [P49815-5]
ENST00000439673.6; ENSP00000399232.2; ENSG00000103197.18 [P49815-6]
ENST00000642936.1; ENSP00000494514.1; ENSG00000103197.18 [P49815-3]
ENST00000644043.1; ENSP00000496262.1; ENSG00000103197.18 [P49815-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7249

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7249

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000219476.9; ENSP00000219476.3; NM_000548.5; NP_000539.2

UCSC genome browser

More...UCSCi		uc002con.4, human [P49815-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Tuberous sclerosis database Tuberous sclerosis 2 (TSC2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X75621 mRNA Translation: CAA53287.1
L48546 L48545 Genomic DNA Translation: AAB41564.1
KJ535038 mRNA Translation: AHW56677.1
KJ535051 mRNA Translation: AHW56690.1
AK294548 mRNA Translation: BAH11804.1
AK295672 mRNA Translation: BAG58530.1
AK295728 mRNA Translation: BAG58569.1
AK299343 mRNA Translation: BAG61344.1
AB210000 mRNA Translation: BAE06082.1 Different initiation.
AC005600 Genomic DNA Translation: AAC34210.1
AC093513 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85556.1
BC150300 mRNA Translation: AAI50301.1
BC025364 mRNA Translation: AAH25364.1
BC046929 mRNA Translation: AAH46929.1
AB014460 Genomic DNA Translation: BAA32694.1
CCDSiCCDS10458.1 [P49815-1]
CCDS10459.1 [P49815-2]
CCDS45384.1 [P49815-4]
CCDS58408.1 [P49815-5]
CCDS81933.1 [P49815-6]
CCDS81934.1 [P49815-7]
PIRiA49420
RefSeqiNP_000539.2, NM_000548.4 [P49815-1]
NP_001070651.1, NM_001077183.2 [P49815-5]
NP_001107854.1, NM_001114382.2 [P49815-4]
NP_001305756.1, NM_001318827.1 [P49815-6]
NP_001305758.1, NM_001318829.1 [P49815-7]
NP_001305760.1, NM_001318831.1
NP_001305761.1, NM_001318832.1
XP_005255586.2, XM_005255529.4
XP_016879105.1, XM_017023616.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
7DL2electron microscopy4.40A/B50-1807[»]
AlphaFoldDBiP49815
SMRiP49815
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113100, 173 interactors
ComplexPortaliCPX-6142, TSC1-TSC2 complex
CORUMiP49815
IntActiP49815, 52 interactors
MINTiP49815
STRINGi9606.ENSP00000219476

PTM databases

iPTMnetiP49815
PhosphoSitePlusiP49815
SwissPalmiP49815

Genetic variation databases

BioMutaiTSC2
DMDMi269849475

Proteomic databases

EPDiP49815
jPOSTiP49815
MassIVEiP49815
MaxQBiP49815
PaxDbiP49815
PeptideAtlasiP49815
PRIDEiP49815
ProteomicsDBi4311
56142 [P49815-1]
56143 [P49815-2]
56144 [P49815-3]
56145 [P49815-4]
56146 [P49815-5]
56147 [P49815-6]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P49815, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3702, 2059 antibodies from 45 providers

The DNASU plasmid repository

More...DNASUi		7249

Genome annotation databases

EnsembliENST00000219476.9; ENSP00000219476.3; ENSG00000103197.18
ENST00000350773.9; ENSP00000344383.4; ENSG00000103197.18 [P49815-4]
ENST00000382538.10; ENSP00000371978.6; ENSG00000103197.18 [P49815-7]
ENST00000401874.7; ENSP00000384468.2; ENSG00000103197.18 [P49815-5]
ENST00000439673.6; ENSP00000399232.2; ENSG00000103197.18 [P49815-6]
ENST00000642936.1; ENSP00000494514.1; ENSG00000103197.18 [P49815-3]
ENST00000644043.1; ENSP00000496262.1; ENSG00000103197.18 [P49815-2]
GeneIDi7249
KEGGihsa:7249
MANE-SelectiENST00000219476.9; ENSP00000219476.3; NM_000548.5; NP_000539.2
UCSCiuc002con.4, human [P49815-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7249
DisGeNETi7249

GeneCards: human genes, protein and diseases

More...GeneCardsi		TSC2
GeneReviewsiTSC2
HGNCiHGNC:12363, TSC2
HPAiENSG00000103197, Low tissue specificity
MalaCardsiTSC2
MIMi191092, gene
606690, phenotype
607341, phenotype
613254, phenotype
neXtProtiNX_P49815
OpenTargetsiENSG00000103197
Orphaneti210159, Adult hepatocellular carcinoma
88924, Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
269001, Isolated focal cortical dysplasia type IIa
269008, Isolated focal cortical dysplasia type IIb
538, Lymphangioleiomyomatosis
805, Tuberous sclerosis complex
PharmGKBiPA37035
VEuPathDBiHostDB:ENSG00000103197

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3687, Eukaryota
GeneTreeiENSGT00950000183139
HOGENOMiCLU_001122_0_0_1
InParanoidiP49815
OMAiCDIMSAI
OrthoDBi341431at2759
PhylomeDBiP49815
TreeFamiTF324484

Enzyme and pathway databases

PathwayCommonsiP49815
ReactomeiR-HSA-1632852, Macroautophagy
R-HSA-165181, Inhibition of TSC complex formation by PKB
R-HSA-198323, AKT phosphorylates targets in the cytosol
R-HSA-380972, Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-5674400, Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-8854214, TBC/RABGAPs
SABIO-RKiP49815
SignaLinkiP49815
SIGNORiP49815

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7249, 142 hits in 1104 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TSC2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TSC2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7249
PharosiP49815, Tbio

Protein Ontology

More...PROi		PR:P49815
RNActiP49815, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000103197, Expressed in right hemisphere of cerebellum and 223 other tissues
ExpressionAtlasiP49815, baseline and differential
GenevisibleiP49815, HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
3.40.50.11210, 1 hit
InterProiView protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR035974, Rap/Ran-GAP_sf
IPR000331, Rap/Ran_GAP_dom
IPR003913, Tuberin
IPR018515, Tuberin-type_domain
IPR027107, Tuberin/Ral-act_asu
IPR024584, Tuberin_N
PANTHERiPTHR10063, PTHR10063, 3 hits
PfamiView protein in Pfam
PF11864, DUF3384, 1 hit
PF02145, Rap_GAP, 1 hit
PF03542, Tuberin, 1 hit
PRINTSiPR01431, TUBERIN
SUPFAMiSSF111347, SSF111347, 1 hit
SSF48371, SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50085, RAPGAP, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTSC2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49815
Secondary accession number(s): A7E2E2
, B4DIL8, B4DIQ7, B4DRN2, B7Z2B8, C9J378, O75275, Q4LE71, Q8TAZ1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 24, 2009
Last modified: May 25, 2022
This is version 229 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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