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    TSC2 TSC complex subunit 2 [ Homo sapiens (human) ]

    Gene ID: 7249, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TSC2provided by HGNC
    Official Full Name
    TSC complex subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:12363
    See related
    Ensembl:ENSG00000103197 MIM:191092; AllianceGenome:HGNC:12363
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LAM; TSC4; PPP1R160
    Summary
    This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]
    Expression
    Ubiquitous expression in testis (RPKM 18.9), thyroid (RPKM 12.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSC2 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2047985..2089491)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2067794..2109598)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2097986..2139492)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2082560-2083144 Neighboring gene NHERF family PDZ scaffold protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2086649-2087231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2097239-2097738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7024 Neighboring gene nth like DNA glycosylase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2119055-2119286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2128423-2129132 Neighboring gene microRNA 1225 Neighboring gene PKD1 antisense RNA 1 Neighboring gene polycystin 1, transient receptor potential channel interacting

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. Tyburczy ME, et al. Hum Mol Genet, 2014 Apr 15. PMID 24271014, Free PMC Article
    2. [Analysis of TSC gene mutation in a patient with tuberous sclerosis]. Zhang Z, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2015 Aug. PMID 26252095
    3. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Kwiatkowski DJ, et al. Eur J Hum Genet, 2015 Dec. PMID 25782670, Free PMC Article
    4. Loss of Tuberous Sclerosis Complex 2 (TSC2) Is Frequent in Hepatocellular Carcinoma and Predicts Response to mTORC1 Inhibitor Everolimus. Huynh H, et al. Mol Cancer Ther, 2015 May. PMID 25724664
    5. A Chinese tuberous sclerosis complex family and a novel tuberous sclerosis complex-2 mutation. Luo R, et al. Chin Med J (Engl), 2015 Jan 5. PMID 25563326, Free PMC Article

    See all (524) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of TSC1 and TSC2 proteins in neuronal axons.
      Title: The role of TSC1 and TSC2 proteins in neuronal axons.
    2. Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.
      Title: Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.
    3. A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.
      Title: A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.
    4. Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma.
      Title: Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma.
    5. CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.
      Title: CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.
    6. Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations.
      Title: Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations.
    7. Non-canonical functions of a mutant TSC2 protein in mitotic division.
      Title: Non-canonical functions of a mutant TSC2 protein in mitotic division.
    8. TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas.
      Title: TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas.
    9. Design of negative-regulating proteins of Rheb/mTORC1 with much-reduced sizes of the tuberous sclerosis protein complex.
      Title: Design of negative-regulating proteins of Rheb/mTORC1 with much-reduced sizes of the tuberous sclerosis protein complex.
    10. Hypoxia-induced tumor exosomes promote angiogenesis through miR-1825/TSC2/mTOR axis in oral squamous cell carcinoma.
      Title: Hypoxia-induced tumor exosomes promote angiogenesis through miR-1825/TSC2/mTOR axis in oral squamous cell carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (347)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TSC2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Isolated focal cortical dysplasia type II
    MedGen: C1846385 OMIM: 607341 GeneReviews: Not available
    		not available
    Lymphangiomyomatosis
    MedGen: C0751674 OMIM: 606690 GeneReviews: Not available
    		not available
    Tuberous sclerosis 2
    MedGen: C1860707 OMIM: 613254 GeneReviews: Tuberous Sclerosis Complex
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-10)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Joint influence of small-effect genetic variants on human longevity.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables Hsp90 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anoikis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in endocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in insulin-like growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of TOR signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TOR signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of TOR signaling IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in negative regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of insulin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of mitophagy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of macroautophagy IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NOT located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TSC1-TSC2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TSC1-TSC2 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TSC1-TSC2 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density EXP
    Inferred from Experiment
    more info
    		 PubMed 
    is_active_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tuberin
    Names
    protein phosphatase 1, regulatory subunit 160
    tuberous sclerosis 2 protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_005895.1 RefSeqGene

      Range
      3684..44407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_487

    mRNA and Protein(s)

    1. NM_000548.5 → NP_000539.2  tuberin isoform 1

      See identical proteins and their annotated locations for NP_000539.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC093513, AK295672, AK299343, CA427637, DC402106, X75621
      Consensus CDS
      CCDS10458.1
      UniProtKB/Swiss-Prot
      A7E2E2, B4DIL8, B4DIQ7, B4DRN2, B7Z2B8, C9J378, O75275, P49815, Q4LE71, Q8TAZ1
      UniProtKB/TrEMBL
      A0A1V1FWL6, A0A1V1FWM5
      Related
      ENSP00000219476.3, ENST00000219476.9
      Conserved Domains (3) summary
      pfam02145
      Location:1562 → 1748
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:54 → 466
      DUF3384; Domain of unknown function (DUF3384)

    2. NM_001077183.3 → NP_001070651.1  tuberin isoform 4

      See identical proteins and their annotated locations for NP_001070651.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in multiple places compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB210000, AC093513, CA427637, DC402106
      Consensus CDS
      CCDS58408.1
      UniProtKB/TrEMBL
      X5D7Q2, X5D9D6
      Related
      ENSP00000384468.2, ENST00000401874.7
      Conserved Domains (3) summary
      pfam02145
      Location:1495 → 1681
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:54 → 466
      DUF3384; Domain of unknown function (DUF3384)

    3. NM_001114382.3 → NP_001107854.1  tuberin isoform 5

      See identical proteins and their annotated locations for NP_001107854.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 5, which is shorter than isoform 1.
      Source sequence(s)
      AC093513, AK295672, BC150300, CA427637, DC402106
      Consensus CDS
      CCDS45384.1
      UniProtKB/TrEMBL
      A0A2R8Y7C8
      Related
      ENSP00000344383.4, ENST00000350773.9
      Conserved Domains (3) summary
      pfam02145
      Location:1539 → 1725
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:54 → 466
      DUF3384; Domain of unknown function (DUF3384)

    4. NM_001318827.2 → NP_001305756.1  tuberin isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks three alternate in-frame exons in the coding region, compared to variant 1. It encodes isoform 6, which lacks three separate internal in-frame segments and is shorter, compared to isoform 1.
      Source sequence(s)
      AC093513, AK295672, AK299343, CA427637, DC402106
      Consensus CDS
      CCDS81933.1
      UniProtKB/TrEMBL
      A0A2R8YGU4, X5D9D6
      Related
      ENSP00000399232.2, ENST00000439673.6
      Conserved Domains (3) summary
      pfam02145
      Location:1459 → 1645
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:518 → 866
      Tuberin; Tuberin
      pfam11864
      Location:77 → 429
      DUF3384; Domain of unknown function (DUF3384)

    5. NM_001318829.2 → NP_001305758.1  tuberin isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, uses a downstream start codon and contains multiple coding region differences, compared to variant 1. It encodes isoform 7, which is shorter than isoform 1.
      Source sequence(s)
      AC093513, AK125096, AK295672, CA427637, DC402106
      Consensus CDS
      CCDS81934.1
      UniProtKB/TrEMBL
      A0A2R8YGU4, X5D9D6
      Related
      ENSP00000371978.6, ENST00000382538.10
      Conserved Domains (3) summary
      pfam02145
      Location:1447 → 1633
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:506 → 854
      Tuberin
      pfam11864
      Location:5 → 370
      DUF3384; Domain of unknown function (DUF3384)

    6. NM_001318831.2 → NP_001305760.1  tuberin isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, uses a downstream start codon and contains multiple coding region differences, compared to variant 1. It encodes isoform 8, which is shorter than isoform 1.
      Source sequence(s)
      AC093513, AK295672, AK299343, BX647816, CA427637, DC402106
      UniProtKB/TrEMBL
      X5D9D6
      Conserved Domains (3) summary
      pfam02145
      Location:1318 → 1504
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:355 → 703
      Tuberin; Tuberin
      pfam11864
      Location:1 → 266
      DUF3384; Domain of unknown function (DUF3384)

    7. NM_001318832.2 → NP_001305761.1  tuberin isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR, uses an alternate start codon and contains multiple coding region differences, compared to variant 1. It encodes isoform 9, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC093513, AK295672, AK295728, CA427637
      Consensus CDS
      CCDS81932.1
      UniProtKB/TrEMBL
      H3BMQ0, X5D9D6
      Related
      ENSP00000454487.1, ENST00000568454.6
      Conserved Domains (3) summary
      pfam02145
      Location:1506 → 1692
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:566 → 914
      Tuberin; Tuberin
      pfam11864
      Location:65 → 477
      DUF3384; Domain of unknown function (DUF3384)

    8. NM_001363528.2 → NP_001350457.1  tuberin isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC093513, KJ534954
      Consensus CDS
      CCDS92085.1
      UniProtKB/TrEMBL
      A0A2R8YGU4, X5D2U8, X5D9D6
      Related
      ENSP00000493846.1, ENST00000642797.1
      Conserved Domains (3) summary
      pfam02145
      Location:1496 → 1682
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:55 → 469
      DUF3384; Domain of unknown function (DUF3384)

    9. NM_001370404.1 → NP_001357333.1  tuberin isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC093513
      Consensus CDS
      CCDS92086.1
      UniProtKB/TrEMBL
      X5D9D6
      Related
      ENSP00000494514.1, ENST00000642936.1
      Conserved Domains (3) summary
      pfam02145
      Location:1518 → 1704
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin
      pfam11864
      Location:54 → 469
      DUF3384; Domain of unknown function (DUF3384)

    10. NM_001370405.1 → NP_001357334.1  tuberin isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC093513
      Consensus CDS
      CCDS92084.1
      UniProtKB/TrEMBL
      A0A2R8YDZ2, A0A2R8YGU4, X5D9D6
      Related
      ENSP00000495099.1, ENST00000642561.1
      Conserved Domains (3) summary
      pfam02145
      Location:1519 → 1701
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin
      pfam11864
      Location:54 → 469
      DUF3384; Domain of unknown function (DUF3384)

    11. NM_001406663.1 → NP_001393592.1  tuberin isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC093513
      UniProtKB/TrEMBL
      A0A2R8Y6C9
      Related
      ENSP00000495459.2, ENST00000642365.2

    12. NM_001406664.1 → NP_001393593.1  tuberin isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC093513
      Related
      ENSP00000493990.1, ENST00000644399.1

    13. NM_001406665.1 → NP_001393594.1  tuberin isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC093513

    14. NM_001406667.1 → NP_001393596.1  tuberin isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC093513
      Related
      ENSP00000495146.2, ENST00000642206.2

    15. NM_001406668.1 → NP_001393597.1  tuberin isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC093513

    16. NM_001406670.1 → NP_001393599.1  tuberin isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC093513

    17. NM_001406671.1 → NP_001393600.1  tuberin isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC093513

    18. NM_001406673.1 → NP_001393602.1  tuberin isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC093513

    19. NM_001406675.1 → NP_001393604.1  tuberin isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC093513

    20. NM_001406676.1 → NP_001393605.1  tuberin isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC093513

    21. NM_001406677.1 → NP_001393606.1  tuberin isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC093513

    22. NM_001406678.1 → NP_001393607.1  tuberin isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC093513

    23. NM_001406679.1 → NP_001393608.1  tuberin isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC093513

    24. NM_001406680.1 → NP_001393609.1  tuberin isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC093513

    25. NM_001406681.1 → NP_001393610.1  tuberin isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC093513

    26. NM_001406682.1 → NP_001393611.1  tuberin isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC093513

    27. NM_001406683.1 → NP_001393612.1  tuberin isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC093513

    28. NM_001406684.1 → NP_001393613.1  tuberin isoform 29

      Status: REVIEWED

      Source sequence(s)
      AC093513

    29. NM_001406685.1 → NP_001393614.1  tuberin isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC093513

    30. NM_001406686.1 → NP_001393615.1  tuberin isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC093513

    31. NM_001406687.1 → NP_001393616.1  tuberin isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC093513

    32. NM_001406688.1 → NP_001393617.1  tuberin isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC093513

    33. NM_001406689.1 → NP_001393618.1  tuberin isoform 32

      Status: REVIEWED

      Source sequence(s)
      AC093513

    34. NM_001406690.1 → NP_001393619.1  tuberin isoform 33

      Status: REVIEWED

      Source sequence(s)
      AC093513

    35. NM_001406691.1 → NP_001393620.1  tuberin isoform 34

      Status: REVIEWED

      Source sequence(s)
      AC093513

    36. NM_001406692.1 → NP_001393621.1  tuberin isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC093513

    37. NM_001406693.1 → NP_001393622.1  tuberin isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC093513

    38. NM_001406694.1 → NP_001393623.1  tuberin isoform 35

      Status: REVIEWED

      Source sequence(s)
      AC093513

    39. NM_001406695.1 → NP_001393624.1  tuberin isoform 36

      Status: REVIEWED

      Source sequence(s)
      AC093513

    40. NM_001406696.1 → NP_001393625.1  tuberin isoform 36

      Status: REVIEWED

      Source sequence(s)
      AC093513

    41. NM_001406697.1 → NP_001393626.1  tuberin isoform 36

      Status: REVIEWED

      Source sequence(s)
      AC093513

    42. NM_001406698.1 → NP_001393627.1  tuberin isoform 37

      Status: REVIEWED

      Source sequence(s)
      AC093513

    43. NM_021055.3 → NP_066399.2  tuberin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093513, CA427637
      Consensus CDS
      CCDS10459.1
      UniProtKB/TrEMBL
      A0A2R8YGU4, X5D9D6
      Related
      ENSP00000496262.1, ENST00000644043.1
      Conserved Domains (3) summary
      pfam02145
      Location:1519 → 1705
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:55 → 469
      DUF3384; Domain of unknown function (DUF3384)

    RNA

    1. NR_176225.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093513
      Related
      ENST00000568566.6

    2. NR_176226.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093513

    3. NR_176227.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093513

    4. NR_176228.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093513

    5. NR_176229.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093513

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2047985..2089491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522636.3 → XP_011520938.1  tuberin isoform X1

      UniProtKB/TrEMBL
      A0A2R8Y670
      Related
      ENSP00000495110.2, ENST00000645186.2
      Conserved Domains (3) summary
      pfam02145
      Location:1580 → 1766
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:54 → 466
      DUF3384; Domain of unknown function (DUF3384)

    2. XM_011522637.3 → XP_011520939.1  tuberin isoform X2

      UniProtKB/TrEMBL
      A0A2R8Y670
      Conserved Domains (3) summary
      pfam02145
      Location:1579 → 1765
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:54 → 466
      DUF3384; Domain of unknown function (DUF3384)

    3. XM_011522639.3 → XP_011520941.1  tuberin isoform X4

      UniProtKB/TrEMBL
      A0A2R8YGU4, X5D9D6
      Conserved Domains (3) summary
      pfam02145
      Location:1537 → 1723
      Rap_GAP; Rap/ran-GAP
      pfam03542
      Location:555 → 903
      Tuberin; Tuberin
      pfam11864
      Location:54 → 466
      DUF3384; Domain of unknown function (DUF3384)

    4. XM_011522638.3 → XP_011520940.3  tuberin isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2067794..2109598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313812.1 → XP_054169787.1  tuberin isoform X1

    2. XM_054313813.1 → XP_054169788.1  tuberin isoform X2

    3. XM_054313815.1 → XP_054169790.1  tuberin isoform X4

    4. XM_054313814.1 → XP_054169789.1  tuberin isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021056.1: Suppressed sequence

      Description
      NM_021056.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49815.2 GenPept UniProtKB/Swiss-Prot:P49815

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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