U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 7249, updated on 14-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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
Compare labs
Lymphangiomyomatosis
MedGen: C0751674 OMIM: 606690 GeneReviews: Not available
Compare labs
Tuberous sclerosis 2
MedGen: C1860707 OMIM: 613254 GeneReviews: Tuberous Sclerosis Complex
Compare labs

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 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 
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

Go to the top of the page Help
Preferred Names
tuberin
Names
protein phosphatase 1, regulatory subunit 160
tuberous sclerosis 2 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous