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

Summary

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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of TSC1 and TSC2 proteins in neuronal axons.
Title: The role of TSC1 and TSC2 proteins in neuronal axons.
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.
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.
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.
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.
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.
Non-canonical functions of a mutant TSC2 protein in mitotic division.
Title: Non-canonical functions of a mutant TSC2 protein in mitotic division.
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.
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.
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	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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH68414 (e-PCR)
- UniSTS:51785

SHGC-30026 (e-PCR)
- UniSTS:72026

RH48126 (e-PCR)
- UniSTS:10339

csnpnthl1-pcr1-1 (e-PCR)
- UniSTS:243055

G35510 (e-PCR)
- UniSTS:44150

D8S1350E (e-PCR)
- UniSTS:151165

GDB:378419 (e-PCR)
- UniSTS:157074

STS-L48546 (e-PCR)
- UniSTS:34465

D16S3394 (e-PCR)
- UniSTS:12991

Tsc2 (e-PCR), detects polymorphism
- UniSTS:265679

Tsc2 (e-PCR), detects polymorphism
- UniSTS:527589

MARC_14857-14858:1010755319:1 (e-PCR)
- UniSTS:267754

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

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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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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

NG_005895.1 RefSeqGene

Range

3684..44407

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_487

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC093513

UniProtKB/TrEMBL

A0A2R8Y6C9

Related

ENSP00000495459.2, ENST00000642365.2
NM_001406664.1 → NP_001393593.1 tuberin isoform 14

Status: REVIEWED

Source sequence(s)

AC093513

Related

ENSP00000493990.1, ENST00000644399.1
NM_001406665.1 → NP_001393594.1 tuberin isoform 15

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406667.1 → NP_001393596.1 tuberin isoform 16

Status: REVIEWED

Source sequence(s)

AC093513

Related

ENSP00000495146.2, ENST00000642206.2
NM_001406668.1 → NP_001393597.1 tuberin isoform 17

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406670.1 → NP_001393599.1 tuberin isoform 18

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406671.1 → NP_001393600.1 tuberin isoform 19

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406673.1 → NP_001393602.1 tuberin isoform 20

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406675.1 → NP_001393604.1 tuberin isoform 21

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406676.1 → NP_001393605.1 tuberin isoform 22

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406677.1 → NP_001393606.1 tuberin isoform 23

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406678.1 → NP_001393607.1 tuberin isoform 24

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406679.1 → NP_001393608.1 tuberin isoform 25

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406680.1 → NP_001393609.1 tuberin isoform 26

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406681.1 → NP_001393610.1 tuberin isoform 27

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406682.1 → NP_001393611.1 tuberin isoform 28

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406683.1 → NP_001393612.1 tuberin isoform 28

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406684.1 → NP_001393613.1 tuberin isoform 29

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406685.1 → NP_001393614.1 tuberin isoform 30

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406686.1 → NP_001393615.1 tuberin isoform 30

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406687.1 → NP_001393616.1 tuberin isoform 31

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406688.1 → NP_001393617.1 tuberin isoform 31

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406689.1 → NP_001393618.1 tuberin isoform 32

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406690.1 → NP_001393619.1 tuberin isoform 33

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406691.1 → NP_001393620.1 tuberin isoform 34

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406692.1 → NP_001393621.1 tuberin isoform 35

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406693.1 → NP_001393622.1 tuberin isoform 35

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406694.1 → NP_001393623.1 tuberin isoform 35

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406695.1 → NP_001393624.1 tuberin isoform 36

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406696.1 → NP_001393625.1 tuberin isoform 36

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406697.1 → NP_001393626.1 tuberin isoform 36

Status: REVIEWED

Source sequence(s)

AC093513
NM_001406698.1 → NP_001393627.1 tuberin isoform 37

Status: REVIEWED

Source sequence(s)

AC093513
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

NR_176225.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093513

Related

ENST00000568566.6
NR_176226.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093513
NR_176227.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093513
NR_176228.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093513
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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

2047985..2089491

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

2067794..2109598

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054313812.1 → XP_054169787.1 tuberin isoform X1
XM_054313813.1 → XP_054169788.1 tuberin isoform X2
XM_054313815.1 → XP_054169790.1 tuberin isoform X4
XM_054313814.1 → XP_054169789.1 tuberin isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_021056.1: Suppressed sequence

Description

NM_021056.1: This RefSeq was removed because currently there is insufficient support for the transcript.