TSC2 - TSC complex subunit 2 Gene

Also Known as LAM; TSC4; PPP1R160

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7249

About TSC2

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,047,985-2,089,491 (from NCBI)

This gene has 69 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 165 phenotypes. Ubiquitous expression in testis (RPKM 18.9), thyroid (RPKM 12.5) and 25 other tissues.

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]

TSC2 Products (86)

mRNA	Protein	Name
NM_000548.5	NP_000539.2	tuberin isoform 1
NM_001077183.3	NP_001070651.1	tuberin isoform 4
NM_001114382.3	NP_001107854.1	tuberin isoform 5
NM_001318827.2	NP_001305756.1	tuberin isoform 6
NM_001318829.2	NP_001305758.1	tuberin isoform 7
NM_001318831.2	NP_001305760.1	tuberin isoform 8
NM_001318832.2	NP_001305761.1	tuberin isoform 9
NM_001363528.2	NP_001350457.1	tuberin isoform 10
NM_001370404.1	NP_001357333.1	tuberin isoform 11
NM_001370405.1	NP_001357334.1	tuberin isoform 12
NM_001406663.1	NP_001393592.1	tuberin isoform 13
NM_001406664.1	NP_001393593.1	tuberin isoform 14
NM_001406665.1	NP_001393594.1	tuberin isoform 15
NM_001406667.1	NP_001393596.1	tuberin isoform 16
NM_001406668.1	NP_001393597.1	tuberin isoform 17
NM_001406670.1	NP_001393599.1	tuberin isoform 18
NM_001406671.1	NP_001393600.1	tuberin isoform 19
NM_001406673.1	NP_001393602.1	tuberin isoform 20
NM_001406675.1	NP_001393604.1	tuberin isoform 21
NM_001406676.1	NP_001393605.1	tuberin isoform 22
NM_001406677.1	NP_001393606.1	tuberin isoform 23
NM_001406678.1	NP_001393607.1	tuberin isoform 24
NM_001406679.1	NP_001393608.1	tuberin isoform 25
NM_001406680.1	NP_001393609.1	tuberin isoform 26
NM_001406681.1	NP_001393610.1	tuberin isoform 27
NM_001406682.1	NP_001393611.1	tuberin isoform 28
NM_001406683.1	NP_001393612.1	tuberin isoform 28
NM_001406684.1	NP_001393613.1	tuberin isoform 29
NM_001406685.1	NP_001393614.1	tuberin isoform 30
NM_001406686.1	NP_001393615.1	tuberin isoform 30
NM_001406687.1	NP_001393616.1	tuberin isoform 31
NM_001406688.1	NP_001393617.1	tuberin isoform 31
NM_001406689.1	NP_001393618.1	tuberin isoform 32
NM_001406690.1	NP_001393619.1	tuberin isoform 33
NM_001406691.1	NP_001393620.1	tuberin isoform 34
NM_001406692.1	NP_001393621.1	tuberin isoform 35
NM_001406693.1	NP_001393622.1	tuberin isoform 35
NM_001406694.1	NP_001393623.1	tuberin isoform 35
NM_001406695.1	NP_001393624.1	tuberin isoform 36
NM_001406696.1	NP_001393625.1	tuberin isoform 36
NM_001406697.1	NP_001393626.1	tuberin isoform 36
NM_001406698.1	NP_001393627.1	tuberin isoform 37
NM_021055.3	NP_066399.2	tuberin isoform 2
NM_000548.5	NP_000539.2	tuberin isoform 1
NM_001077183.3	NP_001070651.1	tuberin isoform 4
NM_001114382.3	NP_001107854.1	tuberin isoform 5
NM_001318827.2	NP_001305756.1	tuberin isoform 6
NM_001318829.2	NP_001305758.1	tuberin isoform 7
NM_001318831.2	NP_001305760.1	tuberin isoform 8
NM_001318832.2	NP_001305761.1	tuberin isoform 9
NM_001363528.2	NP_001350457.1	tuberin isoform 10
NM_001370404.1	NP_001357333.1	tuberin isoform 11
NM_001370405.1	NP_001357334.1	tuberin isoform 12
NM_001406663.1	NP_001393592.1	tuberin isoform 13
NM_001406664.1	NP_001393593.1	tuberin isoform 14
NM_001406665.1	NP_001393594.1	tuberin isoform 15
NM_001406667.1	NP_001393596.1	tuberin isoform 16
NM_001406668.1	NP_001393597.1	tuberin isoform 17
NM_001406670.1	NP_001393599.1	tuberin isoform 18
NM_001406671.1	NP_001393600.1	tuberin isoform 19
NM_001406673.1	NP_001393602.1	tuberin isoform 20
NM_001406675.1	NP_001393604.1	tuberin isoform 21
NM_001406676.1	NP_001393605.1	tuberin isoform 22
NM_001406677.1	NP_001393606.1	tuberin isoform 23
NM_001406678.1	NP_001393607.1	tuberin isoform 24
NM_001406679.1	NP_001393608.1	tuberin isoform 25
NM_001406680.1	NP_001393609.1	tuberin isoform 26
NM_001406681.1	NP_001393610.1	tuberin isoform 27
NM_001406682.1	NP_001393611.1	tuberin isoform 28
NM_001406683.1	NP_001393612.1	tuberin isoform 28
NM_001406684.1	NP_001393613.1	tuberin isoform 29
NM_001406685.1	NP_001393614.1	tuberin isoform 30
NM_001406686.1	NP_001393615.1	tuberin isoform 30
NM_001406687.1	NP_001393616.1	tuberin isoform 31
NM_001406688.1	NP_001393617.1	tuberin isoform 31
NM_001406689.1	NP_001393618.1	tuberin isoform 32
NM_001406690.1	NP_001393619.1	tuberin isoform 33
NM_001406691.1	NP_001393620.1	tuberin isoform 34
NM_001406692.1	NP_001393621.1	tuberin isoform 35
NM_001406693.1	NP_001393622.1	tuberin isoform 35
NM_001406694.1	NP_001393623.1	tuberin isoform 35
NM_001406695.1	NP_001393624.1	tuberin isoform 36
NM_001406696.1	NP_001393625.1	tuberin isoform 36
NM_001406697.1	NP_001393626.1	tuberin isoform 36
NM_001406698.1	NP_001393627.1	tuberin isoform 37
NM_021055.3	NP_066399.2	tuberin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	9045618	GOA
enables Hsp90 protein binding	IPI IPI: Inferred from physical interaction	29127155	GOA
enables phosphatase binding	IDA IDA: Inferred from direct assay	19389623	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9580671	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	10585443	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	25936802	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in anoikis	IGI IGI: Inferred from genetic interaction	23778976	GOA
involved in cellular response to starvation	IDA IDA: Inferred from direct assay	24529379	GOA
involved in negative regulation of TOR signaling	IDA IDA: Inferred from direct assay	22795129	GOA
involved in negative regulation of TOR signaling	IGI IGI: Inferred from genetic interaction	23778976	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	9045618	GOA
involved in positive regulation of macroautophagy	IGI IGI: Inferred from genetic interaction	23778976	GOA

Cellular Component GO Annotation	Evidence	References	Source
NOT located in Golgi apparatus	IDA IDA: Inferred from direct assay	10585443	GOA
located in Golgi apparatus	IDA IDA: Inferred from direct assay	8806680	GOA
part of TSC1-TSC2 complex	IDA IDA: Inferred from direct assay	9580671	GOA
part of TSC1-TSC2 complex	IPI IPI: Inferred from physical interaction	22795129	GOA
colocalizes with cytoplasm	IDA IDA: Inferred from direct assay	17114346	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9580671	GOA
located in cytosol	IDA IDA: Inferred from direct assay	10585443	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	24529379	GOA
located in lysosome	IDA IDA: Inferred from direct assay	25936802	GOA
located in membrane	IDA IDA: Inferred from direct assay	16636147	GOA
NOT located in nucleus	IDA IDA: Inferred from direct assay	16636147	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17114346	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	8806680	GOA
is active in postsynaptic density	EXP EXP: Inferred from Experiment	27898073	GOA
is active in postsynaptic density	IDA IDA: Inferred from direct assay	27898073	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSC2 Protein Structure

DUF3384

Tuberin

Rap_GAP

0
300
600
900
1200
1500
1807 a.a.

Protein Preferred Names	Protein Names
tuberin	protein phosphatase 1, regulatory subunit 160

TSC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TSC2	P49815	SGK1	Homo sapiens	O00141	Anti Tag CoIP	27451907
Intra	TSC2	P49815	SGK1	Homo sapiens	O00141	FRET	27451907
Intra	TSC2	P49815	SGK1	Homo sapiens	O00141	Anti Bait CoIP	27451907
Intra	TSC2	P49815	TSC1	Homo sapiens	Q92574	Y2H	9580671
Intra	TSC2	P49815	TSC1	Homo sapiens	Q92574	Anti Tag CoIP	25263562
Intra	TSC2	P49815	TSC1	Homo sapiens	Q92574	Anti Tag CoIP	33436626
Intra	TSC2	P49815	TSC1	Homo sapiens	Q92574	Anti Bait CoIP	21134130
Intra	TSC2	P49815	TSC1	Homo sapiens	Q92574	Anti Bait CoIP	20412061
Intra	TSC2	P49815	TSC1	Homo sapiens	Q92574	Anti Bait CoIP	17693255
Intra	TSC2	P49815	SIRT1	Homo sapiens	Q96EB6	Anti Bait CoIP	20169165
Intra	TSC2	P49815	YWHAZ	Homo sapiens	P63104	Far-WB	15161933
Intra	TSC2	P49815	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	TSC2	P49815	YWHAZ	Homo sapiens	P63104	Filter Binding	12438239
Intra	TSC2	P49815	YWHAZ	Homo sapiens	P63104	Pull Down	12176984
Intra	TSC2	P49815	YWHAB	Homo sapiens	P31946	Experimental Interac	12468542
Intra	TSC2	P49815	YWHAB	Homo sapiens	P31946	CoIP	12582162
Intra	TSC2	P49815	YWHAB	Homo sapiens	P31946	Y2H	12468542
Intra	TSC2	P49815	YWHAB	Homo sapiens	P31946	CoIP	12468542
Intra	TSC2	P49815	YWHAB	Homo sapiens	P31946	CoIP	15324660
Intra	TSC2	P49815	YWHAB	Homo sapiens	P31946	Pull Down	20169078

Cross: Cross-species interaction Intra: Intraspecies interaction

TSC2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810584	Phospho-Tuberin (Ser939) Antibody (YA9848)	WB	Human, Mouse
HY-P810585	Phospho-Tuberin (Thr1462) Antibody (YA9849)	WB	Human, Mouse, Rat
HY-P83292	Tuberin Antibody (YA3037)	WB, IHC-P, FC	Human, Mouse, Rat
HY-P86179	Tuberin Antibody (YA5871)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Lymphangioleiomyomatosis	Lymphangiomyomatosis LAM Lung Lymphangioleiomyomatosis Pulmonary Lymphangioleiomyomatosis Lymphangioleiomyomatosis, Somatic Lymphangio-Myomatosis
Focal Cortical Dysplasia, Type Ii	Focal Cortical Dysplasia Of Taylor Cortical Dysplasia Of Taylor Cdt Fcdt Isolated Focal Cortical Dysplasia Type Ii FCORD2 Fcd2 Focal Cortical Dysplasia Type 2 Cortical Dysplasia Of Taylor, Dysplasia Only Focal Cortical Dysplasia, Type Ii, Somatic Focal Cortical Dysplasia Type Ii Isolated Focal Cortical Dysplasia Type Iib Fcd Type Iib Cortical Dysplasia, Taylor Type Fcd Type Ii Isolated Focal Cortical Dysplasia Type 2 Isolated Focal Cortical Dysplasia Type Iia Fcd Type Iia Isolated Focal Cortical Dysplasia Epilepsy Due To Fcd Focal Cortical Dysplasia 2 Cdtbc Cdtd Cortical Dysplasia Of Taylor With Balloon Cells Cortical Dysplasia Of Taylor Without Balloon Cells Fcd Iia Fcd Iib Fcord2a Fcord2b Focal Cortical Dysplasia, Type Iia Focal Cortical Dysplasia, Type Iib Focal Cortical Dysplasia Of Taylor Balloon Cell Type FCDBC Focal Cortical Dysplasia, Taylor Balloon Cell Type Dysplasia, Cortical, Focal Type Ii Focal Cortical Dysplasia Of Taylor, Type Iib
Tuberous Sclerosis 2	Tsc2 Angiomyolipomas, Renal, Modifier Of TSC2 Tuberous Sclerosis Tuberous Sclerosis-2 Tuberous Sclerosis, Type 2 Ts Tuberous Sclerosis Complex
Tuberous Sclerosis 1	Tuberous Sclerosis Complex Tuberous Sclerosis Bourneville Syndrome TSC1 Tuberose Sclerosis Ts Tuberous Sclerosis-1 Bourneville Disease Tsc Bourneville Phakomatosis Cerebral Sclerosis Sclerosis Tuberosa Tuberous Sclerosis, Type 1
Tuberous Sclerosis	Tuberous Sclerosis Syndrome Bourneville'S Disease Epiloia Cerebral Sclerosis Tuberose Sclerosis Tuberous Sclerosis 1 Bourneville Disease Bourneville Phakomatosis Pringle'S Disease
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic Kidney Disease 1 PKD1 Adpkd Polycystic Kidney Disease, Adult, Type I Apkd1 Potter Type Iii Polycystic Kidney Disease Polycystic Kidney Disease, Adult Potter Type Iii Polycystic Kidney Disease, Formerly Polycystic Kidney Disease, Type 1 Adpkd1 Adult Polycystic Kidney Disease Type 1 Autosomal Dominant Polycystic Kidney Disease 1 Pkd-1 Polycystic Kidney Disease Adult Polycystic Kidney Disease Type I Polycystic Kidneys Polycystic Kidney Disease, Adult Type I Polycystic Kidney Type 1 Autosomal Dominant Disease Kidney Disease, Polycystic, Type 1 Polycystic Kidney, Autosomal Dominant Polycystic Kidney, Type 1 Autosomal Dominant Disease Polycystic Kidney Diseases
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Angiomyolipoma	Angiomyolipoma Of Kidney
Subependymal Giant Cell Astrocytoma	Sega Astrocytoma Subependymal Giant Cell Subependymal Giant-Cell Astrocytoma
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	PKDTS Tuberous Sclerosis/Polycystic Kidney Disease Contiguous Gene Syndrome Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Chromosome 16p13.3 Deletion Syndrome, Distal Tuberous Sclerosis Polycystic Kidney Disease Contiguous Gene Syndrome Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis Tsc2/Pkd1 Contiguous Gene Syndrome
Kidney Angiomyolipoma	Angiomyolipoma Of Kidney Renal Angiomyolipoma
Peutz-Jeghers Syndrome	PJS Polyposis, Hamartomatous Intestinal Polyps-And-Spots Syndrome Lentiginosis, Perioral Periorificial Lentiginosis Syndrome Hamartomatous Intestinal Polyposis Hamartomatous Polyp Colonic Hamartomatous Polyp Gastric Peutz-Jeghers Polyp Peutz Jeghers Colon Polyp Peutz Jeghers Polyp Peutz-Jeghers Polyp Of Small Intestine Peutz-Jeghers Small Bowel Hamartoma Peutz Jeghers Polyposis Intestinal Polyposis-Cutaneous Pigmentation Syndrome Peutz-Jeghers Polyposis Polyposis, Intestinal, Ii Intestinal Hamartomatous Polyposis Peutz-Jeghers Polyp Peutz-Jeghers Polyp Of The Stomach Peutz Jehgers Polyp Peutz-Jeghers Polyps Of Small Bowel
Ganglioglioma	Childhood Ganglioglioma Adult Ganglioglioma Cns Ganglioglioma Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Subependymal Glioma	Mixed Subependymoma-Ependymoma Subependymal Astrocytoma Who Grade I Ependymal Tumor Glioma, Subependymal
Benign Ependymoma	Ependymoma Epithelial Ependymoma Who Grade Ii Ependymal Tumor Myxopapillary Ependymoma
Kidney Benign Neoplasm	Renal And Ureteral Tumor Benign Kidney Neoplasm
Adult Hepatocellular Carcinoma	Adult Primary Hepatocellular Carcinoma Adult Hepatoma Adult Hcc
Lymphangiomatosis
Subependymoma	Subependymal Astrocytoma Subependymal Glioma
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Ostravik-Lindemann-Solberg Syndrome CHDTHP Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome Orstavik Lindemann Solberg Syndrome Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome Heart Defect, Tongue Hamartoma And Polysyndactyly Hamartoma
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Perivascular Epithelioid Cell Tumor	Pecoma Perivascular Epithelioid Cell Neoplasms Neoplasm With Perivascular Epithelioid Cell Differentiation
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Hepatic Angiomyolipoma
Epithelioid Type Angiomyolipoma	Epithelioid Angiomyolipoma
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Fallopian Tube Leiomyoma
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Leiomyoma	Leiomyomatous Neoplasm Leiomyomatous Tumor Leiomyomas Fibroid Tumor Uterine Fibroids
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Optic Nerve Astrocytoma	Astrocytic Tumor Of Optic Nerve Optic Tract Astrocytoma Visual Pathway Astrocytoma
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Disease Vhl Vhl Syndrome VHLS Von Hippel-Lindau Syndrome, Modifier Of Hippel Lindau Syndrome Angiomatosis Retinae Cerebelloretinal Angiomatosis, Familial Hippel-Lindau Disease Familial Cerebelloretinal Angiomatosis Lindau Disease VHLD
Perivascular Tumor	Malignant Perivascular Cancer
Kidney Cancer	Renal Cancer Renal Carcinoma Kidney Neoplasm Malignant Neoplasm Of Kidney Except Pelvis Malignant Tumour Of Kidney Kidney Neoplasms Cancer, Kidney Cancer, Renal Malignant Neoplasm Of Kidney Renal Cell Carcinoma
Heart Cancer	Malignant Neoplasm Of Heart Heart Neoplasm Cardiac Tumor Malignant Cardiac Tumor Tumour Of Heart Heart Neoplasms Cardiac Carcinoma
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Lymphoid Interstitial Pneumonia	Lymphocytic Interstitial Pneumonia Lip Disease Lip Diseases LIP Disease Of Lips
Birt-Hogg-Dube Syndrome	Hornstein-Knickenberg Syndrome Fibrofolliculomas With Trichodiscomas And Acrochordons BHD Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculoma Familial Bhd Syndrome Birt Hogg Dube Syndrome Hornstein-Birt-Hogg-Dubé Syndrome Multiple Fibrofolliculomas
Hemangioma	Hemangiomas
Fallopian Tube Benign Neoplasm
Corneal Dystrophy, Fleck	Fleck Corneal Dystrophy Fcd CFD Corneal Fleck Dystrophy Francois-Neetens Speckled Corneal Dystrophy Corneal Dystrophy, Francois-Neetens Speckled Or Flecked Corneal Dystrophy Francois-Neetens Speckled Or Flecked Dystrophy, Corneal, Fleck
Proteus Syndrome	Proteus Syndrome, Somatic Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly Wiedemann'S Syndrome Hemihypertrophy And Macrocephaly Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly Ps PROTEUSS Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly
Multilocular Clear Cell Renal Cell Carcinoma	Cystadenocarcinoma Of Kidney Renal Cystadenocarcinoma
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Low Grade Glioma	Benign Glioma
Central Nervous System Benign Neoplasm	Benign Neoplasm Of The Central Nervous System
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Hereditary Renal Cell Carcinoma
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Angiolipoma
Obstructive Hydrocephalus
Spinal Cord Disease	Spinal Cord Diseases Myelopathy Bone Marrow Diseases
Connective Tissue Benign Neoplasm	Soft Tissue Neoplasms Mesenchymal Tissue Neoplasm Neoplasm Of Soft Tissue Neoplasm Of Soft Tissues Soft Tissue Benign Neoplasm Tumor Of The Soft Tissue Soft Tissue Neoplasm
Cowden Syndrome 4	CWS4 Cowden Syndrome, Type 4
Vascular Cancer	Blood Vessel Tumors Malignant Vascular Neoplasm Renal Vein Leiomyosarcoma Vascular Neoplasms Blood Vessel Neoplasm Blood Vessel Tumor Blood Vessel Tumour Disorder Haemangiomatous Tumour Leiomyosarcoma Of The Renal Vein Malignant Great Vessel Tumor Malignant Tumor Of Pulmonary Artery Malignant Tumor Of Pulmonary Vein Malignant Vascular Tumor Neoplasm Of Great Vessel Pulmonary Artery Malignant Neoplasm Pulmonary Vein Malignant Neoplasm Vascular Tissue Neoplasm Vascular Tumors Blood Vessel Cancer Neoplasms, Vascular Tissue Malignant Neoplasm Of Great Vessels
Uterine Benign Neoplasm
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Hypomelanosis Of Ito	Incontinentia Pigmenti Achromians Nevus Of Ito Ipa Ito Hypomelanosis Ito Pigmentation Disorders HMI Incontinentia Pigmenti, Type I, Formerly Ip1, Formerly Bloch-Siemans Syndrome Incontinentia Pigmenti Achromians Syndrome Ito'S Nevus Incontinentia Pigmenti Type 1 Nevi Of Ito Nevus Fuscocaeruleus Acromiodeltoideus Bloch Sulzberger Syndrome Skin Pigmentation Disorder
Pitt-Hopkins-Like Syndrome 1	Cortical Dysplasia-Focal Epilepsy Syndrome CDFES PTHSL1 Cdfe Syndrome Pitt-Hopkins Like Syndrome 1 Pitt-Hopkins-Like Syndrome-1 Cntnap2-Related Developmental And Epileptic Encephalopathy Cntnap2-Related Dee Mesh D006985 Mesh D008607
Sturge-Weber Syndrome	SWS Encephalotrigeminal Angiomatosis Encephalofacial Angiomatosis Sturge-Weber-Dimitri Syndrome Sturge-Weber-Krabbe Syndrome Fourth Phacomatosis Leptomeningeal Angiomatosis Meningeal Capillary Angiomatosis Sturge-Weber-Krabbe Angiomatosis Sturge-Weber Syndrome, Somatic, Mosaic Sws Type I - Facial And Leptomeningeal Angiomas Sws Type Ii - Facial Angioma Alone, No Cns Involvement Sws Type Iii - Isolated Leptomeningeal Angiomas Sturge Weber Syndrome Angiomatosis Aculoorbital-Thalamic Syndrome Encephalofacial Hemangiomatosis Encephalofacial Hemangiomatosis Syndrome Meningo-Oculo-Facial Angiomatosis Meningofacial Angiomatosis-Cerebral Calcification Syndrome Neuroretinoangiomatosis Phakomatosis, Sturge-Weber Weber-Sturge-Dimitri Syndrome
Reproductive Organ Benign Neoplasm
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Gangliocytoma	Ganglioneuroma Gangliocytoma Of Central Nervous System
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Endometrial Cancer	Endometrial Carcinoma Endometrial Neoplasm Malignant Neoplasm Of Endometrium Endometrioid Carcinoma Endometrial Neoplasms Carcinoma, Endometrioid Endometrial Cancer, Familial Endometrial Carcinoma, Somatic Endometrial Cancer, Susceptibility To Endometrial Ca Malignant Endometrial Neoplasm Neoplasm Of Endometrium Primary Malignant Neoplasm Of Endometrium Tumor Of Endometrium Carcinoma Of The Endometrium Endometrioid Carcinoma Of Female Reproductive System ENDMC Carcinoma Endometrioid Endometrial Cancers Cancer, Endometrial Uterine Corpus Cancer
Developmental And Epileptic Encephalopathy 87	DEE87 Epileptic Encephalopathy, Early Infantile, 87 Eiee87 Developmental And Epileptic Encephalopathy, 87 Early Infantile Epileptic Encephalopathy 87
Uterus Perivascular Epithelioid Cell Tumor	Uterine Corpus Pecoma
Stromal Dystrophy
Liver Lipoma	Hepatic Lipoma Lipoma Of The Liver
Respiratory System Benign Neoplasm
Specific Developmental Disorder
Cell Type Benign Neoplasm
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150229	306-N16B		99.27%	Unkown
HY-134904	RMC-6272	Inhibitor	97.42%	Unkown
HY-RS15132	TSC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23540	Tsc2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-134922	NS1-IN-1	Inhibitor	/	Unkown
HY-155475	mTORC1-IN-2	Inhibitor	/	Unkown
HY-RS17096	Tsc2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TSC2	VGNC	VGNC:66606
Mus musculus	TSC2	MGD	MGI:102548
Macaca mulatta	TSC2	VGNC	VGNC:78659
Bos taurus	TSC2	VGNC	VGNC:36408
Rattus norvegicus	TSC2	RGD	RGD:3908
Canis familiaris	TSC2	VGNC	VGNC:47891
Others	TSC2	NCBI