TSC2 (GeneID: 7249) | Homo sapiens
Description: TSC complex subunit 2 [Source:HGNC Symbol;Acc:HGNC:12363]
Synonyms: LAM, TSC4, PPP1R160
Other ID(s): ENSG00000103197, HGNC:12363
Protein Accession Numbers: ENST00000219476.3, ENST00000467949, NP_001107854, NP_066399, ENST00000432909, ENST00000569110, NP_001350457, ENST00000353929, ENST00000483020, NP_001305758, ENST00000219476, ENST00000439673, NP_001070651, NP_001357334, ENST00000401874, ENST00000568566, NP_001305761, ENST00000350773, ENST00000471143, NP_001305756, ENST00000439117, NP_000539, NP_001357333, ENST00000382538, ENST00000568454, NP_001305760
Statistics: ClinVar(4016) gnomAD(2005) COSMIC(1743) PTM(113)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000219476 ENST00000350773 ENST00000353929 ENST00000382538 ENST00000401874 ENST00000432909 ENST00000439117 ENST00000439673 You are here now! ENST00000467949 ENST00000471143 ENST00000483020 ENST00000568454 ENST00000568566 ENST00000569110 NP_000539 NP_001070651 NP_001107854 NP_001305756 You are here now! NP_001305758 NP_001305760 NP_001305761 NP_001350457 NP_001357333 NP_001357334 NP_066399


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF02145 Rap_GAP Rap/ran-GAP 1561-1749 Homo sapiens
PF03542 Tuberin Tuberin 555-903 Homo sapiens
PF11864 DUF3384 Domain of unknown function (DUF3384) 54-470 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Autistic Disorder Mental Disorders ; 0.463 0.69
Brain Diseases Nervous System Diseases ; 0.463 0.69
Malignant Neoplasms Neoplasms ; 0.463 0.69
Squamous cell carcinoma Neoplasms ; 0.463 0.69
Ehlers-Danlos Syndrome Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.463 0.69
Epilepsy Nervous System Diseases ; 0.463 0.69
Inflammation Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Kidney Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.463 0.69
Fibroid Tumor Neoplasms ; 0.463 0.69
Leukemia, Myelocytic, Acute Neoplasms ; 0.463 0.69
Mouth Neoplasms Neoplasms ; Stomatognathic Diseases ; 0.463 0.69
Acute Myeloid Leukemia, M1 Neoplasms ; 0.463 0.69
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Pancreatic Neoplasm Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ; 0.463 0.69
Precancerous Conditions Neoplasms ; 0.463 0.69
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
West Syndrome Nervous System Diseases ; 0.463 0.69
Tuberous Sclerosis Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Uterine Fibroids Neoplasms ; 0.463 0.69
Encephalopathies Nervous System Diseases ; 0.463 0.69
Epilepsy, Cryptogenic Nervous System Diseases ; 0.463 0.69
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Malignant neoplasm of mouth Neoplasms ; Stomatognathic Diseases ; 0.463 0.69
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Aura Nervous System Diseases ; 0.463 0.69
Fibrous skin tumor of tuberous sclerosis Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Adult Hepatocellular Carcinoma N/A 0.463 0.69
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.463 0.69
Condition, Preneoplastic Neoplasms ; 0.463 0.69
Malignant neoplasm of pancreas Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ; 0.463 0.69
Cryptogenic Infantile Spasms Nervous System Diseases ; 0.463 0.69
Symptomatic Infantile Spasms Nervous System Diseases ; 0.463 0.69
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Epileptic encephalopathy N/A 0.463 0.69
Nodding spasm Nervous System Diseases ; 0.463 0.69
Thyroid carcinoma Neoplasms ; Endocrine System Diseases ; 0.463 0.69
Jackknife Seizures Nervous System Diseases ; 0.463 0.69
Hypsarrhythmia Nervous System Diseases ; 0.463 0.69
Malignant neoplasm of kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.463 0.69
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Awakening Epilepsy Nervous System Diseases ; 0.463 0.69
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Lymphangioleiomyomatosis Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.463 0.69
Squamous cell carcinoma of the head and neck Neoplasms ; 0.463 0.69
spasmus nutans Nervous System Diseases ; 0.463 0.69
Salaam Seizures Nervous System Diseases ; 0.463 0.69
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.463 0.69
Polycystic kidneys, severe infantile with tuberous sclerosis Neoplasms ; Nervous System Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
FOCAL CORTICAL DYSPLASIA OF TAYLOR Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Focal Cortical Dysplasia of Taylor, Type IIa Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Focal Cortical Dysplasia of Taylor, Type IIb Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
TUBEROUS SCLEROSIS 1 (disorder) Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
TUBEROUS SCLEROSIS 2 (disorder) Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.463 0.69
Malformations of Cortical Development Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Tsc2 Angiomyolipomas, Renal, Modifier Of Neoplasms ; Nervous System Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.463 0.69
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.463 0.69
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
FOCAL CORTICAL DYSPLASIA, TYPE IIA N/A 0.463 0.69
FOCAL CORTICAL DYSPLASIA, TYPE IIB N/A 0.463 0.69
FCD IIA N/A 0.463 0.69
FCD IIB N/A 0.463 0.69
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.463 0.69
NO RESULT FOUND
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