Tsc2 (TSC complex subunit 2) - Rat Genome Database

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Gene: Tsc2 (TSC complex subunit 2) Chinchilla lanigera
Analyze
Symbol: Tsc2
Name: TSC complex subunit 2
RGD ID: 8926086
Description: ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); GTPase activator activity (ortholog); Hsp90 protein binding (ortholog); INVOLVED IN anoikis (ortholog); B cell proliferation (ortholog); cell population proliferation (ortholog); PARTICIPATES IN mitogen activated protein kinase signaling pathway; mTOR signaling pathway; the extracellular signal-regulated Raf/Mek/Erk signaling pathway; ASSOCIATED WITH Acute Hepatitis (ortholog); acute myeloid leukemia (ortholog); Alzheimer's disease (ortholog); FOUND IN caveola (ortholog); cell projection (ortholog); cytoplasm (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: tuberin; tuberous sclerosis 2
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,178,487 - 15,216,362 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBIChiLan1.0ChiLan1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Hepatitis  (ISO)
acute myeloid leukemia  (ISO)
Alzheimer's disease  (ISO)
angiomyolipoma  (ISO)
Arthralgia  (ISO)
astroblastoma, MN1-altered  (ISO)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
autosomal dominant polycystic kidney disease  (ISO)
bone osteosarcoma  (ISO)
brain disease  (ISO)
Brain Neoplasms  (ISO)
breast cancer  (ISO)
Cafe-au-Lait Spots  (ISO)
developmental and epileptic encephalopathy 1  (ISO)
endometrial carcinoma  (ISO)
epilepsy  (ISO)
Experimental Diabetes Mellitus  (ISO)
familial adenomatous polyposis 3  (ISO)
Female Infertility  (ISO)
Fever  (ISO)
Focal Cortical Dysplasia of Taylor  (ISO)
genetic disease  (ISO)
Hamartoma  (ISO)
hemangioma  (ISO)
hepatic angiomyolipoma  (ISO)
hepatocellular carcinoma  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
Hirschsprung Disease 1  (ISO)
Hirschsprung's disease  (ISO)
idiopathic generalized epilepsy  (ISO)
Inflammation  (ISO)
intellectual disability  (ISO)
Joint Instability  (ISO)
Kidney Neoplasms  (ISO)
leiomyoma  (ISO)
Lung Neoplasms  (ISO)
lymphangioleiomyomatosis  (ISO)
Lymphatic Metastasis  (ISO)
medulloblastoma  (ISO)
Mouth Neoplasms  (ISO)
Nerve Degeneration  (ISO)
Nervous System Malformations  (ISO)
neuroblastoma  (ISO)
Neurodevelopmental Disorders  (ISO)
ovarian cancer  (ISO)
pancreatic cancer  (ISO)
pancreatic ductal carcinoma  (ISO)
polycystic kidney disease  (ISO)
pre-malignant neoplasm  (ISO)
renal cell carcinoma  (ISO)
short-rib thoracic dysplasia 9 with or without polydactyly  (ISO)
squamous cell carcinoma  (ISO)
tuberous sclerosis  (ISO)
tuberous sclerosis 1  (ISO)
tuberous sclerosis 2  (ISO)
uterine fibroid  (ISO)
vascular dementia  (ISO)
West syndrome  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anoikis  (ISO)
B cell proliferation  (ISO)
cell population proliferation  (ISO)
cell projection organization  (ISO)
cellular response to insulin stimulus  (ISO)
cellular response to starvation  (ISO)
D-glucose import  (ISO)
establishment of cell polarity  (ISO)
excitatory chemical synaptic transmission  (ISO)
heart development  (ISO)
inhibitory chemical synaptic transmission  (ISO)
negative regulation of axonogenesis  (ISO)
negative regulation of B cell proliferation  (ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of cell size  (ISO)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of epithelial to mesenchymal transition  (ISO)
negative regulation of fibroblast proliferation  (ISO)
negative regulation of macroautophagy  (ISO)
negative regulation of MAP kinase activity  (ISO)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (ISO)
negative regulation of pinocytosis  (ISO)
negative regulation of protein kinase activity  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of T cell proliferation  (ISO)
negative regulation of TOR signaling  (ISO)
negative regulation of TORC1 signaling  (ISO)
negative regulation of vascular endothelial cell proliferation  (ISO)
negative regulation of Wnt signaling pathway  (ISO)
neural tube closure  (ISO)
positive chemotaxis  (ISO)
positive regulation of autophagy  (ISO)
positive regulation of cell adhesion  (ISO)
positive regulation of dendritic spine development  (ISO)
positive regulation of fibroblast migration  (ISO)
positive regulation of insulin receptor signaling pathway  (ISO)
positive regulation of macroautophagy  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of transcription by RNA polymerase II  (ISO)
protein import into nucleus  (ISO)
protein localization  (ISO)
protein localization to cell surface  (ISO)
protein transport into plasma membrane raft  (ISO)
regulation of endocytosis  (ISO)
regulation of insulin receptor signaling pathway  (ISO)
regulation of postsynapse organization  (ISO)
response to hypoxia  (ISO)
social behavior  (ISO)
T cell proliferation  (ISO)
transcription by RNA polymerase II  (ISO)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
Tsc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,178,487 - 15,216,362 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBIChiLan1.0ChiLan1.0
TSC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,047,985 - 2,089,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl162,047,967 - 2,089,491 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,097,986 - 2,139,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,037,991 - 2,078,714 (+)NCBINCBI36Build 36hg18NCBI36
Build 34162,038,599 - 2,078,713NCBI
Celera162,310,097 - 2,350,826 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef162,022,255 - 2,063,441 (+)NCBIHuRef
CHM1_1162,097,965 - 2,138,628 (+)NCBICHM1_1
T2T-CHM13v2.0162,067,794 - 2,109,598 (+)NCBIT2T-CHM13v2.0
Tsc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,814,788 - 24,851,607 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1724,814,790 - 24,851,604 (-)EnsemblGRCm39 Ensembl
GRCm381724,595,816 - 24,632,676 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,595,816 - 24,632,630 (-)EnsemblGRCm38mm10GRCm38
MGSCv371724,732,882 - 24,769,574 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,323,537 - 24,360,229 (-)NCBIMGSCv36mm8
Celera1725,113,932 - 25,155,030 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.41NCBI
Tsc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,125,679 - 14,160,317 (-)NCBIGRCr8
mRatBN7.21013,621,135 - 13,655,773 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1013,621,136 - 13,655,951 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,367,921 - 18,402,464 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01017,856,767 - 17,891,310 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,355,965 - 13,390,509 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01013,962,006 - 13,996,684 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,961,947 - 13,996,584 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,778,990 - 13,813,725 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,848,210 - 13,883,189 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11013,848,241 - 13,882,689NCBI
Celera1013,301,129 - 13,335,713 (-)NCBICelera
Cytogenetic Map10q12NCBI
TSC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2182,258,660 - 2,298,636 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1166,040,481 - 6,080,306 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v016615,776 - 655,411 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1162,135,696 - 2,175,569 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,135,696 - 2,175,569 (+)Ensemblpanpan1.1panPan2
TSC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,865,509 - 38,898,977 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,865,507 - 38,898,960 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,104,412 - 40,137,701 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,173,764 - 39,207,052 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,173,766 - 39,207,060 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1638,858,570 - 38,891,854 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0638,830,888 - 38,864,172 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,309,683 - 39,342,799 (-)NCBIUU_Cfam_GSD_1.0
Tsc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,716,067 - 104,751,311 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366941,958,154 - 1,993,363 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366941,958,152 - 1,993,373 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,898,925 - 39,937,371 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,898,924 - 39,935,579 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,245,971 - 42,282,092 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TSC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,946,534 - 1,985,168 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl51,946,927 - 1,987,682 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606829,078,990 - 29,119,738 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tsc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624913166,931 - 202,953 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624913166,931 - 203,008 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSCLAT00000019639   ⟹   ENSCLAP00000019447
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_00495544215,178,487 - 15,216,362 (-)Ensembl
RefSeq Acc Id: XM_005391468   ⟹   XP_005391525
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005391470   ⟹   XP_005391527
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013517657   ⟹   XP_013373111
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013517658   ⟹   XP_013373112
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013517660   ⟹   XP_013373114
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013517661   ⟹   XP_013373115
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_013517662   ⟹   XP_013373116
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBI
Sequence:
RefSeq Acc Id: XP_005391525   ⟸   XM_005391468
- Peptide Label: isoform X1
- UniProtKB: A0A8C2VRI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005391527   ⟸   XM_005391470
- Peptide Label: isoform X5
- UniProtKB: A0A8C2VRI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013373114   ⟸   XM_013517660
- Peptide Label: isoform X4
- UniProtKB: A0A8C2VRI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013373116   ⟸   XM_013517662
- Peptide Label: isoform X7
- UniProtKB: A0A8C2VRI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013373115   ⟸   XM_013517661
- Peptide Label: isoform X6
- UniProtKB: A0A8C2VRI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013373112   ⟸   XM_013517658
- Peptide Label: isoform X3
- UniProtKB: A0A8C2VRI8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013373111   ⟸   XM_013517657
- Peptide Label: isoform X2
- UniProtKB: A0A8C2VRI8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSCLAP00000019447   ⟸   ENSCLAT00000019639
Protein Domains
Rap-GAP


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000013345 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000019639 ENTREZGENE
  ENSCLAT00000019639.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/TrEMBL
  3.40.50.11210 UniProtKB/TrEMBL
InterPro ARM-like UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/TrEMBL
  Rap/Ran-GAP_sf UniProtKB/TrEMBL
  Rap/Ran_GAP_dom UniProtKB/TrEMBL
  Tuberin UniProtKB/TrEMBL
  Tuberin-type_domain UniProtKB/TrEMBL
  Tuberin/Ral-act_asu UniProtKB/TrEMBL
  Tuberin_N UniProtKB/TrEMBL
NCBI Gene Tsc2 ENTREZGENE
PANTHER PTHR10063 UniProtKB/TrEMBL
  TUBERIN UniProtKB/TrEMBL
Pfam DUF3384 UniProtKB/TrEMBL
  Rap_GAP UniProtKB/TrEMBL
  Tuberin UniProtKB/TrEMBL
PRINTS TUBERIN UniProtKB/TrEMBL
PROSITE RAPGAP UniProtKB/TrEMBL
Superfamily-SCOP SSF111347 UniProtKB/TrEMBL
  SSF48371 UniProtKB/TrEMBL
UniProt A0A8C2VRI8 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-07-04 Tsc2  TSC complex subunit 2    tuberous sclerosis 2  Symbol and/or name change 5135510 APPROVED