Gene

tsc2

ID
ZDB-GENE-030131-2702
Name
TSC complex subunit 2
Symbol
tsc2 Nomenclature History
Previous Names
  • fc16b02
  • tuberin (1)
  • wu:fc16b02
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to have GTPase activator activity. Involved in intestinal epithelial cell differentiation; negative regulation of TOR signaling; and regulation of action potential firing pattern. Predicted to localize to TSC1-TSC2 complex. Used to study tuberous sclerosis and tuberous sclerosis 2. Human ortholog(s) of this gene implicated in hepatic angiomyolipoma; lymphangioleiomyomatosis; medulloblastoma; tuberous sclerosis; and tuberous sclerosis 2. Is expressed in several structures, including brain; cardiovascular system; head; immature eye; and intestine. Orthologous to human TSC2 (TSC complex subunit 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tsc2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
lymphangioleiomyomatosis Alliance Lymphangioleiomyomatosis, somatic 606690
tuberous sclerosis 2 Alliance Tuberous sclerosis-2 613254
?Focal cortical dysplasia, type II, somatic 607341
Associated With tsc2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR018515 Tuberin-type domain
Domain IPR024584 Tuberin, N-terminal
Family IPR003913 Tuberin
Family IPR027107 Tuberin/Ral GTPase-activating protein subunit alpha
Homologous_superfamily IPR016024 Armadillo-type fold
Homologous_superfamily IPR035974 Rap/Ran-GAP superfamily
Repeat IPR021133 HEAT, type 2
Domain Details Per Protein
Protein Length Armadillo-type fold HEAT, type 2 Rap/Ran-GAP superfamily Tuberin Tuberin, N-terminal Tuberin/Ral GTPase-activating protein subunit alpha Tuberin-type domain
UniProtKB:A0A0G2KHX4
UniProtKB:A0A286Y892 1666
Transcripts
Genome Browsers
No data available
No data available
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab3-tsc2 polyclonal Rabbit
  • IHC
Cell Signaling Technology, Inc.
3
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations