ZFIN ID: ZDB-GENE-030131-2702
Gene Name: TSC complex subunit 2
Gene Symbol: tsc2    Nomenclature History

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Previous Names: fc16b02, tuberin (1), wu:fc16b02

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(Including Attributions)
Gene 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. Is expressed in several structures, including brain; cardiovascular system; head; immature eye; and intestine. 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. Orthologous to human TSC2 (TSC complex subunit 2).
Genome Resources: Alliance (1),  Ensembl(GRCz11):ENSDARG00000103125 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
muz111 Point Mutation Unknown Premature Stop ENU
vu242 Point Mutation Unknown Premature Stop ENU
zko1086a Indel Unknown Unknown CRISPR
zko1086b Small Deletion Unknown Unknown CRISPR
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
CRISPR1-tsc2 1
MO1-tsc2 N/A 1
MO2-tsc2 N/A 1
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
GENE ONTOLOGY
Ontology GO Term
Biological Process intestinal epithelial cell differentiation (more)
Cellular Component nucleus (more)
Molecular Function GTPase activator activity (more)
GO Terms (all 13)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS No data available
INTERACTIONS AND PATHWAYS
ANTIBODIES
Name Type Isotype Host Organism Assay Source Publications
Ab3-tsc2 polyclonal Rabbit IHC Cell Signaling Technology, Inc.
3
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM tsc2 No data available
MARKER RELATIONSHIPS
tsc2 Encodes: [EST] fc16b02
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA GenBank:EB860271 (1) 708 nt
Polypeptide UniProtKB:A0A286Y892 (1) 1666 aa
Sequence Information (all 4)
ORTHOLOGY for tsc2 ( Chr: 1 )
CITATIONS (32)