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

Alliance (1)
Ensembl(GRCz11):ENSDARG00000103125 (1)

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 6 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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

Human Disease	Fish	Conditions	Citations
anxiety disorder	tsc2^vu242/vu242	standard conditions	Kedra et al., 2020
tuberous sclerosis	tsc2^vu242/vu242 (AB)	standard conditions	Kim et al., 2011
tuberous sclerosis	tsc2^vu242/vu242	standard conditions	Kedra et al., 2020
tuberous sclerosis	tsc2^vu242/vu242	control	Serra et al., 2019
tuberous sclerosis 2	tsc2^vu242/vu242	standard conditions	Scheldeman et al., 2017

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000331	Rap/Ran-GAP domain
Domain	IPR018515	Tuberin-type domain
Domain	IPR024584	Tuberin, N-terminal
Family	IPR003913	Tuberin
Family	IPR027107	Tuberin/Ral GTPase-activating protein subunit alpha
Homologous_superfamily	IPR011989	Armadillo-like helical
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-like helical	Armadillo-type fold	HEAT, type 2	Rap/Ran-GAP domain	Rap/Ran-GAP superfamily	Tuberin	Tuberin, N-terminal	Tuberin/Ral GTPase-activating protein subunit alpha	Tuberin-type domain
UniProtKB:A0A0G2KHX4 InterPro	1674

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	tsc2		Rabbit	IHC	Cell Signaling Technology, Inc.	3

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations