tsc2 TSC complex subunit 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: tsc2provided by ZNC
Official Full Name: TSC complex subunit 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2702
See related: Ensembl:ENSDARG00000103125 AllianceGenome:ZFIN:ZDB-GENE-030131-2702
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: fc16b02; tuberin; wu:fc16b02
Summary: Predicted to enable GTPase activator activity. Acts upstream of or within intestinal epithelial cell differentiation; negative regulation of TOR signaling; and regulation of action potential firing pattern. Predicted to be located in nucleus. Predicted to be part of TSC1-TSC2 complex. Is expressed in several structures, including brain; cardiovascular system; digestive system; head; and immature eye. Used to study anxiety disorder; 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). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 1

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (54191422..54274861)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (53523470..53594697)

Chromosome 1 - NC_007112.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The lack of Tsc2 also delayed axonal development and caused aberrant tract fasciculation, corresponding to the abnormal expression of genes involved in axon navigation.
Title: TrkB hyperactivity contributes to brain dysconnectivity, epileptogenesis, and anxiety in zebrafish model of Tuberous Sclerosis Complex.
The gene expression profiles of WT and tsc2(+/-) larvae revealed 117 differentially expressed genes (DEGs), while between WT and tsc2(-/-) larvae and tsc2(+/-) and tsc2(-/-) larvae there were 1414 and 1079 DEGs, respectively. Pathway enrichment analysis from the WT and tsc2(-/-) DEGs, identified 14 enriched pathways from the up-regulated genes and 6 enriched pathways from the down-regulated genes.
Title: mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis.
This is the first report using an animal model to show interactions between tsc2, mTORC1 and p53 during tumorigenesis.
Title: Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish.
These results demonstrate a highly conserved role of tsc2 in zebrafish and establish a new animal model for studies of Tuberous sclerosis complex.
Title: Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin.

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General gene information

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Markers

fc16b02.y1 (e-PCR)
- UniSTS:192769

AI657677 (e-PCR)
- UniSTS:206102

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within intestinal epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of TOR signaling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of action potential firing pattern	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of TSC1-TSC2 complex	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tuberin

Names: tuberous sclerosis 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001328401.1 → NP_001315330.1 tuberin

Status: VALIDATED

Source sequence(s)

CABZ01043817, CABZ01043818, CABZ01113995, CABZ01113996, FO681319, FQ311887

UniProtKB/TrEMBL

A0A0G2KHX4, A0A8M1P934

Related

ENSDARP00000131915.1, ENSDART00000158948.2

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007112.7 Reference GRCz11 Primary Assembly

Range

54191422..54274861

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021475603.2 → XP_021331278.1 tuberin isoform X1

UniProtKB/TrEMBL

A0A8M9PW15

Conserved Domains (3) summary

pfam02145
Location:1594 → 1780

Rap_GAP; Rap/ran-GAP

pfam03542
Location:553 → 902

Tuberin

pfam11864
Location:54 → 469

DUF3384; Domain of unknown function (DUF3384)