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Protein Coding Gene : Tsc2 TSC complex subunit 2

Primary Identifier  MGI:102548 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  22084
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables 14-3-3 protein binding activity and GTPase activator activity. Involved in several processes, including anoikis; chemical synaptic transmission; and negative regulation of TORC1 signaling. Acts upstream of or within several processes, including intracellular protein transport; negative regulation of lymphocyte proliferation; and regulation of signal transduction. Located in cytoplasm. Part of TSC1-TSC2 complex. Is active in lysosomal membrane and synapse. Is expressed in several structures, including aorta; central nervous system; genitourinary system; hemolymphoid system gland; and retina. Used to study autism spectrum disorder; tuberous sclerosis; and uterine fibroid. 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).
PHENOTYPE: Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas. [provided by MGI curators]
  • synonyms:
  • Tsc2,
  • MGD-MRK-19397,
  • Nafld,
  • tuberin,
  • tuberous sclerosis 2,
  • TSC complex subunit 2

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

18 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For