TSC2 Gene

Alternative Names

TSC2
Tuberin
TSC4 Gene
TSC4

Length

41,556 bases

No. of Exons

No. of isoforms

Protein Name

Tuberin

Molecular Mass

200608 Da

Amino Acid Count

1807

Genomic Location

chr16:2,047,936-2,089,491

Gene Map Locus

16p13.3

Description

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000548.5:c.1754G>A	United Arab Emirates	NC_000016.10:g.2070493G>A	Likely Benign, Uncertain Significance	Uncertain Significance		NG_005895.1:g.26188G>A; NM_000548.5:c.1754G>A; NP_000539.2:p.Arg585His	397515063	65084
NM_000548.5:c.1832G>A	Lebanon	chr16:2070571	Pathogenic	Pathogenic	Tuberous Sclerosis 2	NG_005895.1:g.26266G>A; NM_000548.5:c.1832G>A; NP_000539.2:p.Arg611Gln	28934872	12397
NM_000548.5:c.2834A>G	Lebanon	chr16:2076582	Benign	Uncertain Significance	Breast Cancer	NG_005895.1:g.32277A>G; NM_000548.5:c.2834A>G ; NP_000539.2:p.Lys945Arg	886051791	318323

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External Links

https://medlineplus.gov/genetics/gene/tsc2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=TSC2

Contributors

Asha Deepthi: 13.07.2022
Pratibha Nair: 28.04.2020

Edit History

Asha Deepthi: 13.07.2022
Pratibha Nair: 13.09.2020
Pratibha Nair: 28.04.2020

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