TBC1 Domain-Containing Kinase

Alternative Names

TBCK

Length

275,085 bases

No. of Exons

No. of isoforms

Protein Name

TBC domain-containing protein kinase-like protein

Molecular Mass

100679 Da

Amino Acid Count

893

Genomic Location

chr4:106,041,598-106,316,682

Gene Map Locus

4q24

Description

This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001163435.3:c.1363A>T	Lebanon	NC_000004.12:g.106235355T>A	Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	NG_034057.3:g.86329A>T; NM_001163435.3:c.1363A>T; NP_001156907.2:p.Lys455Ter	376699648	225236
NM_001163435.3:c.1370del	Algeria		Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	NG_034057.3:g.86336del; NC_000004.12:g.106235355del; NM_001163435.3:c.1370del; NP_001156908.1:p.Asn457fs	746860249	225241
NM_001163435.3:c.1532G>A	Egypt		Likely Pathogenic, Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	NG_034057.3:g.88639G>A; NC_000004.12:g.106233045C>T; NM_001163435.3:c.1532G>A; NP_001156907.2:p.Arg511His	869320711	225237
NM_001163435.3:c.1897+1G>A	Saudi Arabia		Likely Pathogenic, Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	NG_034057.3:g.126967G>A; NC_000004.12:g.106194717C>T; NM_001163435.3:c.1897+1G>A	374319146	183338
NM_001163435.3:c.831_832insTA	Syria		Pathogenic	Pathogenic	Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3	NG_034057.3:g.74445_74446insTA; NC_000004.12:g.106247239_106247240insAT; NM_001163435.3:c.831_832insTA; NP_001277697.2:p.Pro106fs	869320769	225238

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=tbck

Contributors

Sayeeda Hana: 07.01.2021

Edit History

Pratibha Nair: 09.02.2023
Sayeeda Hana: 07.01.2021

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