Membrane-Bound Transcription Factor Protease, Site 2

Alternative Names

MBTPS2
Site-2 Protease
S2P

Length

424 45,887 bases

No. of Exons

Protein Name

Membrane-bound transcription factor site-2 protease

Molecular Mass

57444 Da

Amino Acid Count

519

Genomic Location

chrX:21,839,538-21,885

Gene Map Locus

Xp22.12

Description

The MBTPS2 gene codes for a membrane-embedded zinc metalloprotease, which is essential in development. The protein plays a major role in the signal protein activation involved in sterol control of transcription and the ER stress response.

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_015884.3:c.1424T>C	Lebanon	NC_000023.11:g.21882519T>C	Pathogenic	Pathogenic	IFAP Syndrome with or without Bresheck Syndrome	NG_012797.1:g.47982T>C; NM_015884.3:c.1424T>C; NP_056968.1:p.Phe475Ser	122468179	11405
NM_015884.3:c.1430A>T	Algeria	NC_000023.11:g.21882525A>T		Likely Pathogenic	IFAP Syndrome with or without Bresheck Syndrome	NG_012797.1:g.47988A>T; NM_015884.3:c.1430A>T; NP_056968.1:p.Asp477Val
NM_015884.3:c.1499G>A	Syria	NC_000023.11:g.21882594G>A		Likely Pathogenic	IFAP Syndrome with or without Bresheck Syndrome	NG_012797.1:g.48057G>A; NM_015884.3:c.1499G>A; NP_056968.1:p.Gly500Asp

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External Links

https://ghr.nlm.nih.gov/gene/MBTPS2 https://www.genecards.org/cgi-bin/carddisp.pl?gene=MBTPS2

Contributors

Pratibha Nair: 27.06.2021
Pratibha Nair: 04.07.2018

Edit History

Pratibha Nair: 27.06.2021
Pratibha Nair: 03.01.2019

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