Hs01296172_cn

• Gene Symbol: MBTPS2
• Assay Reference Genome Location: Chr.X:21843250 on build GRCh38
• Cytoband: Xp22.12

Target Gene Details

• Entrez Gene ID: 51360
• Gene Name: membrane bound transcription factor peptidase, site 2
• Gene Aliases: BRESEK, IFAP, KFSD, KFSDX, OLMSX, S2P
• Location: Chr.X:21839538-21885423 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MBTPS2	NM_015884.3	2	353	NP_056968.1
	AF019612.1	2	255	AAC51937.1
	AK292933.1	2	260
	AK312474.1	2	186
	BX489533.1	2	354

More Information

Additional Information:

• Set Membership: Intragenic, Exonic, non-DGV Variation, Validated

Panther Classification:

Molecular Function -

metalloprotease, protease, protein modifying enzyme

Gene Ontology Categories:

Process(es)

cholesterol metabolic process
membrane protein intracellular domain proteolysis
response to endoplasmic reticulum stress
ATF6-mediated unfolded protein response
positive regulation of sequence-specific DNA binding transcription factor activity
positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

Function(s)

metalloendopeptidase activity
metallopeptidase activity
metal ion binding