Gene table of MBTPS2 : membrane bound transcription factor peptidase, site 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MBTPS2	OMIM link	Number of associated genes	genes
308205	IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MBTPS2
300918	PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MBTPS2
308800	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MBTPS2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Protein processing in endoplasmic reticulum	hsa04141	5.35

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Unfolded Protein Response (UPR)	R-HSA-381119	6.56
ATF6-alpha activates chaperones	R-HSA-381033	9.4
Regulation of cholesterol biosynthesis by SREBP (SREBF)	R-HSA-1655829	7.23
Metabolism of proteins	R-HSA-392499	3.41
Metabolism	R-HSA-1430728	2.34
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
endopeptidase activity	GO:0004175	3.63
metalloendopeptidase activity	GO:0004222	5.02
cation binding	GO:0043169	1.4
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
binding	GO:0005488	0.18
peptidase activity	GO:0008233	3.23
metal ion binding	GO:0046872	1.41
metallopeptidase activity	GO:0008237	4.5