Mbtps2 membrane-bound transcription factor peptidase, site 2 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 270669)
Source: NCBI Gene (ID 270669)
Symbol: Mbtps2
Full name: membrane-bound transcription factor peptidase, site 2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: 9630032G22Rik
Summary: Predicted to enable metalloendopeptidase activity. Predicted to be involved in several processes, including bone maturation; membrane protein intracellular domain proteolysis; and regulation of transcription, DNA-templated. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in cytoplasm. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and lung. Human ortholog(s) of this gene implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19. Orthologous to human MBTPS2 (membrane bound transcription factor peptidase, site 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 8.9), whole brain E14.5 (RPKM 7.1) and 26 other tissues
Orthologs: human
Gene size: 50894bp
Exon count: 11