MBTPS2 - membrane bound transcription factor peptidase, site 2 Gene

Also Known as S2P; IFAP; KFSD; OI19; KFSDX; OLMSX; BRESEK

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51360

About MBTPS2

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:21,839,617-21,885,423 (from NCBI)

This gene has 3 transcripts (splice variants), 183 orthologues and is associated with 10 phenotypes. Ubiquitous expression in adrenal (RPKM 6.7), ovary (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in Cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]

MBTPS2 Products (1)

mRNA	Protein	Name
NM_015884.4	NP_056968.1	membrane-bound transcription factor site-2 protease

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables metalloendopeptidase activity	EXP EXP: Inferred from Experiment	11163209	GOA
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	11163209	GOA
enables transcription regulator activator activity	IGI IGI: Inferred from genetic interaction	11163209	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in bone maturation	IMP IMP: Inferred from mutant phenotype	27380894	GOA
involved in membrane protein intracellular domain proteolysis	IGI IGI: Inferred from genetic interaction	11163209	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	11163209	GOA
involved in protein maturation	EXP EXP: Inferred from Experiment	11163209	GOA
involved in protein maturation	IDA IDA: Inferred from direct assay	11163209	GOA
involved in response to endoplasmic reticulum stress	IGI IGI: Inferred from genetic interaction	11163209	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19361614	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MBTPS2 Protein Structure

Peptidase_M50

0
100
200
300
400
519 a.a.

Protein Preferred Names	Protein Names
membrane-bound transcription factor site-2 protease	SREBPs intramembrane protease

Related Diseases

Diseases	Alias
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ifap Syndrome With Or Without Bresheck Syndrome IFAP1 Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia Ichthyosis Follicularis Atrichia Photophobia Syndrome Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1 Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 1 Ifap Syndrome 1 Ifap Syndrome 1 With Or Without Bresheck Syndrome Bresek Syndrome Bresheck Syndrome Ichthyosis Follicularis-Atrichia-Photophobia Syndrome Ifap Syndrome With/Without Bresheck Syndrome Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
Olmsted Syndrome, X-Linked	OLMSX Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked Ppkmx X-Linked Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques X-Linked Olmsted Syndrome Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques, X-Linked
Keratosis Follicularis Spinulosa Decalvans, X-Linked	KFSDX Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi X-Linked Keratosis Follicularis Spinulosa Decalvans Keratosis Follicularis Spinulosa Decalvans X-Linked Siemens-1 Syndrome
Osteogenesis Imperfecta, Type Xix	OI19 Osteogenesis Imperfecta Type 19 Osteogenesis Imperfecta Type Xix Osteogenesis Imperfecta, Type 19 Osteogenesis Imperfecta 19
Keratosis Follicularis Spinulosa Decalvans	Kfsd Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi Keratosis Follicularis Spinulosa Decalvans, X-Linked Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Ifap Syndrome Ichthyosis Follicularis-Atrichia-Photophobia Syndrome
Ichthyosis Follicularis Atrichia Photophobia Syndrome	Ifap Syndrome
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Keratosis	Actinic Keratosis Hyperkeratosis
Alopecia
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Corneal Degeneration	Degenerative Corneal Opacity
Keratosis Pilaris Atrophicans	KPA Burnett Schwartz Berberian Syndrome
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Cicatricial Lagophthalmos
Blepharitis
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Angular Cheilitis	Cheilosis Angular Cheilosis Angular Stomatitis Commissural Cheilitis
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Megacolon	Dilatation Of Colon
Punctate Palmoplantar Keratoderma	Punctate Palmoplantar Hyperkeratosis Punctate Keratosis Palmoplantaris Punctate Ppk
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans KFSD
Alopecia-Mental Retardation Syndrome
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Punctate Epithelial Keratoconjunctivitis	Punctate Keratitis Thygeson Superficial Punctate Keratitis Thygeson'S Superficial Punctate Keratitis Thygeson Superficial Punctate Keratopathy Punctate Epithelial Keratitis
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
Darier-White Disease	Keratosis Follicularis Darier Disease Darier'S Disease DAR DD Darier White Disease Darier Disease Acral Hemorrhagic Type Darier Disease Segmental Darier Disease, Acral Hemorrhagic Type Darier Disease, Segmental
Scoliosis
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08199	MBTPS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MBTPS2	RGD	RGD:1566171
Mus musculus	MBTPS2	MGD	MGI:2444506
Canis familiaris	MBTPS2	VGNC	VGNC:43065
Bos taurus	MBTPS2	VGNC	VGNC:31292
Felis catus	MBTPS2	VGNC	VGNC:63409