MBTPS2 - membrane bound transcription factor peptidase, site 2 Gene

Homo sapiens

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

Gene ID: 51360 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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