MBTPS2 Gene (Protein Coding)

Membrane Bound Transcription Factor Peptidase, Site 2

GC0XP021839
GIFtS:
44
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 li... See more...

Aliases for MBTPS2 Gene

Aliases for MBTPS2 Gene

  • Membrane Bound Transcription Factor Peptidase, Site 2 2 3 5
  • Sterol Regulatory Element-Binding Proteins Intramembrane Protease 3 4
  • Membrane-Bound Transcription Factor Protease, Site 2 2 3
  • Membrane-Bound Transcription Factor Site-2 Protease 3 4
  • Keratosis Follicularis Spinulosa Decalvans 2 3
  • SREBPs Intramembrane Protease 3 4
  • Endopeptidase S2P 3 4
  • Site-2 Protease 2 3
  • EC 3.4.24.85 4 54
  • S2P 3 4
  • BRESEK 3
  • KFSDX 3
  • OLMSX 3
  • IFAP 3
  • OI19 3
  • KFSD 3

External Ids for MBTPS2 Gene

Previous HGNC Symbols for MBTPS2 Gene

  • KFSD

Previous GeneCards Identifiers for MBTPS2 Gene

  • GC0XP020460
  • GC0XP021059
  • GC0XP021219
  • GC0XP021617
  • GC0XP021767
  • GC0XP019598
  • GC0XP021857

Summaries for MBTPS2 Gene

Entrez Gene Summary for MBTPS2 Gene

  • 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]

GeneCards Summary for MBTPS2 Gene

MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2) is a Protein Coding gene. Diseases associated with MBTPS2 include Ifap Syndrome With Or Without Bresheck Syndrome and Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked. Among its related pathways are Chks in Checkpoint Regulation and Metabolism. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot Summary for MBTPS2 Gene

  • Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation (PubMed:27380894).

Additional gene information for MBTPS2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBTPS2 Gene

Genomics for MBTPS2 Gene

GeneHancer (GH) Regulatory Elements for MBTPS2 Gene

Promoters and enhancers for MBTPS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ021838 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.5 463 2.4 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 LCORL RBPJ ENSG00000275681 MBTPS2 YY2
GH0XJ021971 Enhancer 0.6 ENCODE 12.8 +133.8 133763 4 TCF7L2 IKZF1 CTBP1 ZNF585B DPF2 ZNF217 CUX1 GATA3 ELF1 JUND SMS MBTPS2 YY2 piR-55194-429 piR-61945-525
GH0XJ021929 Enhancer 0.6 FANTOM5 10.9 +90.5 90464 0.2 ZSCAN4 ZNF148 ZNF662 ZEB1 ZIK1 HIC1 FEZF1 ATF2 ZNF398 lnc-SMS-4 YY2 MBTPS2 lnc-SMS-3
GH0XJ021989 Enhancer 1.2 FANTOM5 Ensembl ENCODE 4.5 +154.2 154163 11 POLR2A ETV6 MAX TEAD4 MAFK CBFA2T2 MLLT1 ZNF687 CREM TRIM24 YY2 SMS MBTPS2 piR-55194-429 piR-61945-525
GH0XJ021958 Enhancer 0.8 Ensembl ENCODE 5.8 +121.8 121763 7.8 ZNF362 HLF TEAD4 RFX1 GATAD2A RXRB SOX13 ZBTB48 HDGF TCF12 SMS YY2 MBTPS2 piR-61945-525 piR-55194-429
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBTPS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MBTPS2 gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • IRF-1
  • NRSF form 1
  • NRSF form 2
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for MBTPS2 Gene

Genomic Locations for MBTPS2 Gene
chrX:21,839,538-21,885,423
(GRCh38/hg38)
Size:
45,886 bases
Orientation:
Plus strand
chrX:21,857,656-21,903,542
(GRCh37/hg19)
Size:
45,887 bases
Orientation:
Plus strand

Genomic View for MBTPS2 Gene

Genes around MBTPS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBTPS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBTPS2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MBTPS2 Gene

Proteins for MBTPS2 Gene

Products:

  1. Antibody
  2. Protein
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  • Protein details for MBTPS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43462-MBTP2_HUMAN
    Recommended name:
    Membrane-bound transcription factor site-2 protease
    Protein Accession:
    O43462
    Secondary Accessions:
    • Q9UM70
    • Q9UMD3

    Protein attributes for MBTPS2 Gene

    Size:
    519 amino acids
    Molecular mass:
    57444 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for MBTPS2 Gene

Protein Expression for MBTPS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MBTPS2 Gene

O43462:
  • NGLSISPFHIRWQT
  • DLVLKSSVYFKHSYEDWLE
  • LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLV
  • LALLGILAL
  • FNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGK

Post-translational modifications for MBTPS2 Gene

  • Glycosylation at Asn337
  • Modification sites at PhosphoSitePlus

Other Protein References for MBTPS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MBTPS2 Gene

Gene Families for MBTPS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for MBTPS2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBTPS2 Gene

GenScript: Design optimal peptide antigens:
  • Sterol regulatory element-binding proteins intramembrane protease (MBTP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43462

UniProtKB/Swiss-Prot:

MBTP2_HUMAN :
  • Belongs to the peptidase M50A family.
Family:
  • Belongs to the peptidase M50A family.
genes like me logo Genes that share domains with MBTPS2: view

Function for MBTPS2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MBTPS2 Gene

UniProtKB/Swiss-Prot Function:
Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation (PubMed:27380894).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cleaves several transcription factors that are type-2 transmembrane proteins within membrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP) -1, SREBP-2 and forms of the transcriptional activator ATF6. SREBP-2 is cleaved at the site 477-DRSRILL- -CVLTFLCLSFNPLTSLLQWGGA-505. The residues Asn-Pro, 11 residues distal to the site of cleavage in the membrane-spanning domain, are important for cleavage by S2P endopeptidase. Replacement of either of these residues does not prevent cleavage, but there is no cleavage if both of these residues are replaced.; EC=3.4.24.85;.

Enzyme Numbers (IUBMB) for MBTPS2 Gene

Gene Ontology (GO) - Molecular Function for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IBA,IEA 21873635
GO:0005515 protein binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MBTPS2: view
genes like me logo Genes that share phenotypes with MBTPS2: view

Human Phenotype Ontology for MBTPS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MBTPS2

CRISPR Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MBTPS2 Gene

Localization for MBTPS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBTPS2 Gene

Membrane; Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBTPS2 gene
Compartment Confidence
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 3
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IDA,IBA 19361614
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MBTPS2: view

Pathways & Interactions for MBTPS2 Gene

genes like me logo Genes that share pathways with MBTPS2: view

Pathways by source for MBTPS2 Gene

1 KEGG pathway for MBTPS2 Gene
1 Qiagen pathway for MBTPS2 Gene
  • SREBP Proteolysis
1 Cell Signaling Technology pathway for MBTPS2 Gene

SIGNOR curated interactions for MBTPS2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006629 lipid metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA,TAS --
GO:0030968 endoplasmic reticulum unfolded protein response TAS --
genes like me logo Genes that share ontologies with MBTPS2: view

Drugs & Compounds for MBTPS2 Gene

Products:

  1. Drug

(2) Drugs for MBTPS2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MBTPS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MBTPS2: view

Transcripts for MBTPS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MBTPS2 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(125) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBTPS2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1:
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for MBTPS2 Gene

GeneLoc Exon Structure for
MBTPS2
ECgene alternative splicing isoforms for
MBTPS2

Expression for MBTPS2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBTPS2 Gene

mRNA expression in normal human tissues for MBTPS2 Gene
mRNA expression by BioGPS for MBTPS2 GenemRNA expression by GTEx for MBTPS2 Gene

Protein differential expression in normal tissues from HIPED for MBTPS2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MBTPS2 Gene



Protein tissue co-expression partners for MBTPS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MBTPS2 Gene:

MBTPS2

SOURCE GeneReport for Unigene cluster for MBTPS2 Gene:

Hs.443490

mRNA Expression by UniProt/SwissProt for MBTPS2 Gene:

O43462-MBTP2_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for MBTPS2 Gene

  • Nervous system(4.3)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MBTPS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • placenta
  • testicle
  • ureter
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MBTPS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MBTPS2 Gene

Orthologs for MBTPS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MBTPS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MBTPS2 33 32
  • 98.59 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MBTPS2 33 32
  • 93.9 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MBTPS2 33 32
  • 93.15 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mbtps2 17 33 32
  • 92.23 (n)
rat
(Rattus norvegicus)
 Mammalia Mbtps2 32
  • 91.97 (n)
oppossum
(Monodelphis domestica)
 Mammalia MBTPS2 33
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MBTPS2 33 32
  • 73.48 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MBTPS2 33
  • 71 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mbtps2 32
  • 68.49 (n)
Str.20122 32
zebrafish
(Danio rerio)
 Actinopterygii mbtps2 33 32
  • 63.43 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta S2P 33 34 32
  • 44.94 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011819 32
  • 41.53 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y56A3A.2 33 32
  • 45.75 (n)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT4G20310 32
  • 42.68 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 37 (a)
 OneToOne
Cin.11616 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.11616 32
Species where no ortholog for MBTPS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MBTPS2 Gene

ENSEMBL:
Gene Tree for MBTPS2 (if available)
TreeFam:
Gene Tree for MBTPS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MBTPS2: view image

Paralogs for MBTPS2 Gene

No data available for Paralogs for MBTPS2 Gene

Variants for MBTPS2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MBTPS2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs122468176 pathogenic, IFAP syndrome with or without BRESHECK syndrome, IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205] 21,868,476(+) A/T coding_sequence_variant, missense_variant
rs122468177 pathogenic, IFAP syndrome with or without BRESHECK syndrome, IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205] 21,845,207(+) G/A coding_sequence_variant, missense_variant
rs122468178 pathogenic, IFAP syndrome with or without BRESHECK syndrome, not provided, IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205] 21,880,921(+) G/A coding_sequence_variant, missense_variant
rs122468179 pathogenic, IFAP syndrome with or without BRESHECK syndrome, IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205] 21,882,519(+) T/C coding_sequence_variant, missense_variant
rs122468180 pathogenic, IFAP syndrome with or without BRESHECK syndrome, IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205] 21,868,473(+) G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MBTPS2 Gene

Variant ID Type Subtype PubMed ID
esv2740003 CNV deletion 23290073
nsv476830 CNV novel sequence insertion 20440878

Variation tolerance for MBTPS2 Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBTPS2 Gene

Human Gene Mutation Database (HGMD)
MBTPS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBTPS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBTPS2 Gene

Disorders for MBTPS2 Gene

MalaCards: The human disease database

(32) MalaCards diseases for MBTPS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ifap syndrome with or without bresheck syndrome
  • 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
palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked
  • olmsted syndrome, x-linked; olmsx
osteogenesis imperfecta, type xix
  • oi19
keratosis follicularis spinulosa decalvans, x-linked
  • kfsdx
keratosis follicularis spinulosa decalvans
  • keratosis follicularis spinulosa decalvans, x-linked
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MBTP2_HUMAN
  • IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]: A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. {ECO:0000269 PubMed:19361614}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Olmsted syndrome, X-linked (OLMSX) [MIM:300918]: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO:0000269 PubMed:22931912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. {ECO:0000269 PubMed:20672378}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 19 (OI19) [MIM:301014]: An X-linked form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia. {ECO:0000269 PubMed:27380894}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MBTPS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MBTPS2: view

No data available for Genatlas for MBTPS2 Gene

Publications for MBTPS2 Gene

  1. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. (PMID: 20672378) Aten E … den Dunnen JT (Human mutation 2010) 2 3 4 56
  2. Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease. (PMID: 10805775) Ye J … Brown MS (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 23 56
  3. Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. (PMID: 9659902) Rawson RB … Goldstein JL (Molecular cell 1997) 2 3 4 56
  4. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. (PMID: 27380894) Lindert U … Shotelersuk V (Nature communications 2016) 3 4 56
  5. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (PMID: 22931912) Haghighi A … Kelsell DP (The Journal of investigative dermatology 2013) 3 4 56

ExternalLinks

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