Seroatlas · Human Serome Atlas

MBTPS2

Membrane-bound transcription factor site-2 protease

Also known as: KFSD, MBTP2_HUMAN, S2P

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O43462
Gene: MBTPS2
Ensembl: ENSG00000012174
Chromosome: X
Canonical length: 519 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins
Subcellular location: Nucleoplasm,Mitochondria,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

519 residues, UniProt reviewed canonical sequence.

>O43462|MBTPS2
     1  MIPVSLVVVV VGGWTVVYLT DLVLKSSVYF KHSYEDWLEN NGLSISPFHI RWQTAVFNRA
    61  FYSWGRRKAR MLYQWFNFGM VFGVIAMFSS FFLLGKTLMQ TLAQMMADSP SSYSSSSSSS
   121  SSSSSSSSSS SSSSSSLHNE QVLQVVVPGI NLPVNQLTYF FTAVLISGVV HEIGHGIAAI
   181  REQVRFNGFG IFLFIIYPGA FVDLFTTHLQ LISPVQQLRI FCAGIWHNFV LALLGILALV
   241  LLPVILLPFY YTGVGVLITE VAEDSPAIGP RGLFVGDLVT HLQDCPVTNV QDWNECLDTI
   301  AYEPQIGYCI SASTLQQLSF PVRAYKRLDG STECCNNHSL TDVCFSYRNN FNKRLHTCLP
   361  ARKAVEATQV CRTNKDCKKS SSSSFCIIPS LETHTRLIKV KHPPQIDMLY VGHPLHLHYT
   421  VSITSFIPRF NFLSIDLPVV VETFVKYLIS LSGALAIVNA VPCFALDGQW ILNSFLDATL
   481  TSVIGDNDVK DLIGFFILLG GSVLLAANVT LGLWMVTAR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBTPS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 18 nTPM

Expression across tissuesHPA

Tissue

liver: 18 nTPM
ovary: 11 nTPM
placenta: 11 nTPM
parathyroid gland: 10 nTPM
adrenal gland: 10 nTPM
prostate: 9.8 nTPM

Single-cell type

myonuclei: 79 nCPM
adrenal cortex cells: 51 nCPM
leydig cells: 48 nCPM
prostatic glandular cells: 43 nCPM
corticotrophs: 41 nCPM
peritubular myoid cells: 40 nCPM

Immune cell

myeloid DC: 3.6 nTPM
T-reg: 3.2 nTPM
naive CD8 T-cell: 2.6 nTPM
NK-cell: 2.6 nTPM
non-classical monocyte: 2.6 nTPM
intermediate monocyte: 2.5 nTPM

Brain region

cerebellum: 21 nTPM
white matter: 17 nTPM
pons: 15 nTPM
choroid plexus: 14 nTPM
medulla oblongata: 14 nTPM
cerebral cortex: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MBTPS2.

Disease | AllUniProt

Conditions MBTPS2 is implicated in, by any mechanism.

IFAP syndrome 1, with or without Bresheck syndrome (IFAP1) MIM:308205
Olmsted syndrome, X-linked (OLMSX) MIM:300918
Keratosis follicularis spinulosa decalvans X-linked (KFSDX) MIM:308800
Osteogenesis imperfecta 19 (OI19) MIM:301014

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 358 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

IFAP syndrome 1, with or without BRESHECK syndrome
Osteogenesis imperfecta, type 19
Keratosis follicularis spinulosa decalvans, X-linked
Olmsted syndrome, X-linked
MBTPS2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.17
gnomAD pLI: 1
gnomAD missense Z: 2.09
DepMap mean gene effect: -0.49
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

PDZ superfamily
Membrane-bound transcription factor site-2 protease
Peptidase M50
Peptidase family M50

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MBTPS2 as an antibody target. Whether an autoantibody or antibody against MBTPS2 could matter depends on whether native MBTPS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBTPS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MBTPS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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