MBTPS2

GENERAL INFORMATION

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Gene name

MBTPS2

Gene description

Membrane-bound transcription factor peptidase, site 2

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most cell types of varying intensity.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA005494 , CAB009486
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

MBTPS2 (HGNC Symbol)

Synonyms

KFSD, S2P

Description

Membrane-bound transcription factor peptidase, site 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

X

Cytoband

p22.12

Chromosome location (bp)

21839636 - 21885424

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000012174 (version 78.38)

Entrez gene

51360

UniProt

O43462 (UniProt - Evidence at protein level)

neXtProt

NX_O43462

Antibodypedia

MBTPS2 antibodies


PROTEIN BROWSER

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ENST00000365779
 
ENST00000379484
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MBTPS2-001 ENSP00000368798
ENST00000379484
O43462
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Show » Show » 519 57.4 No 7
MBTPS2-002 ENSP00000368796
ENST00000365779
B9ZVQ3
Show all »
Show » Show » 330 36.4 No 5