Seroatlas · Human Serome Atlas

EBP

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Also known as: CDPX2, CHO2, CPX, CPXD, EBP_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q15125
Gene
EBP
Ensembl
ENSG00000147155
Chromosome
X
Canonical length
230 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
Subcellular location
Nuclear membrane,Endoplasmic reticulum

OverviewNCBI Gene

The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

230 residues, UniProt reviewed canonical sequence.

>Q15125|EBP
     1  MTTNAGPLHP YWPQHLRLDN FVPNDRPTWH ILAGLFSVTG VLVVTTWLLS GRAAVVPLGT
    61  WRRLSLCWFA VCGFIHLVIE GWFVLYYEDL LGDQAFLSQL WKEYAKGDSR YILGDNFTVC
   121  METITACLWG PLSLWVVIAF LRQHPLRFIL QLVVSVGQIY GDVLYFLTEH RDGFQHGELG
   181  HPLYFWFYFV FMNALWLVLP GVLVLDAVKH LTHAQSTLDA KATKAKSKKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EBP 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
4
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
307 nTPM

Expression across tissuesHPA

Tissue

  • liver: 307 nTPM
  • adrenal gland: 136 nTPM
  • esophagus: 82 nTPM
  • duodenum: 81 nTPM
  • rectum: 54 nTPM
  • small intestine: 51 nTPM

Single-cell type

  • brain inhibitory neurons: 15 nCPM
  • brain excitatory neurons: 14 nCPM
  • other brain neurons: 14 nCPM
  • parietal cells: 12 nCPM
  • proximal tubule cells: 11 nCPM
  • oligodendrocyte progenitor cells: 10 nCPM

Immune cell

  • gdT-cell: 130 nTPM
  • memory CD8 T-cell: 117 nTPM
  • plasmacytoid DC: 106 nTPM
  • MAIT T-cell: 105 nTPM
  • T-reg: 103 nTPM
  • naive CD8 T-cell: 100 nTPM

Brain region

  • pons: 35 nTPM
  • choroid plexus: 31 nTPM
  • medulla oblongata: 29 nTPM
  • hypothalamus: 24 nTPM
  • cerebellum: 23 nTPM
  • cerebral cortex: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EBP.

Disease | AllUniProt

Conditions EBP is implicated in, by any mechanism.

Disease | GeneticClinVar

80 pathogenic / likely-pathogenic of 254 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.34
gnomAD pLI
0.94
gnomAD missense Z
1.49
DepMap mean gene effect
0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

EBP 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 EBP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EBP. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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