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Ebp Gene Detail
Summary
  • Symbol
    Ebp
  • Name
    EBP cholestenol delta-isomerase
  • Synonyms
    mSI, Pabp, phenylalkylamine Ca2+ antagonist (emopamil) binding protein
  • Feature Type
    protein coding gene
  • IDs
    MGI:107822
    NCBI Gene: 13595
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:8051568-8059751 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.70 cM
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    223 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107822
 protein coding gene ChrX:8051568-8059751 (-)
129S1/SvImJ ENSMUSG00200032130
 protein coding gene ChrX:2752991-2761179 (-)
A/J ENSMUSG00195040507
 protein coding gene ChrX:2775876-2784061 (-)
AKR/J ENSMUSG00220029465
 protein coding gene ChrX:2763660-2771840 (-)
BALB/cJ ENSMUSG00180026267
 protein coding gene ChrX:2773653-2781841 (-)
C3H/HeJ ENSMUSG00175032982
 protein coding gene ChrX:2787549-2795731 (-)
C57BL/6NJ ENSMUSG00215039948
 protein coding gene ChrX:3451349-3459534 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032916
 protein coding gene ChrX:2332837-2341512 (-)
CAST/EiJ ENSTCUG00005031494
 protein coding gene ChrX:2722887-2731095 (-)
CBA/J ENSMUSG00210037300
 protein coding gene ChrX:2804411-2812594 (-)
DBA/2J ENSMUSG00185028910
 protein coding gene ChrX:9421536-9429720 (-)
FVB/NJ ENSMUSG00205019445
 protein coding gene ChrX:2798385-2806567 (-)
JF1/MsJ ENSUMUG00000035015
 protein coding gene ChrX:23315425-23323611 (-)
LP/J ENSMUSG00230030331
 protein coding gene ChrX:13941798-13949983 (-)
NOD/ShiLtJ ENSMUSG00190029883
 protein coding gene ChrX:2778419-2786603 (-)
NZO/HlLtJ ENSMUSG00225044462
 protein coding gene ChrX:19207453-19215637 (-)
PWK/PhJ ENSLUMG00010032148
 protein coding gene ChrX:2771213-2779419 (-)
SPRET/EiJ ENSMSPG00010021238
 protein coding gene ChrX:2811336-2819574 (-)
WSB/EiJ ENSIUOG00005030297
 protein coding gene ChrX:15741868-15750054 (+)



Homology
more
  • Human Ortholog
    EBP, EBP cholestenol delta-isomerase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EBP, EBP cholestenol delta-isomerase
  • Synonyms
    CDPX2, CHO2, CPX, CPXD, D8D7I, MEND
  • Links
    NCBI Gene ID: 10682
    UniProt: Q15125

  • Chr Location
    Xp11.23; chrX:48521089-48528716 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ebp mouse models; 3 with human EBP associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 3 genetic backgrounds
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
A radiation induced mutation is prenatal lethal in males and causes both pre- and postnatal loss in heterozygous females. Moderately affected adult females show slight coat striping while severely affected females are often smaller with skin scarring resulting in bald patches on the coat and tail.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    58
  • GO References
    15
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    644
  • Tissues
    5
  • cDNA Data
    96
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13595 NCBI Gene Model | MGI Sequence Detail 8184 C57BL/6J ±  kb
    transcript NM_007898 RefSeq | MGI Sequence Detail 1757 C57BL/6  
    polypeptide P70245 UniProt | EBI | MGI Sequence Detail 230 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 101
      Genomic 3
      cDNA 96
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14977, MGD-MRK-36399, MGI:2147856, MGI:98655
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 15
      Phenotypes 19
    • Earliest
      J:24380 Merrell K, et al., Genetic analyses of tattered, an X-linked dominant, developmental mouse mutation. Mamm Genome. 1995 Apr;6(4):291-4
    • Latest
      J:371709 Allen LB, et al., Amiodarone Alters Cholesterol Biosynthesis through Tissue-Dependent Inhibition of Emopamil Binding Protein and Dehydrocholesterol Reductase 24. ACS Chem Neurosci. 2020 May 20;11(10):1413-1423
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory