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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0035543
 protein coding gene ChrX:2834407-2842428 (-)
A/J MGP_AJ_G0035520
 protein coding gene ChrX:2812355-2821294 (-)
AKR/J MGP_AKRJ_G0035453
 protein coding gene ChrX:2925522-2934399 (-)
BALB/cJ MGP_BALBcJ_G0035517
 protein coding gene ChrX:2806052-2814191 (-)
C3H/HeJ MGP_C3HHeJ_G0035225
 protein coding gene ChrX:2891646-2904089 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036041
 protein coding gene ChrX:2932521-2941066 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032916
 protein coding gene ChrX:2332837-2341512 (-)
CAST/EiJ MGP_CASTEiJ_G0034526
 protein coding gene ChrX:2777606-2785752 (-)
CBA/J MGP_CBAJ_G0035195
 protein coding gene ChrX:3084826-3092799 (-)
DBA/2J MGP_DBA2J_G0035352
 protein coding gene ChrX:2793167-2801409 (-)
FVB/NJ MGP_FVBNJ_G0035299
 protein coding gene ChrX:2760361-2770063 (-)
LP/J MGP_LPJ_G0035429
 protein coding gene ChrX:2854630-2863542 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035339
 protein coding gene ChrX:3028983-3037937 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036059
 protein coding gene ChrX:2814214-2823933 (-)
PWK/PhJ MGP_PWKPhJ_G0034226
 protein coding gene ChrX:2735886-2744481 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034065
 protein coding gene ChrX:2792686-2801553 (-)
WSB/EiJ MGP_WSBEiJ_G0034649
 protein coding gene ChrX:2819543-2827664 (-)



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, MEND
  • Links
    NCBI Gene ID: 10682
    neXtProt AC: NX_Q15125
    UniProt: Q15125

  • Chr Location
    Xp11.23; chrX:48521799-48528716 (+)  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
    17 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
    34
  • GO References
    12
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
    753
  • 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 ZRU/MplStud  
    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 55
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 12
      Phenotypes 17
    • 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:224387 Sisecioglu M, et al., A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo. J Lipid Res. 2015 Aug;56(8):1551-9
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory