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Ebp
Gene Detail
 Symbol
Name
ID
Ebp
phenylalkylamine Ca2+ antagonist (emopamil) binding protein
MGI:107822
Synonyms mSI, Pabp
Feature Type protein coding gene
Genetic Map
Chromosome X
3.70 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
ChrX:8185329-8193512 bp, - strand
From VEGA annotation of GRCm38

  8184 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4798  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: emopamil-binding protein
Gene Tree: Ebp

Human
homologs
Human Homolog EBP, emopamil binding protein (sterol isomerase)
NCBI Gene ID 10682
neXtProt AC  NX_Q15125
Human Synonyms  CDPX2, CHO2, CPX, CPXD
Human Chr (Location)  Xp11.23-p11.22; chrX:48521776-48528716 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human EBP
Mutations,
alleles, and
phenotypes
All mutations/alleles(41) : Gene trapped(38) Radiation induced(1) Spontaneous(1) Targeted(1)
 
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.
 
Human Diseases Modeled Using Mouse Ebp (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Ebp interacts with 38 markers (Mir23b, Mir29b-1, Mir29b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process cholesterol biosynthetic process, cholesterol metabolic process, ...
Component endoplasmic reticulum, endoplasmic reticulum membrane, ...
Function C-8 sterol isomerase activity, cholestenol delta-isomerase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (47)    Tissues (5)    Images (21)
Theiler Stages: 20, 23
Assay TypeResults
RNA in situ 43
Northern blot 4
cDNA source data(95)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(100) Genomic(3) cDNA(95) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000018119 (Evidence)
Ensembl Gene ModelENSMUSG00000031168 (Evidence)
Entrez Gene13595 (Evidence)
UniGene27183
DFCITC1575756
DoTSDT.534521
NIA Mouse Gene IndexU039243
EC5.3.3.5
Consensus CDS ProjectCCDS29989.1
International Mouse Knockout Project StatusEbp
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018119 VEGA Gene Model | MGI Sequence Detail 8184 C57BL/6J ±  kb
transcript OTTMUST00000043741 VEGA | MGI Sequence Detail 1743 Not Applicable 
polypeptide OTTMUSP00000019639 VEGA | MGI Sequence Detail 230 Not Applicable 

For the selected sequences
All sequences(29) RefSeq(2) UniProt(2)
Polymorphisms PCR(1) : SNPs within 2kb(36 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007905 Emopamil-binding
Protein Ontology PR:000006870 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
References (Earliest) J:13907 Cattanach BM, A new X-linked mutation, Td. Mouse News Lett. 1982;66:61-2
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(52)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-14977, MGD-MRK-36399, MGI:2147856, MGI:98655

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory