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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

HCOP human homology predictions: EBP
Protein SuperFamily: emopamil-binding protein
Gene Tree: Ebp

Human
homologs
EBP, emopamil binding protein (sterol isomerase)
Orthology source: HomoloGene, HGNC

IDs:
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.p2

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 in Mice Using Ebp (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ebp interacts with 38 markers (Mir23b, Mir29b-1, Mir29b-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (2 records)
Data Summary: Results (47)    Tissues (5)    Images (21)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 43
Northern blot 4
cDNA source data(95)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ebp    NEW 
Molecular
reagents
All nucleic(100) Genomic(3) cDNA(95) Primer pair(2)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000018119 (Evidence)
Ensembl Gene Model ENSMUSG00000031168 (Evidence)
Entrez Gene 13595 (Evidence)
UniGene 27183
DFCI TC1575756
DoTS DT.534521
NIA Mouse Gene Index U039243
EC 5.3.3.5
Consensus CDS Project CCDS29989.1
International Mouse Phenotyping Consortium Status Ebp
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(30) 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(51)
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
06/23/2015
MGI 5.22
The Jackson Laboratory