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:48380164-48387104 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EBP

Alleles and phenotypes

All alleles(41) : Targeted(1) Gene trapped(38) Spontaneous(1) Radiation induced(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)   

Gene Ontology (GO) classifications

All GO classifications: (22 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 Type	Results
RNA in situ	43
Northern blot	4

cDNA source data(94)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(99) Genomic(3) cDNA(94) 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 Knockout Project Status	Ebp

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018119	VEGA Gene Model | MGI Sequence Detail	8184	C57BL/6J
transcript	OTTMUST00000043741	VEGA | MGI Sequence Detail	1743	Not Applicable
polypeptide	OTTMUSP00000019639	VEGA | MGI Sequence Detail	230	Not Applicable

All sequences(29) RefSeq(2) UniProt(2)

Polymorphisms

PCR(1) : SNPs(32 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-14977, MGD-MRK-36399, MGI:2147856, MGI:98655