Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10682
Gene name	EBP cholestenol delta-isomerase
Gene symbol	EBP
Synonyms (NCBI Gene)	CDPX2CHO2CPXCPXDMEND
Chromosome	X
Chromosome location	Xp11.23
Summary	The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is simil

Show/Hide all (47)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935174	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894792	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894793	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894794	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894795	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894798	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894799	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894800	G>A	Pathogenic	Coding sequence variant, missense variant
rs141925556	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs145509273	C>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587783599	G>T	Pathogenic	Missense variant, coding sequence variant
rs587783600	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783601	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783602	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783603	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783604	TCTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783605	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783606	T>A	Pathogenic	Splice donor variant
rs587783607	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783608	A>C,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587783609	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783610	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783611	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783612	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783613	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783614	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783615	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783616	T>G	Pathogenic	Stop gained, coding sequence variant
rs587783617	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783618	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783619	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs797045153	T>A	Pathogenic	Missense variant, coding sequence variant
rs797045542	->CTG	Likely-pathogenic	Inframe insertion, coding sequence variant
rs797045543	->T	Pathogenic	Frameshift variant, coding sequence variant
rs797045544	->GATA	Pathogenic	Stop gained, coding sequence variant
rs797045545	CATCACAGCTT>AG	Likely-pathogenic	Inframe indel, coding sequence variant
rs797045546	CCGCC>T	Pathogenic	Frameshift variant, coding sequence variant
rs797045547	->G	Pathogenic	Frameshift variant, coding sequence variant
rs878854358	C>A	Pathogenic	Stop gained, coding sequence variant
rs878854359	T>C	Pathogenic	Missense variant, coding sequence variant
rs886039345	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064796721	TCGTGACCACATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569479885	G>T	Pathogenic	Splice donor variant
rs1569479901	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569480016	->A	Pathogenic	Coding sequence variant, stop gained
rs1602090481	G>A	Pathogenic	Coding sequence variant, missense variant
rs1602091152	AG>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (94)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001061	hsa-miR-218-5p	qRT-PCRWestern blot	17998940
MIRT049085	hsa-miR-92a-3p	CLASH	23622248
MIRT042892	hsa-miR-324-3p	CLASH	23622248
MIRT040389	hsa-miR-615-3p	CLASH	23622248
MIRT951446	hsa-miR-1470	CLIP-seq
MIRT951447	hsa-miR-3684	CLIP-seq
MIRT951448	hsa-miR-376a	CLIP-seq
MIRT951449	hsa-miR-376b	CLIP-seq
MIRT951450	hsa-miR-377	CLIP-seq
MIRT951451	hsa-miR-4297	CLIP-seq
MIRT951452	hsa-miR-4300	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT951454	hsa-miR-4519	CLIP-seq
MIRT951455	hsa-miR-4530	CLIP-seq
MIRT951456	hsa-miR-4646-3p	CLIP-seq
MIRT951457	hsa-miR-4648	CLIP-seq
MIRT951458	hsa-miR-4654	CLIP-seq
MIRT951459	hsa-miR-4667-3p	CLIP-seq
MIRT951460	hsa-miR-4753-3p	CLIP-seq
MIRT951461	hsa-miR-4769-5p	CLIP-seq
MIRT951462	hsa-miR-515-3p	CLIP-seq
MIRT951463	hsa-miR-519e	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT951465	hsa-miR-643	CLIP-seq
MIRT951466	hsa-miR-920	CLIP-seq
MIRT951467	hsa-miR-942	CLIP-seq
MIRT1981829	hsa-miR-3938	CLIP-seq
MIRT951451	hsa-miR-4297	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT951454	hsa-miR-4519	CLIP-seq
MIRT951455	hsa-miR-4530	CLIP-seq
MIRT951462	hsa-miR-515-3p	CLIP-seq
MIRT951463	hsa-miR-519e	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT1981830	hsa-miR-576-5p	CLIP-seq
MIRT2216679	hsa-miR-1207-5p	CLIP-seq
MIRT2216680	hsa-miR-1248	CLIP-seq
MIRT2216681	hsa-miR-3127-3p	CLIP-seq
MIRT1981829	hsa-miR-3938	CLIP-seq
MIRT2216682	hsa-miR-4514	CLIP-seq
MIRT2216683	hsa-miR-4692	CLIP-seq
MIRT2216684	hsa-miR-4736	CLIP-seq
MIRT2216685	hsa-miR-4763-3p	CLIP-seq
MIRT2216686	hsa-miR-4763-5p	CLIP-seq
MIRT2216687	hsa-miR-550a	CLIP-seq
MIRT2216688	hsa-miR-578	CLIP-seq
MIRT2216689	hsa-miR-581	CLIP-seq
MIRT2216679	hsa-miR-1207-5p	CLIP-seq
MIRT2520635	hsa-miR-1286	CLIP-seq
MIRT951446	hsa-miR-1470	CLIP-seq
MIRT2520636	hsa-miR-2355-3p	CLIP-seq
MIRT2520637	hsa-miR-3128	CLIP-seq
MIRT2520638	hsa-miR-3182	CLIP-seq
MIRT2520639	hsa-miR-4268	CLIP-seq
MIRT2520640	hsa-miR-4275	CLIP-seq
MIRT951452	hsa-miR-4300	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT2216682	hsa-miR-4514	CLIP-seq
MIRT951456	hsa-miR-4646-3p	CLIP-seq
MIRT951457	hsa-miR-4648	CLIP-seq
MIRT951458	hsa-miR-4654	CLIP-seq
MIRT951459	hsa-miR-4667-3p	CLIP-seq
MIRT2216683	hsa-miR-4692	CLIP-seq
MIRT2520641	hsa-miR-4720-5p	CLIP-seq
MIRT2216684	hsa-miR-4736	CLIP-seq
MIRT2520642	hsa-miR-4759	CLIP-seq
MIRT2216685	hsa-miR-4763-3p	CLIP-seq
MIRT951461	hsa-miR-4769-5p	CLIP-seq
MIRT2520643	hsa-miR-4799-3p	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT951466	hsa-miR-920	CLIP-seq
MIRT2216679	hsa-miR-1207-5p	CLIP-seq
MIRT2520635	hsa-miR-1286	CLIP-seq
MIRT951446	hsa-miR-1470	CLIP-seq
MIRT2520636	hsa-miR-2355-3p	CLIP-seq
MIRT2520637	hsa-miR-3128	CLIP-seq
MIRT2520638	hsa-miR-3182	CLIP-seq
MIRT2520640	hsa-miR-4275	CLIP-seq
MIRT951452	hsa-miR-4300	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT2216682	hsa-miR-4514	CLIP-seq
MIRT951456	hsa-miR-4646-3p	CLIP-seq
MIRT951457	hsa-miR-4648	CLIP-seq
MIRT951458	hsa-miR-4654	CLIP-seq
MIRT951459	hsa-miR-4667-3p	CLIP-seq
MIRT2216683	hsa-miR-4692	CLIP-seq
MIRT2520641	hsa-miR-4720-5p	CLIP-seq
MIRT2216684	hsa-miR-4736	CLIP-seq
MIRT2520642	hsa-miR-4759	CLIP-seq
MIRT2216685	hsa-miR-4763-3p	CLIP-seq
MIRT951461	hsa-miR-4769-5p	CLIP-seq
MIRT2520643	hsa-miR-4799-3p	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT951466	hsa-miR-920	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000247	Function	C-8 sterol isomerase activity	IBA
GO:0000247	Function	C-8 sterol isomerase activity	IEA
GO:0000247	Function	C-8 sterol isomerase activity	ISS
GO:0004769	Function	Steroid Delta-isomerase activity	EXP	10391218, 10391219
GO:0004769	Function	Steroid Delta-isomerase activity	IBA
GO:0004769	Function	Steroid Delta-isomerase activity	IDA	9894009, 10391219
GO:0004769	Function	Steroid Delta-isomerase activity	IMP	10391219
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	10406945
GO:0005635	Component	Nuclear envelope	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	10406945
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10406945
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISM	7706302
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	IDA	9894009
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	10391219
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0033489	Process	Cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	TAS
GO:0033963	Function	Cholesterol-5,6-oxide hydrolase activity	IEA
GO:0033963	Function	Cholesterol-5,6-oxide hydrolase activity	IMP	20615952
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043931	Process	Ossification involved in bone maturation	IMP	10391219
GO:0047750	Function	Cholestenol delta-isomerase activity	IEA

MIM	HGNC	e!Ensembl
300205	3133	ENSG00000147155

Q15125

Protein name

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC 5.3.3.5) (Cholestenol Delta-isomerase) (Cholesterol-5,6-epoxide hydrolase subunit EBP) (EC 3.3.2.11) (Delta(8)-Delta(7) sterol isomerase) (D8-D7 sterol isomerase) (Emopamil-binding protein)

Protein function

Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol. {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:

PDB

6OHT , 6OHU , 8W0R , 8W0S

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05241	EBP	96 → 207		Family

Sequence

MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN

Sequence length

230

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways		Cholesterol biosynthesis via desmosterol Cholesterol biosynthesis via lathosterol

123

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chondrodysplasia punctata 2 X-linked dominant	Likely pathogenic; Pathogenic	rs372974717, rs1569479885, rs587783599, rs587783600, rs587783601, rs587783602, rs587783603, rs587783604, rs587783605, rs587783606, rs587783607, rs587783608, rs587783609, rs587783610, rs587783611 View all (28 more)	RCV002227567 RCV002273108 RCV000145922 RCV000145924 RCV000145925 RCV000145926 RCV000145927 RCV000145928 RCV000145929 RCV000145930 RCV000145931 RCV000145932 RCV000145933 RCV000145934 RCV000145935 RCV000145936 RCV000145937 RCV000145938 RCV000145940 RCV000145941 RCV000145942 RCV000145945 RCV000192563 RCV000193764 RCV000194606 RCV000192822 RCV000193635 RCV000194874 RCV003219200 RCV003227561 RCV000012238 RCV000012239 RCV000012240 RCV000012241 RCV000012242 RCV000012243 RCV000012244 RCV000012245 RCV000012246 RCV000012247 RCV000990808 RCV000990809 RCV000995763 RCV001270857
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL	Pathogenic	rs878854358	RCV000190981
Connective tissue disorder	Likely pathogenic; Pathogenic	rs104894800	RCV002276542
EBP-related disorder	Likely pathogenic	rs2519522435	RCV003397765
MEND syndrome	Pathogenic; Likely pathogenic	rs587783599, rs797045153, rs878854359, rs886039345, rs28935174, rs104894795	RCV000190980 RCV000190982 RCV000190983 RCV001824133 RCV004795393 RCV000012248
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs587783601	RCV005888126
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2519522184, rs104894799	RCV005930331 RCV005887448

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs782032695	RCV005916175
Cholangiocarcinoma	Likely benign	rs782032695	RCV005916179
Cleft palate	Benign; Likely benign	rs188270695	RCV005625651
Developmental disorder	Likely benign	rs2147156355	RCV001843810
Intellectual disability	Conflicting classifications of pathogenicity	rs144359050	RCV005626424
Malignant tumor of esophagus	Likely benign	rs782032695	RCV005916177
Malignant tumor of urinary bladder	Likely benign	rs782032695	RCV005916176
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs188270695	RCV005900942
See cases	Uncertain significance	rs1363599120	RCV002252935
Thymoma	Likely benign	rs782032695	RCV005916178
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs782032695, rs188270695	RCV005916180 RCV005900943

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alopecia	Associate	10391219, 25846959
Bazex Dupre Christol syndrome	Associate	10391219
Breast Neoplasms	Associate	27246191, 31165728
Cataract	Associate	10391219, 25846959
Chondrodysplasia Punctata	Associate	10391219, 11982764, 12509714, 18176751, 21163155, 25846959, 30135486, 30608402, 31165728, 33147667
Colorectal Neoplasms	Associate	32163279, 37205704
Costello Syndrome	Associate	10712202
Cystic Fibrosis	Associate	11591888
Eunuchism	Associate	31397093
Growth Disorders	Associate	25846959, 30135486
Heart defects limb shortening	Associate	25846959
HEM dysplasia	Associate	12509714
Ichthyosiform Erythroderma Congenital	Associate	25846959
Ichthyosis	Associate	10391219, 25846959, 30135486
Inflammation	Associate	28714016
Klinefelter Syndrome	Associate	30135486
Lipodystrophy Congenital Generalized	Associate	32349771
Metabolism Inborn Errors	Associate	31165728
Neoplasms	Associate	32163279
Neuraminidase 1 deficiency	Associate	16538002
Ovarian Neoplasms	Associate	19724865
Turner Syndrome	Associate	39940742
Warburg Sjo Fledelius syndrome	Associate	37774976

EBP (EBP cholestenol delta-isomerase)