EBP cholestenol delta-isomerase

Summary
Gene Symbol
  • EBP
Aliases
  • 3-beta-hydroxysteroid-delta-8,delta-7-isomerase
  • CHO2
  • CPX
  • CPXD
  • Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
  • sterol 8-isomerase
Organism
Homo sapiens (human)
External Links
NCBI Gene
10682
HGNC
3133
KEGG Gene ID
hsa:10682
PubChem
10682
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cataract
  • Cholesterol biosynthesis
  • Cytoplasmic vesicle
  • Disease variant
  • Dwarfism
  • Endoplasmic reticulum
  • Ichthyosis
  • Isomerase
  • Nucleus
  • Reference proteome
  • Sterol biosynthesis
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A024QYX0
  • Cholestenol Delta-isomerase
  • Delta(8)-Delta(7) sterol isomerase
Q15125
  • Cholestenol Delta-isomerase
  • Delta(8)-Delta(7) sterol isomerase
  • Emopamil-binding protein
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000147155

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01824
Name
cholestenol Delta-isomerase [EC:5.3.3.5]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 189 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050865 tongue squamous cell carcinoma
DOID:0050908 myelodysplastic syndrome
DOID:0060215 Balo concentric sclerosis
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060287 cornea plana
DOID:0060292 X-linked chondrodysplasia punctata 1
DOID:0060293 autosomal dominant chondrodysplasia punctata
The Human Phenotype Ontology
Displaying entries 1 - 10 of 130 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000126 Hydronephrosis
HP:0000175 Cleft palate
HP:0000218 High palate
HP:0000237 Small anterior fontanelle
HP:0000238 Hydrocephalus
HP:0000260 Wide anterior fontanel
HP:0000272 Malar flattening
HP:0000308 Microretrognathia
HP:0000316 Hypertelorism
Displaying all 4 entries
Disease ID Disease Name
ORPHA:401973
  • MEND syndrome
OMIM:300960
  • MEND syndrome
OMIM:302960
  • X-linked chondrodysplasia punctata 2
ORPHA:35173
  • X-linked chondrodysplasia punctata 2
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000533
Gene Name
emopamil binding protein (sterol isomerase)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024