Gene table of EBP : emopamil binding protein (sterol isomerase)

Gene-disease associations table

Disease IDDisease nameSource of annotation with EBPOMIM linkNumber of associated genesgenes
300960MEND SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1EBP
302960CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 1EBP

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Annotation of the gene EBP

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Steroid biosynthesishsa001008.45
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Cholesterol biosynthesisR-HSA-1912738.46
MetabolismR-HSA-14307282.34
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
isomerase activityGO:00168534.62
C-8 sterol isomerase activityGO:00002479.05
transporter activityGO:00052152.57
catalytic activityGO:00038241.05
cholestenol delta-isomerase activityGO:00477509.05
transmembrane transporter activityGO:00228572.82
drug transmembrane transporter activityGO:00152386.85
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
receptor activityGO:00048722.32
signal transducer activityGO:00048712.28
drug transporter activityGO:00904846.69
steroid delta-isomerase activityGO:00047698.64
intramolecular oxidoreductase activity, transposing C=C bondsGO:00168637.17
transmembrane receptor activityGO:00996002.53
intramolecular oxidoreductase activityGO:00168605.75