7-dehydrocholesterol reductase

Summary
Gene Symbol
  • DHCR7
Organism
Homo sapiens (human)
External Links
NCBI Gene
1717
HGNC
2860
KEGG Gene ID
hsa:1717
PubChem
1717
Alliance of Genome Resources
Annotation
Keyword
  • Cholesterol biosynthesis
  • Disease variant
  • Endoplasmic reticulum
  • NADP
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9UBM7
  • Delta7-sterol reductase
  • Sterol Delta(7)-reductase
  • Sterol reductase SR-2
A0A024R5F7
  • Sterol Delta(7)-reductase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000172893

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
K00213
Name
7-dehydrocholesterol reductase [EC:1.3.1.21]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 119 in total
DO ID Disease Name Source
DOID:0050429 Hailey-Hailey disease
DOID:0050454 periventricular nodular heterotopia
DOID:0050571 congenital disorder of glycosylation type II
DOID:0050651 atrioventricular septal defect
DOID:0050778 Meckel syndrome
DOID:0060041 autism spectrum disorder
DOID:0060249 scoliosis
DOID:0060281 photosensitive epilepsy
DOID:0060330 Rapp-Hodgkin syndrome
DOID:0060336 3-methylglutaconic aciduria
The Human Phenotype Ontology
Displaying entries 1 - 10 of 180 in total
HPO ID HPO Term
HP:0000003 Multicystic kidney dysplasia
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000046 Small scrotum
HP:0000047 Hypospadias
HP:0000048 Bifid scrotum
HP:0000054 Micropenis
HP:0000062 Ambiguous genitalia
HP:0000074 Ureteropelvic junction obstruction
HP:0000081 Duplicated collecting system
Displaying all 2 entries
Disease ID Disease Name
OMIM:270400
  • Smith-Lemli-Opitz syndrome
ORPHA:818
  • Smith-Lemli-Opitz syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002707
Gene Name
7-dehydrocholesterol reductase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024