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Aliases for DHCR7 Gene

Aliases for DHCR7 Gene

  • 7-Dehydrocholesterol Reductase 2 3 5
  • Putative Sterol Reductase SR-2 3 4
  • 7-DHC Reductase 3 4
  • EC 1.3.1.21 4 63
  • Delta-7-Dehydrocholesterol Reductase 3
  • Smith-Lemli-Opitz Syndrome 2
  • Sterol Delta(7)-Reductase 4
  • Sterol Delta-7-Reductase 3
  • EC 1.3.1 63
  • SLOS 3
  • D7SR 4

External Ids for DHCR7 Gene

Previous HGNC Symbols for DHCR7 Gene

  • SLOS

Previous GeneCards Identifiers for DHCR7 Gene

  • GC11M073477
  • GC11M072685
  • GC11M071368
  • GC11M070871
  • GC11M070823
  • GC11M071145
  • GC11M067439

Summaries for DHCR7 Gene

Entrez Gene Summary for DHCR7 Gene

  • This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

GeneCards Summary for DHCR7 Gene

DHCR7 (7-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR7 include smith-lemli-opitz syndrome and 46xy sex reversal 9. Among its related pathways are Metabolism and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor and 7-dehydrocholesterol reductase activity. An important paralog of this gene is TM7SF2.

UniProtKB/Swiss-Prot for DHCR7 Gene

  • Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Tocris Summary for DHCR7 Gene

  • Delta7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form cholesterol), using NADPH as a cofactor. DHCR is ubiquitously expressed.

Gene Wiki entry for DHCR7 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHCR7 Gene

Genomics for DHCR7 Gene

Regulatory Elements for DHCR7 Gene

Promoters for DHCR7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DHCR7 on UCSC Golden Path with GeneCards custom track

Genomic Location for DHCR7 Gene

Chromosome:
11
Start:
71,428,193 bp from pter
End:
71,452,868 bp from pter
Size:
24,676 bases
Orientation:
Minus strand

Genomic View for DHCR7 Gene

Genes around DHCR7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHCR7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHCR7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHCR7 Gene

Proteins for DHCR7 Gene

  • Protein details for DHCR7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBM7-DHCR7_HUMAN
    Recommended name:
    7-dehydrocholesterol reductase
    Protein Accession:
    Q9UBM7
    Secondary Accessions:
    • B2R6Z2
    • O60492
    • O60717

    Protein attributes for DHCR7 Gene

    Size:
    475 amino acids
    Molecular mass:
    54489 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DHCR7 Gene

Proteomics data for DHCR7 Gene at MOPED

Post-translational modifications for DHCR7 Gene

  • Ubiquitination at Lys 88
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for DHCR7 Gene

Suggested Antigen Peptide Sequences for DHCR7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBM7

UniProtKB/Swiss-Prot:

DHCR7_HUMAN :
  • Belongs to the ERG4/ERG24 family.
Family:
  • Belongs to the ERG4/ERG24 family.
genes like me logo Genes that share domains with DHCR7: view

No data available for Gene Families for DHCR7 Gene

Function for DHCR7 Gene

Molecular function for DHCR7 Gene

GENATLAS Biochemistry:
delta 7-dehydrocholesterol reductase,located in the endoplasmic reticulum and continuous outer nuclear membrane,ubiquitously expressed,most abundant in adrenals,liver,testis,brain,LBR superfamily,catalyzing the ultimate step of cholesterol biosynthesis,deficient in SLOS
UniProtKB/Swiss-Prot CatalyticActivity:
Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH.
UniProtKB/Swiss-Prot Function:
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Enzyme Numbers (IUBMB) for DHCR7 Gene

genes like me logo Genes that share phenotypes with DHCR7: view

Human Phenotype Ontology for DHCR7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHCR7 Gene

MGI Knock Outs for DHCR7:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DHCR7 Gene

Localization for DHCR7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHCR7 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DHCR7 Gene COMPARTMENTS Subcellular localization image for DHCR7 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with DHCR7: view

Pathways & Interactions for DHCR7 Gene

genes like me logo Genes that share pathways with DHCR7: view

UniProtKB/Swiss-Prot Q9UBM7-DHCR7_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Gene Ontology (GO) - Biological Process for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0033490 cholesterol biosynthetic process via lathosterol TAS --
GO:0035264 multicellular organism growth IEA --
GO:0042127 regulation of cell proliferation IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with DHCR7: view

No data available for SIGNOR curated interactions for DHCR7 Gene

Drugs & Compounds for DHCR7 Gene

(6) Drugs for DHCR7 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Experimental Pharma Agonist 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(16) Additional Compounds for DHCR7 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-dehydrocholesterol
  • (-)-7-dehydrocholesterol
  • (3b)-Cholesta-5,7-dien-3-ol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 10,13-Dimethyl-17-(6-methylheptan-2-yl)-2,3,4,9,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
  • 17-(1,5-Dimethylhexyl)-10,13-dimethyl-2,3,4,9,10,11,12,13,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol
434-16-2
24-Methylenecholesterol
  • (3b)-Ergosta-5,24(28)-dien-3-ol
  • 24-Methylencholesterol
  • 24-Methylene-Cholesterol
  • Chalinasterol
  • Ergosta-5, 24(28)-dien-3b-ol
474-63-5
5-Dehydroavenasterol
5-Dehydroepisterol
  • Campesta-7,24(28)-dien-3beta-ol
  • Ergosta-5,7,24(28)-trien-3beta-ol
23582-83-4
Avenasterol
  • (24Z)-Ethylidenecholesterol
  • (24Z)-Stigmasta-5,24(28)-dien-3-ol
  • (3.beta.,24Z)-Stigmasta-5,24(28)-dien-3-ol
  • (3b,24Z)-Stigmasta-5,24(28)-dien-3-ol
  • (Z)-24-Ethylidenecholesterol
481-14-1
genes like me logo Genes that share compounds with DHCR7: view

Transcripts for DHCR7 Gene

Unigene Clusters for DHCR7 Gene

7-dehydrocholesterol reductase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DHCR7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - - - -
SP9: - -
SP10: - -
SP11:

Relevant External Links for DHCR7 Gene

GeneLoc Exon Structure for
DHCR7
ECgene alternative splicing isoforms for
DHCR7

Expression for DHCR7 Gene

mRNA expression in normal human tissues for DHCR7 Gene

mRNA differential expression in normal tissues according to GTEx for DHCR7 Gene

This gene is overexpressed in Liver (x5.8).

Protein differential expression in normal tissues from HIPED for DHCR7 Gene

This gene is overexpressed in Fetal testis (19.5), Nasal epithelium (13.0), and Bone (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DHCR7 Gene



SOURCE GeneReport for Unigene cluster for DHCR7 Gene Hs.503134

mRNA Expression by UniProt/SwissProt for DHCR7 Gene

Q9UBM7-DHCR7_HUMAN
Tissue specificity: Most abundant in adrenal gland, liver, testis, and brain.
genes like me logo Genes that share expression patterns with DHCR7: view

Protein tissue co-expression partners for DHCR7 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DHCR7 Gene

Orthologs for DHCR7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHCR7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHCR7 35
  • 99.16 (n)
  • 99.58 (a)
DHCR7 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DHCR7 36
  • 88 (a)
OneToOne
DHCR7 35
  • 87.16 (n)
  • 88.84 (a)
dog
(Canis familiaris)
Mammalia DHCR7 35
  • 88.14 (n)
  • 89.26 (a)
DHCR7 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhcr7 16
Dhcr7 35
  • 84.85 (n)
  • 88.75 (a)
Dhcr7 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHCR7 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHCR7 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhcr7 35
  • 84.43 (n)
  • 87.47 (a)
chicken
(Gallus gallus)
Aves DHCR7 36
  • 76 (a)
OneToOne
DHCR7 35
  • 71.66 (n)
  • 76.58 (a)
lizard
(Anolis carolinensis)
Reptilia DHCR7 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhcr7 35
  • 75.9 (n)
  • 75.69 (a)
MGC75866 35
zebrafish
(Danio rerio)
Actinopterygii dhcr7 35
  • 73.69 (n)
  • 74.62 (a)
dhcr7 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LBR 36
  • 12 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dhcr-7 36
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 36
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons DWF5 35
  • 48.81 (n)
  • 39.79 (a)
rice
(Oryza sativa)
Liliopsida Os02g0465400 35
  • 49.32 (n)
  • 40.64 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14045 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for DHCR7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DHCR7 Gene

ENSEMBL:
Gene Tree for DHCR7 (if available)
TreeFam:
Gene Tree for DHCR7 (if available)

Paralogs for DHCR7 Gene

Paralogs for DHCR7 Gene

genes like me logo Genes that share paralogs with DHCR7: view

Variants for DHCR7 Gene

Sequence variations from dbSNP and Humsavar for DHCR7 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_012717 Smith-Lemli-Opitz syndrome (SLOS)
VAR_012718 Smith-Lemli-Opitz syndrome (SLOS)
VAR_012719 Smith-Lemli-Opitz syndrome (SLOS)
rs28938174 Smith-Lemli-Opitz syndrome (SLOS) 71,442,319(-) CTGCC(A/T)TAAGT reference, missense
VAR_012721 Smith-Lemli-Opitz syndrome (SLOS)

Structural Variations from Database of Genomic Variants (DGV) for DHCR7 Gene

Variant ID Type Subtype PubMed ID
nsv897896 CNV Gain 21882294
nsv897897 CNV Loss 21882294
dgv74n21 CNV Loss 19592680
nsv897898 CNV Loss 21882294
nsv518163 CNV Loss 19592680

Variation tolerance for DHCR7 Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DHCR7 Gene

HapMap Linkage Disequilibrium report
DHCR7
Human Gene Mutation Database (HGMD)
DHCR7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHCR7 Gene

Disorders for DHCR7 Gene

MalaCards: The human disease database

(14) MalaCards diseases for DHCR7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
smith-lemli-opitz syndrome
  • rutledge lethal multiple congenital anomaly syndrome
46xy sex reversal 9
  • 46,xy sex reversal 9
mental retardation, autosomal recessive 48
  • mrt48
retinitis pigmentosa 73
  • rp73
cornelia de lange syndrome 4
  • cdls4
- elite association - COSMIC cancer census association via MalaCards
Search DHCR7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHCR7_HUMAN
  • Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic (type I) SLOS and the more severely affected (type II) patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. {ECO:0000269 PubMed:10677299, ECO:0000269 PubMed:10995508, ECO:0000269 PubMed:11175299, ECO:0000269 PubMed:11427181, ECO:0000269 PubMed:12949967, ECO:0000269 PubMed:15954111, ECO:0000269 PubMed:9653161, ECO:0000269 PubMed:9683613}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DHCR7

Genetic Association Database (GAD)
DHCR7
Human Genome Epidemiology (HuGE) Navigator
DHCR7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DHCR7
genes like me logo Genes that share disorders with DHCR7: view

No data available for Genatlas for DHCR7 Gene

Publications for DHCR7 Gene

  1. Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PMID: 9634533) Wassif C.A. … Porter F.D. (Am. J. Hum. Genet. 1998) 2 3 4 23 67
  2. A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. (PMID: 19365639) SzabA^ G.P. … OlA!h E. (Eur. J. Pediatr. 2010) 3 23
  3. Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. (PMID: 19940018) Zwerger M. … Herrmann H. (Mol. Biol. Cell 2010) 3 23
  4. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. (PMID: 19390132) KolejA!kovA! K. … Chandoga J. (Gen. Physiol. Biophys. 2009) 3 23
  5. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. (PMID: 19406241) Matabosch X. … Shackleton C. (J. Steroid Biochem. Mol. Biol. 2009) 3 23

Products for DHCR7 Gene

Sources for DHCR7 Gene

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