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DHCR7 Gene(Protein Coding)

7-Dehydrocholesterol Reductase

GCID:
GC11M071428
GIFtS:
55
Genes Participants
UDN Logo

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 56
  • Delta-7-Dehydrocholesterol Reductase 3
  • Smith-Lemli-Opitz Syndrome 2
  • Sterol Delta(7)-Reductase 4
  • Sterol Delta-7-Reductase 3
  • EC 1.3.1 56
  • 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 cognitive disability, 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 Holoprosencephaly. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and cholesterol biosynthesis I. Gene Ontology (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

Additional gene information for DHCR7 Gene

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

Genomics for DHCR7 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for DHCR7 Gene

Promoters and enhancers for DHCR7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11I071446 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.8 1812 8.5 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 NADSYN1 DHCR7 ENSG00000254682 NUMA1 LOC100128494 ZNF705E IL18BP ENSG00000248671
GH11I071418 Enhancer 0.8 ENCODE dbSUPER 11.7 +34.2 34185 1.4 PKNOX1 NR2F1 EBF1 DPF2 EP300 BCL11A NFATC1 IKZF1 RUNX3 IKZF2 NADSYN1 ENSG00000254682 DHCR7 FLJ42102 SHANK2
GH11I071479 Enhancer 0.8 ENCODE 11.4 -28.3 -28340 3.1 PKNOX1 CLOCK NFIB NEUROD1 SIN3A NFXL1 ZBTB7B ZBTB40 ELK1 SCRT2 NADSYN1 ENSG00000254682 NUMA1 LOC100128494 ZNF705E DHCR7 IL18BP FAM86C1 KRTAP5-9 MIR6754
GH11I071487 Enhancer 0.7 ENCODE 11.5 -36.0 -35975 2.4 HDGF PKNOX1 BATF RELA FOSL1 GATA3 CTBP1 SCRT2 RCOR1 FOSL2 ENSG00000254682 NADSYN1 DHCR7 KRTAP5-9 KRTAP5-8 GC11M071490 MIR6754
GH11I071500 Enhancer 0.7 ENCODE 10.9 -47.9 -47922 0.2 NCOA3 PKNOX1 ZNF687 RXRA NFIB MAX GATAD2B RAD21 NR2F2 ZKSCAN1 KRTAP5-9 DHCR7 NADSYN1 ENSG00000254682 GC11M071490 GC11M071508
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DHCR7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DHCR7 gene promoter:

Genomic Locations for DHCR7 Gene

Genomic Locations for DHCR7 Gene
chr11:71,428,193-71,452,868
(GRCh38/hg38)
Size:
24,676 bases
Orientation:
Minus strand
chr11:71,139,239-71,163,914
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for DHCR7 Gene

Proteins for DHCR7 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for DHCR7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DHCR7 Gene

Q9UBM7:
  • HLLPYFY
  • IECSYTSADG
  • MGIEFNP
  • FIMACDQY
  • WYLKTIDICHDHFGWYLGWGDCVWLP
  • SGFWGVARH
  • NILGYAVSTFA
  • AVPYRLLPG
  • DNWIPLLWC
  • LYTLQGLYLVY
  • KLFFNGRPGI

Post-translational modifications for DHCR7 Gene

Other Protein References for DHCR7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DHCR7 Gene

Gene Families for DHCR7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for DHCR7 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DHCR7 Gene

GenScript: Design optimal peptide antigens:

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

Function for DHCR7 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Gene Ontology (GO) - Molecular Function for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009918 sterol delta7 reductase activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA --
GO:0047598 7-dehydrocholesterol reductase activity IDA,EXP 9465114
GO:0050661 NADP binding ISS --
genes like me logo Genes that share ontologies with DHCR7: view
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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHCR7 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane IDA 9878250
GO:0005783 endoplasmic reticulum IDA 9878250
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA,HDA 19946888
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:0001568 blood vessel development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IMP 9465114
GO:0008202 steroid metabolic process IEA --
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

Products:

  1. Drug

(9) Drugs for DHCR7 Gene - From: DrugBank, PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
cholesterol Approved, Experimental, Investigational Pharma Agonist 0
cholic acid Approved Pharma Full agonist, Agonist 0
NAD Pharma Full agonist, Agonist 0
AY 9944 dihydrochloride Pharma Hedgehog Inhibitor, Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase 0

(14) Additional Compounds for DHCR7 Gene - From: HMDB and Novoseek

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

(1) Tocris Compounds for DHCR7 Gene

Compound Action Cas Number
AY 9944 dihydrochloride Inhibitor of Hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase 366-93-8
genes like me logo Genes that share compounds with DHCR7: view

Transcripts for DHCR7 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DHCR7 Gene

(3) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(440) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DHCR7 Gene

7-dehydrocholesterol reductase:
Representative Sequences:

Clone Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DHCR7 Gene

mRNA expression in normal human tissues for DHCR7 Gene
mRNA expression by GTEx for DHCR7 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for DHCR7 Gene



Protein tissue co-expression partners for DHCR7 Gene

NURSA nuclear receptor signaling pathways regulating expression of DHCR7 Gene:

DHCR7

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.

Evidence on tissue expression from TISSUES for DHCR7 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Skin(2.8)
  • Blood(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DHCR7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • breast
  • bronchus
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with DHCR7: view

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 33 34
  • 99.16 (n)
dog
(Canis familiaris)
 Mammalia DHCR7 33 34
  • 88.14 (n)
cow
(Bos Taurus)
 Mammalia DHCR7 33 34
  • 87.16 (n)
mouse
(Mus musculus)
 Mammalia Dhcr7 33 16 34
  • 84.85 (n)
rat
(Rattus norvegicus)
 Mammalia Dhcr7 33
  • 84.43 (n)
oppossum
(Monodelphis domestica)
 Mammalia DHCR7 34
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DHCR7 34
  • 69 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DHCR7 33 34
  • 71.66 (n)
lizard
(Anolis carolinensis)
 Reptilia DHCR7 34
  • 74 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dhcr7 33
  • 75.9 (n)
MGC75866 33
zebrafish
(Danio rerio)
 Actinopterygii dhcr7 33 34
  • 73.69 (n)
fruit fly
(Drosophila melanogaster)
 Insecta LBR 34
  • 12 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea dhcr-7 34
  • 20 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ERG24 34
  • 28 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons DWF5 33
  • 48.81 (n)
rice
(Oryza sativa)
 Liliopsida Os02g0465400 33
  • 49.32 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 53 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.14045 33
Species where no ortholog for DHCR7 was found in the sources mined by GeneCards:
  • 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

(2) SIMAP similar genes for DHCR7 Gene using alignment to 10 proteins:

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 Variation AA Info Type
rs1044482 benign, conflicting-interpretations-of-pathogenicity, not specified, Smith-Lemli-Opitz syndrome 71,444,125(-) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs1044535 benign, Smith-Lemli-Opitz syndrome 71,434,732(-) G/A 3_prime_UTR_variant
rs1046560765 syndrome (SLOS) [MIM:270400] 71,435,581(-) A/G coding_sequence_variant, missense_variant, synonymous_variant
rs104886033 conflicting-interpretations-of-pathogenicity, Smith-Lemli-Opitz syndrome, not provided 71,444,952(-) T/C initiator_codon_variant, missense_variant
rs104886035 pathogenic, not provided, Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] 71,444,163(-) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv74n21 CNV loss 19592680
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)

Additional Variant Information for DHCR7 Gene

Human Gene Mutation Database (HGMD)
DHCR7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHCR7

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

Disorders for DHCR7 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
smith-lemli-opitz syndrome
  • slos
holoprosencephaly
  • holoprosencephaly sequence
myotonic dystrophy 1
  • dm1
chromosome 2q35 duplication syndrome
  • syndactyly, type i; sdty1
- 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.

Additional Disease Information for DHCR7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PMID: 9634533) Wassif CA … Porter FD (American journal of human genetics 1998) 2 3 4 22 58
  2. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. (PMID: 17965227) Witsch-Baumgartner M … Utermann G (Journal of medical genetics 2008) 3 22 44 58
  3. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. (PMID: 16497572) Ciara E … Krajewska-Walasek M (European journal of medical genetics 2006) 3 22 44 58
  4. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). (PMID: 15954111) Waye JS … Porter FD (Human mutation 2005) 3 4 22 58
  5. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (PMID: 15286151) Witsch-Baumgartner M … Utermann G (Journal of medical genetics 2004) 3 22 44 58

Products for DHCR7 Gene

Sources for DHCR7 Gene

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