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 ... See more...

Aliases for DHCR7 Gene

Aliases for DHCR7 Gene

  • 7-Dehydrocholesterol Reductase 2 3 4 5
  • Delta7-Sterol Reductase 3 4
  • Sterol Reductase SR-2 3 4
  • 7-DHC Reductase 3 4
  • EC 1.3.1.21 4 50
  • Delta-7-Dehydrocholesterol Reductase 3
  • Putative Sterol Reductase SR-2 3
  • Smith-Lemli-Opitz Syndrome 2
  • Sterol Delta(7)-Reductase 4
  • Sterol Delta-7-Reductase 3
  • EC 1.3.1 50
  • DHCR7 5
  • 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 cholesterol biosynthesis I and Regulation of cholesterol biosynthesis by SREBP (SREBF). 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 LBR.

UniProtKB/Swiss-Prot Summary for DHCR7 Gene

  • 7-dehydrocholesterol reductase of the cholesterol biosynthetic pathway reducing the C7-C8 double bond of cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol/7-DHC) and cholesta-5,7,24-trien-3beta-ol, two intermidiates in that pathway.

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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHCR7 Gene

Genomics for DHCR7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHCR7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHCR7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHCR7

Top Transcription factor binding sites by QIAGEN in the DHCR7 gene promoter:
  • ATF6
  • GATA-1
  • GATA-2
  • GATA-3
  • HOXA5
  • NF-1
  • NF-1/L
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for DHCR7 Gene

Latest Assembly
chr11:71,428,193-71,452,868
(GRCh38/hg38)
Size:
24,676 bases
Orientation:
Minus strand

Previous Assembly
chr11:71,145,457-71,159,439
(GRCh37/hg19 by Entrez Gene)
Size:
13,983 bases
Orientation:
Minus strand

chr11:71,139,239-71,163,914
(GRCh37/hg19 by Ensembl)
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:
    • Interacts with DHCR24; this interaction regulates DHCR7 activity.

neXtProt entry for DHCR7 Gene

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

  • Ubiquitination at Lys13 and Lys88
  • Modification sites at PhosphoSitePlus

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

InterPro:
Blocks:
  • Gamma-crystallin related
  • ERG4/ERG24 ergosterol biosynthesis protein

Suggested Antigen Peptide Sequences for DHCR7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51181, highly similar to 7-dehydrocholesterol reductase (EC 1.3.1.21) (B4E1K5_HUMAN)
  • Sterol Delta(7)-reductase (DHCR7_HUMAN)

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

Molecular function for DHCR7 Gene

UniProtKB/Swiss-Prot Function:
7-dehydrocholesterol reductase of the cholesterol biosynthetic pathway reducing the C7-C8 double bond of cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol/7-DHC) and cholesta-5,7,24-trien-3beta-ol, two intermidiates in that pathway.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol + NADP(+) = cholesta-5,7-dien-3beta-ol + H(+) + NADPH; Xref=Rhea:RHEA:23984, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:17759, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.21; Evidence={ECO:0000269|PubMed:25637936, ECO:0000269|PubMed:9465114, ECO:0000269|PubMed:9634533};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesta-5,7,24-trien-3beta-ol + H(+) + NADPH = cholesta-5,24-dien-3beta-ol + NADP(+); Xref=Rhea:RHEA:46740, ChEBI:CHEBI:15378, ChEBI:CHEBI:17737, ChEBI:CHEBI:27910, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000250|UniProtKB:O88455};.
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

Enzyme Numbers (IUBMB) for DHCR7 Gene

Phenotypes From GWAS Catalog for DHCR7 Gene

Gene Ontology (GO) - Molecular Function for DHCR7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25637936
GO:0009918 sterol delta7 reductase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IBA 21873635
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA --
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHCR7

No data available for 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 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • 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:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
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:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IEA,IMP 9465114
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
cholesterol Approved, Investigational Pharma 0
cholic acid Approved Pharma 0
NAD Experimental Pharma 0
NADP Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-dehydrocholesterol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 5,7-Cholestadien-3-beta-ol
  • 5,7-Cholestadien-3beta-ol
  • Provitamin D3
  • Cholesta-5,7-dien-3beta-ol
434-16-2
24-Methylenecholesterol
  • 24-Methylencholesterol
  • 24-Methylene-cholest-5-en-3beta-ol
  • Chalinasterol
  • Ostreasterol
  • 24-Methylene-cholest-5-en-3b-ol
474-63-5
5-Dehydroavenasterol
  • (24Z)-24-Ethylcholesta-5,7,24(28)-trien-3beta-ol
  • (24Z)-24-Ethylcholesta-5,7,24(28)-trien-3β-ol
  • (24Z)-Stigmasta-5,7,24(28)-trien-3beta-ol
  • (24Z)-Stigmasta-5,7,24(28)-trien-3β-ol
  • (3beta,24Z)-Stigmasta-5,7,24(28)-trien-3-ol
29560-28-9
5-Dehydroepisterol
  • Campesta-7,24(28)-dien-3beta-ol
  • Ergosta-5,7,24(28)-trien-3beta-ol
  • (3beta)-Ergosta-5,7,24(28)-trien-3-ol
  • (3β)-Ergosta-5,7,24(28)-trien-3-ol
  • 5-Dehydroepisterol
23582-83-4
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with DHCR7: view

Transcripts for DHCR7 Gene

mRNA/cDNA for DHCR7 Gene

2 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHCR7

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

Expression for DHCR7 Gene

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



Protein tissue co-expression partners for DHCR7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHCR7

SOURCE GeneReport for Unigene cluster for DHCR7 Gene:

Hs.503134

mRNA Expression by UniProt/SwissProt for DHCR7 Gene:

Q9UBM7-DHCR7_HUMAN
Tissue specificity: Widely expressed. 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(3.2)
  • Adrenal gland(2.6)
  • Kidney(2.5)
  • Blood(2.4)
  • Intestine(2.4)
  • Muscle(2.1)
  • Heart(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
Regions:
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

Primer products for research

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 29 30
  • 99.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DHCR7 29 30
  • 88.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DHCR7 29 30
  • 87.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dhcr7 29 16 30
  • 84.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dhcr7 29
  • 84.43 (n)
Oppossum
(Monodelphis domestica)
Mammalia DHCR7 30
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DHCR7 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DHCR7 29 30
  • 71.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DHCR7 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhcr7 29
  • 75.9 (n)
MGC75866 29
Zebrafish
(Danio rerio)
Actinopterygii dhcr7 29 30
  • 73.69 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta LBR 30
  • 12 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dhcr-7 30
  • 20 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG24 30
  • 28 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DWF5 29
  • 48.81 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0465400 29
  • 49.32 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 53 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14045 29
Species where no ortholog for DHCR7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for DHCR7: view image
Alliance of Genome Resources:
Additional Orthologs for DHCR7

Paralogs for DHCR7 Gene

Paralogs for DHCR7 Gene

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

  • DHCR7_HUMAN
  • E9PIP9_HUMAN
  • E9PJ54_HUMAN
  • E9PLZ2_HUMAN
  • E9PM00_HUMAN
  • E9PQ71_HUMAN
  • E9PRL8_HUMAN
  • H0YCS7_HUMAN
  • H0YE57_HUMAN
  • H0YEJ5_HUMAN
genes like me logo Genes that share paralogs with DHCR7: view

Variants for DHCR7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHCR7 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1005590 Uncertain Significance: Smith-Lemli-Opitz syndrome 71,439,023(-) G/C
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met)
MISSENSE
1027907 Likely Pathogenic: Smith-Lemli-Opitz syndrome 71,442,354(-) C/T
NM_001360.3(DHCR7):c.322-1G>A
SPLICE_ACCEPTOR
1039683 Uncertain Significance: Smith-Lemli-Opitz syndrome 71,438,928(-) T/C
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)
MISSENSE
1047373 Uncertain Significance: Smith-Lemli-Opitz syndrome 71,435,466(-) C/CGGA
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup)
INFRAME_INSERTION
706368 Likely Benign: Smith-Lemli-Opitz syndrome 71,444,106(-) CA/TG
NM_001360.3(DHCR7):c.207_208inv (p.Gly70Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DHCR7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
DHCR7

SNP Genotyping and Copy Number Assays for research

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

Disorders for DHCR7 Gene

MalaCards: The human disease database

(18) MalaCards diseases for DHCR7 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
smith-lemli-opitz syndrome
  • slos
holoprosencephaly
  • holoprosencephaly sequence
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
  • child syndrome
asperger syndrome
  • asperger disorder
x-linked chondrodysplasia punctata 2
  • conradi-hunermann syndrome
- 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:25637936, ECO:0000269 PubMed:9653161, ECO:0000269 PubMed:9683613}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DHCR7

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 72
  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 40 72
  3. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. (PMID: 11175299) Witsch-Baumgartner M … Utermann G (European journal of human genetics : EJHG 2001) 3 4 22 72
  4. Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (PMID: 10677299) Witsch-Baumgartner M … Utermann G (American journal of human genetics 2000) 3 4 22 72
  5. 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 40

Products for DHCR7 Gene

Sources for DHCR7 Gene