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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DHCR7 Gene

protein-coding   GIFtS: 67
GCID: GC11M071145

7-dehydrocholesterol reductase

(Previous name: Smith-Lemli-Opitz syndrome )
(Previous symbol: SLOS)
 Explore 24 diseases affiliated with
DHCR7 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DHCR7    

Aliases
for DHCR7 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
7-Dehydrocholesterol Reductase1 2     Delta-7-Dehydrocholesterol Reductase2
SLOS1 2 5     Sterol Delta-7-Reductase2
Putative Sterol Reductase SR-22 3     D7SR3
7-DHC Reductase2 3     Sterol Delta(7)-Reductase3
EC 1.3.1.213 8     EC 1.3.18
Smith-Lemli-Opitz Syndrome1     

External Ids:    HGNC: 28601   Entrez Gene: 17172   Ensembl: ENSG000001728937   OMIM: 6028585   UniProtKB: Q9UBM73   

Export aliases for DHCR7 gene to outside databases

Previous GC identifers: GC11M073477 GC11M072685 GC11M071368 GC11M070871 GC11M070823 GC11M067439


Summaries
for DHCR7 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DHCR7:
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)

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

summary for DHCR7:
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. Cholesterol is a vital component in biological membranes and in
myelin and is necessary for the synthesis of steroid hormones and bile acids. DHCR is ubiquitously expressed
and its highest concentrations are found in the liver and brain. Autosomal recessive mutations in the DHCR7
gene have been linked to Smith-Lemli-Opitz syndrome, an inherited disease causing multiple congenital
abnormalities linked to defects in cholesterol biosynthesis. The human gene encoding this enzyme is
localized to 11q12-13.

Gene Wiki entry for DHCR7 (7-Dehydrocholesterol reductase)


Genomic Views
for DHCR7 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DHCR7 gene promoter:
         SRF   NF-1   NF-1/L   GATA-3   SRF (504 AA)   GATA-1   GATA-2   YY1   HOXA5   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DHCR7 promoter sequence
   Search SABiosciences Chromatin IP Primers for DHCR7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DHCR7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

DHCR7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHCR7 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M071145:  view genomic region     (about GC identifiers)

Start:
 71,139,239 bp from pter      End:
 71,163,914 bp from pter
Size:
 24,676 bases      Orientation:
 minus strand

Proteins
for DHCR7 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7 (See protein sequence)
Recommended Name: 7-dehydrocholesterol reductase  
Size: 475 amino acids; 54489 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B2R6Z2 O60492 O60717

Explore the universe of human proteins at neXtProt for DHCR7: NX_Q9UBM7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBM7

    • 4/11 DME Specific Peptides for DHCR7 (Q9UBM7) (see all 11)
     HLLPYFY  MGIEFNP  FIMACDQY  DNWIPLLWC 

    DHCR7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001157289.1  NP_001351.2  

    ENSEMBL proteins: 
     ENSP00000432256   ENSP00000384739   ENSP00000347717   ENSP00000435011   ENSP00000435956  
     ENSP00000437328   ENSP00000435047   ENSP00000435668   ENSP00000435707   ENSP00000432589  
     ENSP00000435058   ENSP00000436007  
    Reactome Protein details: Q9UBM7
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 2): DHCR7
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    Novus Biologicals DHCR7 Protein
    Novus Biologicals DHCR7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DHCR7

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005640nuclear outer membrane IDA9878250
    GO:0005783endoplasmic reticulum IDA9878250
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0016020membrane ----


    DHCR7 for ontologies           About GeneDecksing



    DHCR7 Antibody Products: 
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    Uscn ELISAs and CLIAs for DHCR7

    Protein Domains /
    Families
    for DHCR7 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DHCR7 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR018083 Sterol_reductase_CS
     IPR001171 Ergosterol_biosynth_ERG4_ERG24

    Graphical View of Domain Structure for InterPro Entry Q9UBM7

    ProtoNet protein and cluster: Q9UBM7

    2 Blocks protein families:
    IPB001171 ERG4/ERG24 ergosterol biosynthesis protein
    IPB011024 Gamma-crystallin related


    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
    Similarity: Belongs to the ERG4/ERG24 family


    Function
    for DHCR7 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
    Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)
    Catalytic activity: Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH

         Genatlas biochemistry entry for DHCR7:
    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): EC 1.3.1.211 2 EC 1.3.12

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHCR7
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    SwitchGear 3'UTR luciferase reporter plasmid: DHCR7 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DHCR7 (see all 7)
    OriGene shRNA RFP: DHCR7
    OriGene siRNA: DHCR7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DHCR7

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DHCR7

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): DHCR7 (NM_001360)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR7 

    Cell Line
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    Search LifeMap BioReagents cell lines for DHCR7

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ----
    GO:00475987-dehydrocholesterol reductase activity IDA9465114


    DHCR7 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DHCR7:
     Decreased viability  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for DHCR7: Dhcr7tm1Gst Dhcr7tm1Fdp
         13 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dhcr7):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  growth/size 
     homeostasis/metabolism  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 
     nervous system  renal/urinary system  respiratory system 

    DHCR7 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DHCR7 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1cholesterol biosynthesis III (via desmosterol)
    		cholesterol biosynthesis III (via desmosterol)1.00
    		cholesterol biosynthesis II (via 24,25-dihydrolanosterol)1.00
    		cholesterol biosynthesis I1.00
    		Steroid biosynthesis0.60
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Cholesterol biosynthesis
    		Cholesterol biosynthesis1.00
    		Cholesterol Biosynthesis0.68
    		superpathway of cholesterol biosynthesis0.81
    4Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    		Regulation of Cholesterol Biosynthesis by SREBP (SREBF)1.00
    		Activation of Gene Expression by SREBP (SREBF)0.67
    5Expression of Mevalonate Kinase (MVK)
    		Expression of 7-Dehydrocholesterol Reductase (DHCR7)0.75

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5 BioSystems Pathways for DHCR7 
        Cholesterol Biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis I
    cholesterol biosynthesis III (via desmosterol)

    5/6        Reactome Pathways for DHCR7 (see all 6)
        Metabolism
    Cholesterol biosynthesis
    Expression of 7-Dehydrocholesterol Reductase (DHCR7)
    Activation of Gene Expression by SREBP (SREBF)
    Metabolism of lipids and lipoproteins


    2         Kegg Pathways  (Kegg details for DHCR7):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
    Pathway: Steroid biosynthesis; cholesterol biosynthesis


    DHCR7 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DHCR7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/139 Interacting proteins for DHCR7 (Q9UBM72, 3 ENSP000003477174) via UniProtKB, MINT, STRING, and/or I2D (see all 139)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG482, 3, ENSP000003448184MINT-6489355 I2D: score=1 STRING: ENSP00000344818
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 MINT-6489355 STRING: ENSP00000220592
    FADS1O604273, ENSP000003222294I2D: score=2 STRING: ENSP00000322229
    NDNQ996083, ENSP000003326434I2D: score=2 STRING: ENSP00000332643
    ACP6Q9NPH03, ENSP000003582414I2D: score=1 STRING: ENSP00000358241
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0009791post-embryonic development IEA--
    GO:0016126sterol biosynthetic process ----
    GO:0030154cell differentiation IEA--


    DHCR7 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DHCR7 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DHCR7 for compounds           About GeneDecksing

    EMD Millipore small molecules for DHCR7:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for DHCR7 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AY 9944 dihydrochlorideInhibitor of hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase[366-93-8]

    10 HMDB Compounds for DHCR7    About this table
    CompoundSynonyms CAS #PubMed Ids
    7-Dehydrocholesterol(-)-7-dehydrocholesterol (see all 26)434-16-218285838
    24-Methylenecholesterol(3b)-Ergosta-5,24(28)-dien-3-ol (see all 8)474-63-5--
    5-Dehydroavenasterol ----
    5-DehydroepisterolErgosta-5,7,24(28)-trien-3beta-ol (see all 2)23582-83-4--
    AvenasterolIsofucosterol (see all 10)481-14-1--
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    1 DrugBank Compound for DHCR7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    10/12 Novoseek chemical compound relationships for DHCR7 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    7-dehydrocholesterol 98.3 159 9683613 (4), 16814115 (3), 9634533 (3), 20014133 (3) (see all 73)
    8-dehydrocholesterol 93.4 7 19406241 (1), 18249054 (1), 12949967 (1), 11352988 (1)
    3beta-hydroxysterol 92.3 6 16392899 (1), 11001807 (1), 11562938 (1), 16446309 (1) (see all 6)
    ay9944 84.6 7 8987154 (2), 9358606 (2), 16814115 (1)
    sterol 80.2 22 9634533 (4), 11001806 (2), 19940018 (2), 9683613 (1) (see all 10)
    cholesterol 76 135 17408495 (4), 20014133 (3), 16687448 (3), 18951487 (2) (see all 66)
    desmosterol 59.4 1 16207203 (1)
    squalene 53.1 8 18951487 (2), 15143536 (1)
    ergosterol 43.9 2 10719329 (1), 15464432 (1)
    simvastatin 42.8 3 15896653 (2), 19365639 (1)

    Search CenterWatch for drugs/clinical trials and news about DHCR7 

    Transcripts
    for DHCR7 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DHCR7 gene (2 alternative transcripts): 
    NM_001163817.1  NM_001360.2  

    Unigene Cluster for DHCR7:

    7-dehydrocholesterol reductase
    Hs.503134  [show with all ESTs]
    Unigene Representative Sequence: NM_001360
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534795 ENST00000407721 ENST00000355527(uc001oqk.3 uc001oql.3)
    ENST00000533800 ENST00000525137 ENST00000524694 ENST00000527316 ENST00000534701
    ENST00000526780 ENST00000525346 ENST00000531364 ENST00000529990 ENST00000527452


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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF034544.1 AF062481.1 AF067127.1 AF096305.1 AK289497.1 AK303881.1 AK309625.1 AK312775.1 
    BC000054.2 

    19 DOTS entries:

    DT.100647914  DT.418224  DT.100647904  DT.95326177  DT.100647915  DT.120742723  DT.100837843  DT.100647913 
    DT.100671595  DT.120742731  DT.91758253  DT.95181639  DT.95357168  DT.100033172  DT.120742718  DT.40108063 
    DT.95290620  DT.95357166  DT.95357178 

    440 AceView cDNA sequences (see top 24):

    BE799908 BU848891 AI521555 AA343352 BU684875 AA282516 AA861245 BU931469 
    AU125589 BU632366 AA070075 CA454504 AI610807 BM560287 BU846251 AW249784 
    BI835977 AI192049 AL118630 AI682081 BU850080 AW806469 CR609879 BM548686 
    AL044893 CR597288 BI819438 AA364447 CD672136 AA834440 BM773173 BM909778 
    CR605911 BG386167 AA775663 AI203117 BQ882354 BU621139 AU131534 BG024243 
    BI767334 AI653428 AA737995 BI826060 AU131409 AA970494 BQ935848 BQ691492 
    BQ063914 BQ689803 BP361940 BM839481 AA704505 AA399209 AA503528 BU542078 
    BQ678981 AL532112 AI400394 BX420719 BX385237 BE617055 AA429396 AF062481 
    BQ045301 BI753515 BE621211 AI183635 BQ061864 AU125047 AI685468 CA454869 
    AI969800 AU131563 H69324 BI831089 AA678013 BU147122 BQ061658 BM742248 
    BM725069 BM925715 AA599455 BI818896 BQ055786 BI913743 CA487686 BQ581603 
    BX352382 BU741969 BQ679622 CD611360 BQ066258 BG323886 AW806754 BQ687888 
    BI196559 AA599359 BP351289 BX091206 BM012656 BI757353 AU130637 BX496260 
    AA398257 BM047973 BM764545 AL520021 BU859819 AW235924 BX383615 CB134473 
    BI766210 AL532869 AW955945 BQ054698 BE898909 AU120973 BI752950 AI288677 
    BQ061656 BF088156 AI669821 AI878957 BF978932 BG698128 AL530229 BI757922 
    BP349412 AW580431 BP363730 BQ445837 BG748965 AA743498 BM042168 BG177941 
    AW006923 AW237004 BM747310 AU131193 BQ433352 AU130542 BM773303 CA488430 
    BI522679 BM712273 BM048543 AU132882 AU279983 BQ061700 BM468769 CA455217 
    BE740791 BQ957187 BE076162 AA351881 AF067127 BP357137 BM472830 AU124614 
    AL556661 BU733438 BI821203 AL532817 BQ682246 AW027451 AU131531 BX435841 
    NM_001360 AU153527 AA313400 AI652764 W05001 AA282412 AI190356 BQ888385 
    CA446715 BU734264 AI689711 BQ721193 AI913455 BM821964 BE047742 BF982370 
    BU858183 BM742975 BI756953 AL526917 AI435048 BM827552 AI651625 BF970752 
    AU125910 AV702785 N57922 BX462277 BU627495 H59653 BP360511 BE293240 
    BM716312 BM548502 BI836249 BG740204 R50345 CA454979 BE378962 BI759064 
    BG749274 BG764819 BI826891 AU153407 BM547291 AF096305 BM927332 BE390816 
    AA300253 BQ062778 BU628238 AL119180 BE261725 AI651619 BM998500 AL557740 
    AI026700 AU132051 BE743234 BM917982 BM795204 BI762302 BF593713 BM045901 
    CD672847 BG910322 BQ070244 AA627585 BM797915 AL547161 BQ718966 BX384827 
    AU125061 BM046874 AU132038 BM981437 AA443525 CA454891 BI868736 AI359110 
    AA302341 BU542583 BG400867 BI819737 AF034544 AI888720 BF762217 AI567453 
    BQ686764 AI200950 CD369586 AL574612 AU131837 BQ069707 BG253318 AU131862 
    AA336925 CB156025 BG763442 BU733448 AU133292 BC000054 BE393891 AA357609 
    BU179087 BQ681314 BV179838 BQ896713 AL550863 BU944629 BM745004 BQ065944 
    BP351181 BU855933 BI915276 H09665 AA683516 AI022413 AA328114 AL561845 
    AA464773 AU124763 BU737740 AA017353 BE313736 BI916544 BF038048 BQ645826 
    CA489871 AI690960 BU155503 BE314716 BX330927 AA292187 AA514515 F08418 
    BE742901 BU731973 AW085492 R50008 BM752550 CF132489 BX452612 BE909071 
    BQ691552 AA160364 BF034259 BP350989 BQ222440 AU154328 H97015 BX364742 
    BI199100 BP360838 BE502142 BI195715 BP373702 BE395197 BM798482 AI285221 
    BE312456 AW150953 BE260592 AA781972 R16081 W87479 BX458169 BF824929 
    AW806574 AI042444 AI903797 AL582191 AA188795 BU150016 BE549329 BX400606 
    AU152984 AU153503 BF361700 BE537695 BP429401 AL527076 BU677146 AW939298 
    BP383618 AA188832 N70359 BI199096 AW248123 BF092024 AU146897 AA923356 
    AW068650 AI370888 AU152551 H59613 AU153257 BF800485 BM753430 N68101 
    AI034087 AA070844 BG164655 AU153260 BX453745 AL578871 BU838690 AU153285 
    W87472 AA464182 W87507 AA017586 H04989 BM983074 AW295514 BI197569 
    AU152459 H69421 AU149475 AU153668 AU148792 AL572219 BG391556 AW997153 
    BQ581929 AU148438 BX364741 T47284 AL560842 BE076148 AU153147 BE393459 
    BQ299950 AU148801 AU098828 R61101 AA160454 H04990 AA471295 BX334102 
    BQ065902 R88150 BE880588 BI915936 BX438503 CD611361 BF030167 BG255397 
    AU154658 T67482 BX452611 AL564280 BF088189 H09710 BM042736 R87706 
    BI826599 AA566025 T67599 CA489529 BQ331149 BF850378 R61824 BF760961 
    BX362657 BF817269 BI832298 BQ642967 BG169185 BM544155 BX387563 BQ677782 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for DHCR7 (see all 11)    About this scheme

    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:                                -     -                             -                                                                                 


    ECgene alternative splicing isoforms for DHCR7

    Expression
    for DHCR7 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DHCR7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCGTTTCCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See DHCR7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DHCR7

    SOURCE GeneReport for Unigene cluster: Hs.503134

    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
    Tissue specificity: Most abundant in adrenal gland, liver, testis, and brain

        SABiosciences Expression via Pathway-Focused PCR Array including DHCR7: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for DHCR7 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DHCR7 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DHCR71 7-dehydrocholesterol reductase 72.66(n)
    78.95(a)    		   422982  NM_001199490.1  NP_001186419.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DHCR76
    		 --
    		 74(a)
    		 1 ↔ 1
    		 1(56044720-56055067)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC054203.12   -- 76.1(n)    BC054203.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dhcr72 7-dehydrocholesterol reductase 78.74(n)   378446  BC055631.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons DWF51 7-dehydrocholesterol reductase 46.71(n)
    37.74(a)    		   841465  NM_103926.5  NP_175460.1 
    rice
    (Oryza sativa)    		 Liliopsida Os02g04654001 hypothetical protein 49.28(n)
    39.13(a)    		   4329318  NM_001053344.1  NP_001046809.1 


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

    Paralogs
    for DHCR7 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DHCR7 gene
    LBR2  TM7SF22  
    2 SIMAP similar genes for DHCR7 using alignment to 11 protein entries:     DHCR7_HUMAN (see all proteins):
    LBR    TM7SF2

    DHCR7 for paralogs           About GeneDecksing



    Genomic Variants
    for DHCR7 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/405 NCBI SNPs in DHCR7 are shown (see all 405)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048860331,2
    		Cpathogenic100501683(-) GCCCAA/GTGGCT 4 M V mis10--------
    rs1219097671,2
    		Cpathogenic100501685(-) CCAATG/AGCTGC 4 /I /M mis11Minor allele frequency- A:0.00NA 4552
    rs803388531,2
    		Cpathogenic100502599(-) TATAAC/TGAGGA 4 T M mis11Minor allele frequency- T:0.00NA 4538
    rs1048860391,2
    		Cpathogenic100502613(-) CCGCCC/TAGCTC 4 Q * stg11Minor allele frequency- T:0.00EU 1225
    rs115552171,2
    		C,Fpathogenic100505234(-) AGCCTA/C/GGCTCC 6 * S W stg1 mis15EA NA EU 5987
    rs1048942131,2
    		Cpathogenic100505235(-) GCCTGA/GCTCCT 4 * W stg10--------
    rs803388561,2
    		Cpathogenic100507649(-) ATGGGC/TGCCCC 4 R C mis11Minor allele frequency- T:0.00NA 4548
    rs803388571,2
    		Cpathogenic100507650(-) TGGGCA/GCCCCG 4 H R mis10--------
    rs1048942121,2
    		Cpathogenic100507669(-) GCCTGG/TACCCT 4 W C mis10--------
    rs803388581,2
    		C,pathogenic100508766(-) CACTTC/G/TGGGTG 6 F L mis1 syn11NA 4552

    HapMap Linkage Disequilibrium report for DHCR7 (71139239 - 71163914 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DHCR7: --
    Human Gene Mutation Database (HGMD): DHCR7

    Locus Specific Mutation Databases (LSDB): DHCR7

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DHCR7
    DNA2.0 Custom Variant and Variant Library Synthesis for DHCR7

    Disorders / Diseases
    for DHCR7 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DHCR7 for disorders           About GeneDecksing

    OMIM gene information: 602858   
    OMIM disorders: 270400  
    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
  • Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]; also known as SLO syndrome
    • or RSH syndrome. SLOS is an autosomal recessive frequent inborn disorder of sterol metabolism with characteristic
    congenital malformations and dysmorphias. All patients suffer from 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

    20/24 diseases for DHCR7 (see all 24):    About MalaCards
    smith-lemli-opitz syndrome    holoprosencephaly    syndactyly    cholesterol
    craniofacial anomalies    atrioventricular septal defect    attention deficit hyperactivity disorder    cleft lip/palate
    patent ductus arteriosus    developmental disabilities    cleft lip    mental retardation syndrome
    intellectual disability    myotonic dystrophy    renal agenesis    ectrodactyly
    germinoma    hirschsprung's disease    polydactyly    microcephaly

    5 diseases from the University of Copenhagen DISEASES database for DHCR7:
    Smith-Lemli-Opitz syndrome     Intellectual disability     Syndactyly     Holoprosencephaly
    Atrioventricular septal defect

    9 Novoseek disease relationships for DHCR7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smith-lemli-opitz syndrome 98.9 116 16392899 (3), 11298379 (2), 19406241 (2), 18249054 (2) (see all 75)
    anomaly congenital multiple 88.5 16 10719329 (1), 10899806 (1), 8863875 (1), 11175299 (1) (see all 12)
    mental retardation 77.1 14 10719329 (1), 10899806 (1), 18951487 (1), 8863875 (1) (see all 11)
    holoprosencephaly 74.8 4 8989473 (1), 19449411 (1), 9358606 (1)
    growth failure 50.7 4 10719329 (1), 11001806 (1), 10951458 (1)
    congenital malformation 49.7 2 10329655 (1), 10814720 (1)
    craniofacial anomaly 47.1 1 11001806 (1)
    developmental disabilities 42.9 3 16814115 (1), 11111101 (1)
    genetic disorder 35.4 2 10814720 (1), 11352988 (1)

    GeneTests: DHCR7
    Smith-Lemli-Opitz Syndrome

    Genetic Association Database (GAD): DHCR7
    Human Genome Epidemiology (HuGE) Navigator: DHCR7 (18 documents)

    Export disorders for DHCR7 gene to outside databases

    Publications
    for DHCR7 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DHCR7 gene, integrated from 9 sources (see all 169):
    (articles sorted by number of sources associating them with DHCR7)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. (PubMed id 9634533)1, 2, 3, 9 Wassif C.A.... Porter F.D. (1998)
    2. Molecular cloning and expression of the human delta7-sterol reductase. (PubMed id 9465114)1, 2, 3 Moebius F.F.... Glossmann H. (1998)
    3. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli- Opitz syndrome in Europe: evidence for different origins of common mutations. (PubMed id 11175299)1, 2, 9 Witsch-Baumgartner M.... Utermann G. (2001)
    4. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). (PubMed id 15954111)1, 2, 9 Waye J.S.... Porter F.D. (2005)
    5. Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. (PubMed id 11427181)1, 2, 9 Jira P.E....Waterham H.R. (2001)
    6. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene. (PubMed id 9683613)1, 2, 9 Waterham H.R.... Wanders R.J.A. (1998)
    7. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (PubMed id 15286151)1, 4, 9 Witsch-Baumgartner M....Utermann G. (2004)
    8. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome. (PubMed id 15521979)1, 4, 9 Ciara E....Krajewska-Walasek M. (2004)
    9. Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. (PubMed id 11503168)1, 4, 9 Nowaczyk M.J....Waye J.S. (2001)
    10. Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (PubMed id 10677299)1, 2, 9 Witsch-Baumgartner M.... Utermann G. (2000)

    External Searches for DHCR7 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DHCR7 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1717 HGNC: 2860 AceView: DHCR7 Ensembl:ENSG00000172893 euGenes: HUgn1717
    ECgene: DHCR7 Kegg: 1717 H-InvDB: DHCR7

    Other Databases showing DHCR7 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DHCR7 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DHCR7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DHCR7

    Intellectual Property
    for DHCR7 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DHCR7 gene:
    Search GeneIP for patents involving DHCR7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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