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

DHCR7 Gene

protein-coding   GIFtS: 70
GCID: GC11M071145

7-Dehydrocholesterol Reductase

(Previous name: Smith-Lemli-Opitz syndrome)
(Previous symbol: SLOS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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


(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 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 syndactyly, and among its related super-pathways are Cholesterol biosynthesis and Metabolic pathways. GO annotations related to this gene include 7-dehydrocholesterol reductase activity. An important paralog of this gene is LBR.

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 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. 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) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for DHCR7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DHCR7 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001157289.1  NP_001351.2  

    ENSEMBL proteins: 
     ENSP00000432256   ENSP00000384739   ENSP00000347717   ENSP00000435011   ENSP00000435956  
     ENSP00000435047   ENSP00000435668   ENSP00000435707   ENSP00000432589   ENSP00000435058  
     ENSP00000436007  
    Reactome Protein details: Q9UBM7
    Human Recombinant Protein Products for DHCR7: 
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    OriGene Protein Over-expression Lysate for DHCR7
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    Novus Biologicals DHCR7 Protein
    Novus Biologicals DHCR7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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:0016020membrane ----
    GO:0016021integral to membrane IEA--

    DHCR7 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for DHCR7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001171 Ergosterol_biosynth_ERG4_ERG24
     IPR018083 Sterol_reductase_CS

    Graphical View of Domain Structure for InterPro Entry Q9UBM7

    ProtoNet protein and cluster: Q9UBM7

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


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


    DHCR7 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


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

         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

    Animal Models:
         MGI mouse knock-outs for DHCR7: Dhcr7tm1Gst Dhcr7tm1Fdp

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DHCR7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DHCR7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DHCR7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DHCR7 

    miRNA
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    Inhib. RNA
    Products:
        
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    GenScript: all cDNA clones in your preferred vector (see all 2): DHCR7 (NM_001360)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DHCR7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    superpathway of cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.59
    Cholesterol biosynthesis0.62
    Steroid biosynthesis0.48
    cholesterol biosynthesis III (via desmosterol)0.59
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    Activation of Gene Expression by SREBP (SREBF)0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    5        Reactome Pathways for DHCR7
        Metabolism
    Cholesterol biosynthesis
    Activation of Gene Expression by SREBP (SREBF)
    Metabolism of lipids and lipoproteins
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)


    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534795 ENST00000407721 ENST00000355527(uc001oqk.3 uc001oql.3)
    ENST00000533800 ENST00000525137 ENST00000527316 ENST00000534701 ENST00000526780
    ENST00000525346 ENST00000531364 ENST00000529990 ENST00000527452
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DHCR7

    Additional mRNA 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.100671595  DT.120742731 
    DT.91758253  DT.95181639  DT.95357168  DT.100033172  DT.100647913  DT.120742718  DT.40108063  DT.95290620 
    DT.95357178  DT.100837843  DT.95357166 

    440 AceView cDNA sequences (see top 24):

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

    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

    (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)      DHCR7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGTTTCCTT
    DHCR7 Expression
    About this image


    DHCR7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    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

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    (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 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhcr71 , 5 7-dehydrocholesterol reductase1, 5 84.85(n)1
    88.75(a)1
      7 (88.33 cM)5
    133601  NM_007856.21  NP_031882.11 
     1438231455 
    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
    Uncharacterized protein
    75(a)
    1 ↔ 1
    1(56029782-56055067)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG246
    C-14 sterol reductase, acts in ergosterol biosynth...
    29(a)
    1 → many
    XIV(109095-110411)
    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 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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/572 SNPs in DHCR7 are shown (see all 572)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0231814
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231812 H P mis40--------
    VAR_0231714
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231712 R Q mis40--------
    VAR_0231624
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231622 R C mis40--------
    VAR_0231564
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231562 S L mis40--------
    VAR_0231774
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231772 R S mis40--------
    VAR_0231764
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231762 S L mis40--------
    VAR_0231544
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231542 G D mis40--------
    VAR_0127254
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0127252 T I mis40--------
    VAR_0231634
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231632 R H mis40--------
    VAR_0231754
    Smith-Lemli-Opitz syndrome (SLOS)4--see VAR_0231752 C Y mis40--------

    HapMap Linkage Disequilibrium report for DHCR7 (71139239 - 71163914 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DHCR7:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv74n21CNV Loss19592680
    nsv897898CNV Loss21882294
    nsv518163CNV Loss19592680
    nsv897897CNV Loss21882294
    nsv897896CNV Gain21882294


    Human Gene Mutation Database (HGMD): DHCR7

    Locus Specific Mutation Databases (LSDB): DHCR7
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DHCR7
    DNA2.0 Custom Variant and Variant Library Synthesis for DHCR7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602858   
    OMIM disorders: 270400  
    UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/23 diseases for DHCR7 (see all 23):    About MalaCards
    smith-lemli-opitz syndrome    syndactyly    holoprosencephaly    germinoma
    atrioventricular septal defect    developmental disabilities    renal agenesis    patent ductus arteriosus
    mental retardation    hirschsprung's disease    attention deficit hyperactivity disorder    polydactyly
    myotonic dystrophy    cleft lip    cholestasis    microcephaly
    intellectual disability    osteosarcoma    type 1 diabetes    hypertension

    7 diseases from the University of Copenhagen DISEASES database for DHCR7:
    Smith-Lemli-Opitz syndrome     Syndactyly     Intellectual disability     Atrioventricular septal defect
    Holoprosencephaly     Polydactyly     Autosomal recessive disease

    DHCR7 for disorders           About GeneDecksing

    9 Novoseek inferred 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
    GeneReviews: DHCR7
    Genetic Association Database (GAD): DHCR7
    Human Genome Epidemiology (HuGE) Navigator: DHCR7 (18 documents)

    Export disorders for DHCR7 gene to outside databases

    (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 172):
    (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. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. (PubMed id 17965227)1, 4, 9 Witsch-Baumgartner M....Utermann G. (2008)
    5. 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)
    6. 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)
    7. 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)
    8. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations. (PubMed id 16497572)1, 4, 9 Ciara E....Krajewska-Walasek M. (2006)
    9. 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)
    10. 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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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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    About This Section

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     Proteins for DHCR7
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHCR7
     inGenious Targeting Laboratory - Custom generated mouse model solutions for DHCR7
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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