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

HSD3BP4 Gene

pseudogene   GIFtS: 26
GCID: GC01P120106

Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta, Pseudogene...

Microbiology & Infectious Diseases Congress
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta, Pseudogene 41 2

External Ids:    HGNC: 52221   Entrez Gene: 1281022   Ensembl: ENSG000002038557   
ORGUL members:         
NONCODE14:n409391      

Export aliases for HSD3BP4 gene to outside databases

Previous GC identifer: GC01U990089


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

GeneCards Summary for HSD3BP4 Gene: 
HSD3BP4 (hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with HSD3BP4 include 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia, and congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.


(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_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for HSD3BP4
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HSD3BP4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3BP4


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

Entrez Gene cytogenetic band: 1p13.1   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

HSD3BP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD3BP4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P120106:  view genomic region     (about GC identifiers)

Start:
120,106,503 bp from pter      End:
120,115,199 bp from pter
Size:
8,697 bases      Orientation:
plus 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: --
Post-translational modifications:
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_

  • HSD3BP4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

    Human Recombinant Protein Products for HSD3BP4: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
      --

    (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:
         Genatlas biochemistry entry for HSD3BP4:
    hydroxysteroid 3-beta dehydrogenase/steroid delta 5-delta 4 isomerase, pseudogene 4

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSD3BP4 
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD3BP4

    (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

    HSD3BP4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSD3BP4

    10/45 Novoseek inferred chemical compound relationships for HSD3BP4 gene (see all 45)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysteroid 98.8 380 8456898 (4), 7984541 (4), 1639345 (3), 7951484 (3) (see all 99)
    17-hydroxypregnenolone 92.1 11 8456898 (1), 1339198 (1), 7758231 (1), 8045980 (1) (see all 6)
    dhea 85.6 18 7873453 (1), 8855801 (1), 1339198 (1), 8501162 (1) (see all 16)
    trilostane 84.7 9 8045986 (2), 1828176 (1), 8194632 (1), 8882291 (1) (see all 8)
    17-hydroxyprogesterone 84 3 1339198 (1), 1668983 (1), 8106610 (1)
    epostane 82.9 5 1996619 (1), 1300055 (1), 1500839 (1)
    androstenedione 82.1 6 17548088 (2), 1846006 (1), 2026751 (1), 8557160 (1)
    17beta-hydroxysteroid 78.1 17 11375796 (2), 8387158 (2), 7892288 (1), 8737913 (1) (see all 15)
    dehydroepiandrosterone sulfate 76 8 2146126 (1), 7962271 (1), 2143469 (1), 8855801 (1) (see all 7)
    steroid 75 21 8943800 (1), 8964869 (1), 8316254 (1), 8525490 (1) (see all 20)

    Search CenterWatch for drugs/clinical trials and news about HSD3BP4

    (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

    Unigene Cluster for HSD3BP4:

    Hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4
    Hs.681806  [show with all ESTs]
    Unigene Representative Sequence: NR_033781
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511509 ENST00000335580(uc021osu.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HSD3BP4
    Clone
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    Primer
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      Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSD3BP4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSD3BP4

    Additional mRNA sequence: 

    AF252254.1 NR_033781.1 

    5 DOTS entries:

    DT.455031  DT.104113  DT.117306  DT.75196507  DT.91973341 

    3 AceView cDNA sequences:

    AF252254 AI458266 BX115630 

    GeneLoc Exon Structure


    (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

    HSD3BP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HSD3BP4 Expression
    About this image


    SOURCE GeneReport for Unigene cluster: Hs.681806
        SABiosciences Custom PCR Arrays for HSD3BP4
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3BP4

    (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
      --

    ENSEMBL Gene Tree for HSD3BP4 (if available)
    TreeFam Gene Tree for HSD3BP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/313 SNPs in HSD3BP4 are shown (see all 313)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs587177091,2
    C,F--120104991(+) AGAAAG/ATAGTT 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1491463281,2
    --120105034(+) ATTAGC/TCAATA 1 -- us2k10--------
    rs1422854641,2
    --120105046(+) CAGGCA/GGAAAA 1 -- us2k10--------
    rs1512397931,2
    C--120105049(+) GCAGAA/GAAGAA 1 -- us2k10--------
    rs7326231,2
    C,F,H--120105058(+) AACTGT/CCTGCA 1 -- us2k19Minor allele frequency- C:0.07NS EA NA WA CSA 544
    rs1418715881,2
    --120105151(+) GAGATA/CTGGGC 1 -- us2k10--------
    rs1471022021,2
    --120105294(+) TTGCTA/GAGAAT 1 -- us2k10--------
    rs1894132301,2
    --120105313(+) ACCCAA/GAAATA 1 -- us2k10--------
    rs1385093251,2
    --120105362(+) GCATAA/CAACCA 1 -- us2k10--------
    rs1809076881,2
    --120105491(+) CGTTTG/TAAAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HSD3BP4 (120106503 - 120115199 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for HSD3BP4 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv65e199CNV Deletion23128226
    dgv42e201CNV Deletion23290073
    esv2716807CNV Deletion23290073
    esv2716784CNV Deletion23290073
    esv2600511CNV Deletion19546169
    nsv872176CNV Loss21882294
    nsv463306CNV Loss19166990
    esv23971CNV Loss19812545
    esv5682CNV Loss19470904
    nsv872178CNV Gain21882294

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    (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
    20/35 diseases for HSD3BP4 (see all 35):    About MalaCards
    3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia    congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency    late-onset congenital adrenal hyperplasia    3-beta-hydroxysteroid dehydrogenase deficiency
    pseudohermaphroditism    smith-lemli-opitz syndrome    hyperandrogenism    sertoli-leydig cell tumor
    leydig cell tumor    cushing's syndrome    polycystic ovary syndrome    ovarian cyst
    gynecomastia    adrenocortical carcinoma    gonadal dysgenesis    choriocarcinoma
    addison's disease    premature ovarian failure    vaginitis    prolactinoma


    HSD3BP4 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/26 Novoseek inferred disease relationships for HSD3BP4 gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal hyperplasia congenital 84.3 22 11344940 (2), 8316254 (2), 7951484 (2), 2362435 (1) (see all 19)
    pseudohermaphroditism male 70.4 2 1879398 (1), 8481355 (1)
    hyperandrogenism 65.9 9 8456898 (3), 7984541 (3), 8000336 (1), 1330378 (1)
    virilization 63.4 2 8112725 (1), 9059565 (1)
    adenoma adrenocortical 60.2 2 1448379 (1), 8288710 (1)
    cushing syndrome 60 3 2146126 (1), 2219621 (1), 8288710 (1)
    polycystic ovary syndrome 58.4 7 1832519 (2), 10813104 (1), 1968168 (1), 1295433 (1) (see all 5)
    enzyme deficiency 57.9 1 9880115 (1)
    oligomenorrhea 56.5 1 9030967 (1)
    thecoma 51.7 1 1700972 (1)


    Export disorders for HSD3BP4 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 HSD3BP4 gene, integrated from 9 sources (see all 252):
    (articles sorted by number of sources associating them with HSD3BP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and physical mapping of the 3beta-hydroxysteroid dehydrogenase gene cluster (HSD3BP1-HSD3BP5) in human. (PubMed id 10552929)1, 3 McBride M.W....Sutcliffe R.G. (1999)
    2. New members of the 3 beta-hydroxysteroid dehydrogenase gene family. (PubMed id 7603471)1, 9 McBride M.W.... Sutcliffe R.G. (1995)
    3. Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. (PubMed id 7588414)1, 9 Russell A.J.... Sutcliffe R.G. (1995)
    4. Pubertal changes in testicular 3 beta-hydroxysteroid dehydrogenase activity in a male with classical 3 beta-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation. (PubMed id 9251925)9 Yoshimoto M....Sasano H. (1997)
    5. [Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency] (PubMed id 7984541)9 Meer A....Lifchitz E. (1994)
    6. 3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism. (PubMed id 8456898)9 Azziz R....Boots L.R. (1993)
    7. Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency. (PubMed id 9029734)9 Morel Y....Simard J. (1997)
    8. Affinity labeling identifies histidine at the active site of human placental 3 beta-hydroxysteroid dehydrogenase and steroid 5-->4-ene-isomerase. (PubMed id 8475968)9 Strickler R.C. and Thomas J.L. (1993)
    9. A case of late-onset congenital adrenal hyperplasia d ue to partial 3 beta-hydroxysteroid dehydrogenase deficiency. (PubMed id 7951484)9 Hattori N....Kurahachi H. (1993)
    10. Purification of 3 alpha-hydroxysteroid and 3 beta-hydroxysteroid dehydrogenases from human liver cytosol. (PubMed id 1639345)9 Takikawa H....Yamanaka M. (1992)

    (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: 128102 HGNC: 5222 AceView: LOC128102 Ensembl:ENSG00000203855 euGenes: HUgn128102
    ECgene: HSD3BP4 H-InvDB: HSD3BP4

    (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 HSD3BP4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD3BP4 gene:
    Search GeneIP for patents involving HSD3BP4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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