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HSD3BP4 Gene

pseudogene   GIFtS: 20
GCID: GC01P120106

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

  See HSD3BP4-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)
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Aliases
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta, Pseudogene 41 2

External Ids:    HGNC: 52221   Entrez Gene: 1281022   Ensembl: ENSG000002038557   

Export aliases for HSD3BP4 gene to outside databases

Previous GC identifer: GC01U990089


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HSD3BP4 Gene:
HSD3BP4 (hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4) is a pseudogene. Diseases associated with HSD3BP4 include 3-beta-hydroxysteroid dehydrogenase deficiency, and late-onset congenital adrenal hyperplasia.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for HSD3BP4
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:
     Genatlas biochemistry entry for HSD3BP4:
hydroxysteroid 3-beta dehydrogenase/steroid delta 5-delta 4 isomerase, pseudogene 4

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HSD3BP4
Interactions:

    Search GeneGlobe Interaction Network for HSD3BP4

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HSD3BP4

Selected 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)



Find genes that share compounds with HSD3BP4           About GenesLikeMe



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000511509 ENST00000335580(uc021osu.1)
miRNA
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3 AceView cDNA sequences:

AF252254 BX115630 AI458266 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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

HSD3BP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
    Custom PCR Arrays for HSD3BP4
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In Situ
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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)
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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)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HSD3BP4 (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) Selected 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

Site Specific Mutation Identification with PCR Assays
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(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.)
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2 diseases for HSD3BP4:    
About MalaCards
3-beta-hydroxysteroid dehydrogenase deficiency    late-onset congenital adrenal hyperplasia


Find genes that share disorders with HSD3BP4           About GenesLikeMe

Selected 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)
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PubMed articles for HSD3BP4 gene, integrated from 10 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. (Genomics 1999)
  2. New members of the 3 beta-hydroxysteroid dehydrogenase gene family. (PubMed id 7603471)1, 9 McBride M.W....Sutcliffe R.G. (Mol. Cell. Probes 1995)
  3. Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase. (PubMed id 7588414)1, 9 Russell A.J.... Sutcliffe R.G. (Endocr. Res. 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. (Horm. Res. 1997)
  5. [Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency]. (PubMed id 7984541)9 Meer A....Lifchitz E. (Presse Med 1994)
  6. 3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism. (PubMed id 8456898)9 Azziz R....Boots L.R. (Am. J. Obstet. Gynecol. 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. (Steroids 1997)
  8. Affinity labeling identifies histidine at the active site of human placental 3 beta-hydroxysteroid dehydrogenase and steroid 5--&gt;4-ene-isomerase. (PubMed id 8475968)9 Strickler R.C. and Thomas J.L. (Am. J. Obstet. Gynecol. 1993)
  9. A case of late-onset congenital adrenal hyperplasia due to partial 3 beta-hydroxysteroid dehydrogenase deficiency. (PubMed id 7951484)9 Hattori N....Kurahachi H. (Endocr. J. 1993)
  10. Purification of 3 alpha-hydroxysteroid and 3 beta-hydroxysteroid dehydrogenases from human liver cytosol. (PubMed id 1639345)9 Takikawa H....Yamanaka M. (Hepatology 1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 128102 HGNC: 5222 AceView: LOC128102 Ensembl:ENSG00000203855 euGenes: HUgn128102
ECgene: HSD3BP4 H-InvDB: HSD3BP4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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.)
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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



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