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

HSD3B7 Gene

protein-coding   GIFtS: 55
GCID: GC16P030997

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid...

 Explore 13 diseases affiliated with
HSD3B7 via our new
 Human Malady Compendium 
Biological research products
for HSD3B7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase
71 2
     PFIC42 5
C(27)-3BETA-HSD1 2     3 Beta-Hydroxy-Delta 5-C27-Steroid Oxidoreductase2
SDR11E31 2     3 Beta-Hydroxysteroid Dehydrogenase Type 72
C(27) 3-Beta-HSD2 3     CBAS12
Cholest-5-Ene-3-Beta,7-Alpha-Diol 3-Beta-Dehydrogenase2 3     Short Chain Dehydrogenase/Reductase Family 11E, Member 32
3 Beta-Hydroxysteroid Dehydrogenase Type VII2 3     EC 1.1.1.-3
3-Beta-HSD VII2 3     EC 1.1.1.1813
3-Beta-Hydroxy-Delta(5)-C27 Steroid Oxidoreductase2 3     

External Ids:    HGNC: 183241   Entrez Gene: 802702   Ensembl: ENSG000000993777   OMIM: 6077645   UniProtKB: Q9H2F33   

Export aliases for HSD3B7 gene to outside databases

Previous GC identifers: GC16P031493 GC16P030993 GC16P031032 GC16P030905 GC16P030907 GC16P028558


(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 HSD3B7:
This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and
a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated
endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene
are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive
liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Dec 2008)

UniProtKB/Swiss-Prot: 3BHS7_HUMAN, Q9H2F3
Function: The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids
as substrates. Involved in bile acid synthesis




(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD3B7 gene promoter:
         c-Fos   AhR   AP-1   MIF-1   Arnt   E47   Hand1   c-Jun   Zic3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD3B7 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD3B7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3B7


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

HSD3B7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD3B7 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P030997:  view genomic region     (about GC identifiers)

Start:
30,996,519 bp from pter      End:
31,000,473 bp from pter
Size:
3,955 bases      Orientation:
plus strand

(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: 3BHS7_HUMAN, Q9H2F3 (See protein sequence)
Recommended Name: 3 beta-hydroxysteroid dehydrogenase type 7  
Size: 369 amino acids; 41016 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: Q96M28 Q9BSN9
Alternative splicing: 2 isoforms:  Q9H2F3-1   Q9H2F3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HSD3B7: NX_Q9H2F3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H2F3

  • HSD3B7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001136249.1  NP_001136250.1  NP_079469.2  

    ENSEMBL proteins: 
     ENSP00000262520   ENSP00000297679   ENSP00000459852   ENSP00000459689   ENSP00000370662  
    Reactome Protein details: Q9H2F3
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0016021integral to membrane IEA--


    HSD3B7 for ontologies           About GeneDecksing



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

    HSD3B7 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002225 3Beta_OHSteriod_DH/Estase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9H2F3

    ProtoNet protein and cluster: Q9H2F3

    1 Blocks protein family: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

    UniProtKB/Swiss-Prot: 3BHS7_HUMAN, Q9H2F3
    Similarity: Belongs to the 3-beta-HSD family


    (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: 3BHS7_HUMAN, Q9H2F3
    Function: The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
    HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids
    as substrates. Involved in bile acid synthesis
    Catalytic activity: 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = 3-oxo-Delta(5)-steroid + NADH
    Catalytic activity: Cholest-5-ene-3-beta,7-alpha-diol + NAD(+) = 7-alpha-hydroxycholest-4-en-3-one + NADH

    Enzyme Numbers (IUBMB): EC 1.1.1.1811 EC 1.1.1.-1

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity NAS11067870
    GO:0047016cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity IEA--


    HSD3B7 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for HSD3B7:
     Decreased viability with pacli  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Hsd3b7tm1Rus for HSD3B7
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hsd3b7):
     digestive/alimentary  growth/size  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging 

    HSD3B7 for phenotypes           About GeneDecksing


    (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
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts1.00
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.53
    Primary bile acid biosynthesis0.84
    bile acid biosynthesis, neutral pathway0.52
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.79
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.37
    Bile acid and bile salt metabolism0.70
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for HSD3B7 
        bile acid biosynthesis, neutral pathway

    5/7        Reactome Pathways for HSD3B7 (see all 7)
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol


    2         Kegg Pathways  (Kegg details for HSD3B7):
        Primary bile acid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: 3BHS7_HUMAN, Q9H2F3
    Pathway: Lipid metabolism; steroid biosynthesis


    HSD3B7 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD3B7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/12 Interacting proteins for HSD3B7 (Q9H2F33 ENSP000002976794) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLSCR1O151623I2D: score=1 
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    CYP39A1ENSP000002750164STRING: ENSP00000275016
    CYP7A1ENSP000003016454STRING: ENSP00000301645
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth ----
    GO:0006694steroid biosynthetic process ----
    GO:0006699bile acid biosynthetic process TAS--
    GO:0008206bile acid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    HSD3B7 for ontologies           About GeneDecksing



    (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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HSD3B7

    5 HMDB Compounds for HSD3B7    About this table
    CompoundSynonyms CAS #PubMed Ids
    7 alpha,24-Dihydroxy-4-cholesten-3-one ----
    7 alpha,26-Dihydroxy-4-cholesten-3-one4-cholesten-7alpha,26-diol-3-one (see all 5)4675-38-1--
    Campest-4-en-3-one(24R)-ergost-4-en-3-one ----
    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--
    Search CenterWatch for drugs/clinical trials and news about HSD3B7 / 3BHS7 

    (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,
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    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 HSD3B7 gene (3 alternative transcripts): 
    NM_001142777.1  NM_001142778.1  NM_025193.3  

    Unigene Cluster for HSD3B7:

    Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
    Hs.460618  [show with all ESTs]
    Unigene Representative Sequence: AL834347
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262520(uc002eag.2 uc002eah.2) ENST00000297679(uc002eaf.2)
    ENST00000562932 ENST00000574447 ENST00000353250(uc010cac.2)

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    Additional cDNA sequence: 

    AF277719.1 AK057436.1 AK290950.1 AK292068.1 AL834347.1 BC004929.1 

    6 DOTS entries:

    DT.443996  DT.95162070  DT.95162069  DT.100789904  DT.100789906  DT.100789900 

    24/90 AceView cDNA sequences (see all 90):

    F04463 BF001664 AI685254 F06983 CD369063 BF570301 NM_025193 BC004929 
    BM744211 BX379834 BM756534 BQ222554 BX352425 AW291942 AI308077 AI191086 
    BF337229 BE393409 AA514664 AA410523 AU279712 CA413388 AF277719 BQ689480 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HSD3B7 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:              -     -     -           -                                                   
    SP2:                                      -                                   -               
    SP3:              -     -     -           -                                                   
    SP4:              -                       -                                                   
    SP5:              -     -                 -                                                   


    ECgene alternative splicing isoforms for HSD3B7

    (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

    HSD3B7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGTTCCTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HSD3B7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD3B7

    SOURCE GeneReport for Unigene cluster: Hs.460618
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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)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for HSD3B7 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves F1NGY4_CHICK6
    Uncharacterized protein
    39(a)
    1 ↔ 1
    19(3649223-3660872)
    lizard
    (Anolis carolinensis)
    Reptilia HSD3B76
    --
    65(a)
    1 ↔ 1
    GL343220.1(1946764-1963272)
    zebrafish
    (Danio rerio)
    Actinopterygii wufi12g102 wufi12g10 72.88(n)   327462  BC045457.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77246
    --
    21(a)
    1 → many
    3L(17048713-17051633)
    worm
    (Caenorhabditis elegans)
    Secernentea hsd-36
    hsd-26
    (see all 3)
    --
    HydroxySteroid Dehydrogenase homolog family member...
    (see all 3)
    21(a)
    20(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    X(5009269-5011191)
    X(5005238-5006993)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ybjS6
    predicted NAD(P)H-binding oxidoreductase with NAD(...
    19(a)
    1 → many
    Chromosome(904963-905976)


    ENSEMBL Gene Tree for HSD3B7 (if available)
    TreeFam Gene Tree for HSD3B7 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD3B7 gene
    SDR42E12  HSD3B22  SDR42E22  HSD3B12  NSDHL2  
    3 SIMAP similar genes for HSD3B7 using alignment to 3 protein entries:     3BHS7_HUMAN (see all proteins):
    HSD3B1    3-HSD 1    HSD3B2

    HSD3B7 for paralogs           About GeneDecksing



    (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

    10/100 NCBI SNPs in HSD3B7 are shown (see all 100    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945181,2
    Cpathogenic28560389(+) GCAACA/GAAGAC 6 K E mis10--------
    rs799747991,2
    C,--28559251(+) CTCTCC/TGTAAC 3 -- ut51 int12Minor allele frequency- T:0.08NA 122
    rs773477211,2
    F,--28560042(+) TTGGCC/GTTGAC 3 -- int11Minor allele frequency- G:0.03NA 120
    rs2018603291,2
    C--28560823(+) GCAGGA/GGGACT 3 -- int10--------
    rs770282341,2
    C,F,--28561099(+) CGCATC/GTATAA 3 -- int13Minor allele frequency- G:0.03NA 124
    rs791252631,2
    C,--28561270(+) AGGTCA/CCCTGC 3 -- int10--------
    rs125972911,2
    C,H--28561779(+) GCTGCG/AGCCAC 4 /Q /R mis1 ut31 ese35Minor allele frequency- A:0.00NS EA NA 418
    rs748969841,2
    C,--28562701(+) CCTCCA/CGCCAC 3 -- ut310--------
    rs758230601,2
    C,F,--28563377(+) ACACAC/TGCCAA 3 -- ds50011Minor allele frequency- T:0.02EA 120
    rs2007784251,2
    --30996868(+) GCCCT-/CCCCGC 3 -- int1 ut510--------

    HapMap Linkage Disequilibrium report for HSD3B7 (30996519 - 31000473 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for HSD3B7
         2 CNVs: 4942 4941
    Human Gene Mutation Database (HGMD): HSD3B7

    SABiosciences Cancer Mutation 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.)
    About This Section

    HSD3B7 for disorders           About GeneDecksing

    OMIM gene information: 607764   
    OMIM disorders: 607765  
    UniProtKB/Swiss-Prot: 3BHS7_HUMAN, Q9H2F3
  • Defects in HSD3B7 are the cause of congenital bile acid synthesis defect type 1 (CBAS1) [MIM:607765]; also
  • known as neonatal progressive intrahepatic cholestasis. CBAS1 is due to a primary defect in bile synthesis leading to
    progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis and cirrhosis

    13 diseases for HSD3B7:    About MalaCards
    congenital bile acid synthesis defect    cholestasis    cholestasis, progressive familial intrahepatic 4    liver disease
    neonatal jaundice    giant cell hepatitis    intrahepatic cholestasis    jaundice
    cholesterol    hepatitis    tuberculosis    neuronitis
    mycobacterium tuberculosis

    2 Novoseek disease relationships for HSD3B7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholestasis 69.5 1 12679481 (1)
    liver diseases 40.5 4 12679481 (1), 17645593 (1)

    Human Genome Epidemiology (HuGE) Navigator: HSD3B7 (1 document)

    Export disorders for HSD3B7 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 HSD3B7 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with HSD3B7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The bile acid synthetic gene 3beta-hydroxy-delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. (PubMed id 11067870)1, 2, 3 Schwarz M....Russell D.W. (2000)
    2. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. (PubMed id 12679481)1, 2, 9 Cheng J.B....Russell D.W. (2003)
    3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Homozygosity mapping identifies a bile acid biosynthet ic defect in an adult with cirrhosis of unknown etiology. (PubMed id 22095780)1 Molho-Pessach V....Hobbs H.H. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Molecular genetic and bile acid profiles in two Japan ese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase defi ciency. (PubMed id 20531254)1 Mizuochi T....Matsuishi T. (2010)
    9. An integrative method for scoring candidate genes fro m association studies: application to warfarin dosing. (PubMed id 21044367)1 Tatonetti N.P....Altman R.B. (2010)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80270 HGNC: 18324 AceView: HSD3B7 Ensembl:ENSG00000099377 euGenes: HUgn80270
    ECgene: HSD3B7 Kegg: 80270 H-InvDB: HSD3B7

    (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 HSD3B7 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 HSD3B7 gene:
    Search GeneIP for patents involving HSD3B7

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



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