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HSD3B7 Gene

protein-coding   GIFtS: 57
GCID: GC16P030997

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

  See HSD3B7-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- And Steroid
Delta-Isomerase 71 2
     3 Beta-Hydroxy-Delta 5-C27-Steroid Oxidoreductase2
C(27) 3-Beta-HSD2 3     3 Beta-Hydroxysteroid Dehydrogenase Type 72
Cholest-5-Ene-3-Beta,7-Alpha-Diol 3-Beta-Dehydrogenase2 3     C(27)-3BETA-HSD2
3 Beta-Hydroxysteroid Dehydrogenase Type VII2 3     PFIC42
3-Beta-HSD VII2 3     SDR11E32
3-Beta-Hydroxy-Delta(5)-C27 Steroid Oxidoreductase2 3     Short Chain Dehydrogenase/Reductase Family 11E, Member 32
CBAS12 5     EC 1.1.1.-3
Member 31     EC 1.1.1.1813
Short Chain Dehydrogenase/Reductase Family 11E1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HSD3B7 Gene:
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)

GeneCards Summary for HSD3B7 Gene:
HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7) is a protein-coding gene. Diseases associated with HSD3B7 include bile acid synthesis defect, congenital, 1, and congenital bile acid synthesis defect. GO annotations related to this gene include cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity and 3-beta-hydroxy-delta5-steroid dehydrogenase activity. An important paralog of this gene is SDR42E1.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for HSD3B7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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/Swiss-Prot: 3BHS7_HUMAN, Q9H2F3 (See protein sequence)
Recommended Name: 3 beta-hydroxysteroid dehydrogenase type 7  
Size: 369 amino acids; 41016 Da
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

Explore proteomics data for HSD3B7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HSD3B7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    2 InterPro protein domains:
     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 domain: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

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


    Find genes that share domains with HSD3B7           About GenesLikeMe


    (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:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity NAS11067870
    GO:0008831dTDP-4-dehydrorhamnose reductase activity ----
    GO:0016491oxidoreductase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
         
    Find genes that share ontologies with HSD3B7           About GenesLikeMe


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

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hsd3b7):
     digestive/alimentary  growth/size/body  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging 

    Find genes that share phenotypes with HSD3B7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hsd3b7tm1Rus for HSD3B7

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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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    Subcellular locations from UniProtKB/Swiss-Prot
    3BHS7_HUMAN, Q9H2F3: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with HSD3B7           About GenesLikeMe


    (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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    SuperPaths for HSD3B7 About    
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Primary bile acid biosynthesis0.00
    Bile acid and bile salt metabolism0.73
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    bile acid biosynthesis, neutral pathway0.48
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with HSD3B7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HSD3B7
        bile acid biosynthesis, neutral pathway

    3 Reactome Pathways for HSD3B7
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Synthesis of bile acids and bile salts via 27-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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HSD3B7
    Interactions:

        Search GeneGlobe Interaction Network for HSD3B7

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

    Selected Interacting proteins for HSD3B7 (Q9H2F33 ENSP000002976794) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLSCR1O151623I2D: score=1 
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    C14orf1ENSP000002563194STRING: ENSP00000256319
    FDFT1ENSP000002205844STRING: ENSP00000220584
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process ----
    GO:0006699bile acid biosynthetic process TAS11067870
    GO:0008152metabolic process ----
    GO:0008206bile acid metabolic process TAS--
    GO:0009058biosynthetic process ----

    Find genes that share ontologies with HSD3B7           About GenesLikeMe



    (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 HSD3B7 (3BHS7)

    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--



    (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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    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 mRNA 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 

    Selected AceView cDNA sequences (see all 90):

    AI685254 BM744211 BF001664 F06983 BF570301 NM_025193 BC004929 CD369063 
    BX379834 F04463 BM756534 BQ927271 BQ650163 BM019701 BM989438 AU279712 
    BQ053078 AA614299 BE389320 BG748935 AW291942 AW083523 BF569876 BQ689480 

    GeneLoc Exon Structure

    Selected 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™, 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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    HSD3B7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTCCTGG
    HSD3B7 Expression
    About this image


    HSD3B7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Heart (Cardiovascular System)
    HSD3B7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSD3B7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460618
        Custom PCR Arrays for HSD3B7
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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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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HSD3B7 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd3b71 , 5 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and more1, 5 83.83(n)1
    86.99(a)1
      7 (69.74 cM)5
    1015021  NM_133943.21  NP_598704.21 
     1277856085 
    chicken
    (Gallus gallus)
    Aves HSD3B76
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and...
    39(a)
    1 ↔ 1
    19(3686359-3698427)
    lizard
    (Anolis carolinensis)
    Reptilia HSD3B76
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and...
    65(a)
    1 ↔ 1
    GL343220.1(1914842-1967478)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hsd3b71 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and more 63.55(n)
    62.61(a)
      100145626  NM_001127029.1  NP_001120501.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi12g102 wufi12g10 72.88(n)   327462  BC045457.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77246
    --
    25(a)
    1 → many
    3L(17048713-17051633)
    worm
    (Caenorhabditis elegans)
    Secernentea C32D5.126
    Protein C32D5.12 (C32D5.12) mRNA, complete cds
    20(a)
    1 → many
    II(6356416-6359005) WBGene00016319
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG266
    C-3 sterol dehydrogenase, catalyzes the second of ...
    27(a)
    1 → many
    VII(495453-496502) YGL001C


    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

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    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

    Find genes that share paralogs with HSD3B7           About GenesLikeMe



    (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)
    About This Section

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    Selected SNPs for HSD3B7 (see all 147)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0547754
    Congenital bile acid synthesis defect 1 (CBAS1)4--see VAR_0547752 G S mis40--------
    VAR_0547764
    Congenital bile acid synthesis defect 1 (CBAS1)4--see VAR_0547762 E K mis40--------
    rs1048945181,2
    Cpathogenic131998772(+) GCAACA/GAAGAC 6 K E mis10--------
    rs2016133901,2
    --30996872(+) CCCCG-/CCAAAC 3 -- ut51 int10--------
    rs799747991,2
    C--31997633(+) CTCTCC/TGTAAC 3 -- ut51 int12Minor allele frequency- T:0.08NA 122
    rs2007784251,2
    --31997706(+) GCCCT-/CCCCGC 3 -- ut51 int10--------
    rs124438081,2
    C,A,H--31997709(+) CTCCCG/CGCAAA 3 -- ut51 int17Minor allele frequency- C:0.38WA NA EA 366
    rs124436271,2
    C,F,H--31997710(+) TCCCCC/GCAAAC 3 -- ut51 int18Minor allele frequency- G:0.26WA NA CSA EA 368
    rs1907757151,2
    --31997725(+) AGCCTC/TGTCAC 3 -- ut51 int10--------
    rs2005551351,2
    C--31997825(+) TGGCCA/GACTCT 6 N D mis10--------

    HapMap Linkage Disequilibrium report for HSD3B7 (30996519 - 31000473 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for HSD3B7:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv35n68CNV Loss17160897
    nsv457483CNV Loss19166990
    dgv2671n71CNV Loss21882294
    nsv905729CNV Loss21882294
    nsv905733CNV Loss21882294
    nsv905739CNV Loss21882294
    dgv2670n71CNV Loss21882294
    nsv833193CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): HSD3B7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HSD3B7
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD3B7

    (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

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    OMIM gene information: 607764   
    OMIM disorders: 607765  
    UniProtKB/Swiss-Prot: 3BHS7_HUMAN, Q9H2F3
  • Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]: A primary defect in bile synthesis leading
    to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis,
    chirrosis. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for HSD3B7:    
    About MalaCards
    bile acid synthesis defect, congenital, 1    congenital bile acid synthesis defect    liver disease    cholestasis


    Find genes that share disorders with HSD3B7           About GenesLikeMe

    2 Novoseek inferred 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)
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    PubMed articles for HSD3B7 gene, integrated from 10 sources (see all 18):
    (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. (J. Clin. Invest. 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. (J. Clin. Endocrinol. Metab. 2003)
    3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Protein interactions of the transcription factor Hoxa1. (PubMed id 23088713)1 Lambert B....Rezsohazy R. (BMC Dev. Biol. 2012)
    7. Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology. (PubMed id 22095780)1 Molho-Pessach V....Hobbs H.H. (Hepatology 2012)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency. (PubMed id 20531254)1 Mizuochi T....Matsuishi T. (Pediatr. Res. 2010)

    (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: 80270 HGNC: 18324 AceView: HSD3B7 Ensembl:ENSG00000099377 euGenes: HUgn80270
    ECgene: HSD3B7 Kegg: 80270 H-InvDB: HSD3B7

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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

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    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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