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NR0B1 Gene

protein-coding   GIFtS: 67
GCID: GC0XM030322

Nuclear Receptor Subfamily 0, Group B, Member 1

(Previous name: dosage-sensitive sex reversal)
(Previous symbols: AHC, DSS)
  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)
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Aliases
Nuclear Receptor Subfamily 0, Group B, Member 11 2     AHCH2
AHC1 2 3 5     DAX-12
DAX12 3 5     GTD2
DSS1 2     HHG2
Nuclear Receptor DAX-12 3     NROB12
DSS-AHC Critical Region On The X Chromosome Protein 12 3     Nuclear Hormone Receptor2
AHX2 5     Nuclear Receptor DAX12
SRXY22 5     Nuclear Receptor Subfamily 0 Group B Member 12
Dosage-Sensitive Sex Reversal1     

External Ids:    HGNC: 79601   Entrez Gene: 1902   Ensembl: ENSG000001692977   OMIM: 3004735   UniProtKB: P518433   

Export aliases for NR0B1 gene to outside databases

Previous GC identifers: GC0XM028821 GC0XM029006 GC0XM029524 GC0XM029683 GC0XM030082 GC0XM030232 GC0XM028059


(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 NR0B1 Gene:
This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative
regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an
anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital
adrenal hypoplasia and hypogonadotropic hypogonadism. (provided by RefSeq, Jul 2008)

GeneCards Summary for NR0B1 Gene:
NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a protein-coding gene. Diseases associated with NR0B1 include pyosalpinx, and dosage-sensitive sex reversal. GO annotations related to this gene include RNA binding and sequence-specific DNA binding. An important paralog of this gene is NR0B2.

UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843
Function: Orphan nuclear receptor. Component of a cascade required for the development of the
hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional
activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development
of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity)

Gene Wiki entry for NR0B1 (DAX1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NR0B1 gene promoter:
         Max1   AP-1   NRSF form 1   ATF-2   NRSF form 2   RORalpha1   PPAR-gamma1   PPAR-gamma2   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR0B1 promoter sequence
   Search Chromatin IP Primers for NR0B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NR0B1


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

Entrez Gene cytogenetic band: Xp21.3   Ensembl cytogenetic band:  Xp21.2   HGNC cytogenetic band: Xp21.3

NR0B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR0B1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM030322:  view genomic region     (about GC identifiers)

Start:
30,322,323 bp from pter      End:
30,327,715 bp from pter
Size:
5,393 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843 (See protein sequence)
Recommended Name: Nuclear receptor subfamily 0 group B member 1  
Size: 470 amino acids; 51718 Da
Subunit: Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2
Secondary accessions: Q96F69
Alternative splicing: 2 isoforms:  P51843-1   P51843-2   (More abundant than isoform 1 in all tissues tested except testis where they are nearly equal)

Explore the universe of human proteins at neXtProt for NR0B1: NX_P51843

Explore proteomics data for NR0B1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NR0B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000466.2  
    ENSEMBL proteins: 
     ENSP00000368253   ENSP00000368246   ENSP00000396403  
    Reactome Protein details: P51843

    NR0B1 Human Recombinant Protein Products:

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    NR0B1 Antibody Products:

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    Cloud-Clone Corp. CLIAs for NR0B1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: DAX1
    0B. DAX-like receptors

    4 InterPro protein domains:
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001723 Str_hrmn_rcpt
     IPR025900 Nuclear_receptor_repeat

    Graphical View of Domain Structure for InterPro Entry P51843

    ProtoNet protein and cluster: P51843

    1 Blocks protein domain: IPB001723 Steroid hormone receptor signature

    UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843
    Domain: Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and
    steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs
    Similarity: Belongs to the nuclear hormone receptor family. NR0 subfamily


    NR0B1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NR0B1_HUMAN, P51843
    Function: Orphan nuclear receptor. Component of a cascade required for the development of the
    hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional
    activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development
    of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity)

         Genatlas biochemistry entry for NR0B1:
    orphan nuclear (steroid/thyroid/retinoid) receptor,subfamily 0,member 1,dosage-sensitive sex reversal,adrenal
    hypoplasia congenita (DSS(SRVX)-AHC) critical region on the X chromosome,likely involved in testis and
    development,essential for the integrity of testicular germinal epithelium,not required for ovarian
    development,also expressed in the hypothalamus and pituitary,repressing STAR expression and suppressing
    steroidogenesis by binding to the STAR promoter,antagonizing testis determining factor SRY,also antagonizing
    synergy between FTZF1 and WT1,regulated by WT1 for gonadal differentiation,transcriptional suppressor of NR5A1

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA7990953
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0003714transcription corepressor activity IMP19651776
    GO:0003723RNA binding IDA10848616
         
    NR0B1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NR0B1:
     Increased cell death HMECs cel 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nr0b1):
     endocrine/exocrine gland  homeostasis/metabolism  reproductive system  tumorigenesis 

    NR0B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nr0b1tm1.1Lja for NR0B1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NR0B1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NR0B1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NR0B1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR0B1

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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NR0B1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR0B1


    (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
    NR0B1_HUMAN, P51843: Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the
    cytoplasm and in the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10848616
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA16709599
    GO:0016020membrane IDA10848616
    GO:0042788polysomal ribosome IDA10848616

    NR0B1 for ontologies           About GeneDecksing


    (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 NR0B1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    Nuclear Receptors0.67
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3GPCR Pathway
    Estrogen Pathway0.55
    4Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NR0B1
        Estrogen Pathway

    2 BioSystems Pathways for NR0B1
        Nuclear Receptors
    Regulation of Androgen receptor activity


    1 Reactome Pathway for NR0B1
        Nuclear Receptor transcription pathway



    NR0B1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR0B1: 
              Estrogen Receptor Signaling in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NR0B1

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

    Selected Interacting proteins for NR0B1 (P518431, 2, 3 ENSP000003682534) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RORAP353981, 2, 3, ENSP000002615234EBI-946109,EBI-748689 MINT-2855726 MINT-2856905 I2D: score=3 STRING: ENSP00000261523
    ENSG00000235068Q018603, ENSP000004050414I2D: score=3 STRING: ENSP00000405041
    ENSG00000206454Q018603I2D: score=3 
    ENSG00000229094Q018603I2D: score=3 
    ENSG00000230336Q018603I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0006694steroid biosynthetic process IDA9384387

    NR0B1 for ontologies           About GeneDecksing



    (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 NR0B1

    2 DrugBank Compounds for NR0B1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DexamethasoneDesametasone (see all 9)50-02-2targetstimulator17526944 16857744
    TretinoinAll Trans Retinoic Acid (see all 5)302-79-4target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for NR0B1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dmrt 68.9 1 16868052 (1)
    acth 59.8 13 15879363 (1), 18228160 (1), 10931108 (1), 16392182 (1) (see all 10)
    steroid 56 21 18827407 (2), 8961266 (2), 12536357 (1), 15523052 (1) (see all 16)
    gnrh 48.4 4 12536356 (1), 9027352 (1), 14689055 (1)
    testosterone 48.1 11 11875111 (3), 15084237 (2), 16475121 (1), 15464421 (1) (see all 8)
    glycerol 46.3 17 8921887 (2), 15300857 (2), 18762570 (1), 10757639 (1) (see all 11)
    hpaii 32.6 1 15591025 (1)
    estrogen 23.8 15 15084237 (2), 11053406 (2), 16627587 (2), 17342735 (1) (see all 7)
    progesterone 22.7 4 10098511 (1), 10403575 (1), 16901926 (1), 15464421 (1)
    zinc 6.3 7 9032275 (1), 8701082 (1), 8921887 (1), 18038713 (1) (see all 6)



    NR0B1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NR0B1 gene: 
    NM_000475.4  

    Unigene Cluster for NR0B1:

    Nuclear receptor subfamily 0, group B, member 1
    Hs.268490  [show with all ESTs]
    Unigene Representative Sequence: S74720
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378970(uc004dcf.4) ENST00000378963 ENST00000453287
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NR0B1
      QuantiFast Probe-based Assays in human, mouse, rat NR0B1

    Additional mRNA sequence: 

    BC011564.1 HQ692832.1 S74720.1 

    4 DOTS entries:

    DT.92422160  DT.75101942  DT.40193850  DT.97824504 

    Selected AceView cDNA sequences (see all 49):

    AI681514 BE467486 BX281022 BE502995 BQ220108 NM_000475 BM128433 AI693308 
    BC011564 BQ925068 AV701558 BU540575 AI701801 BQ100800 BE045725 CK819373 
    BE673986 BF108375 BF477974 AA995366 AI027742 AA758389 BI520508 AW612655 

    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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    NR0B1 expression in normal human tissues (normalized intensities)      NR0B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGAAGAAT
    NR0B1 Expression
    About this image


    NR0B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Cerebellum
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Gonad Somatic Cells Primitive Gonad
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
    NR0B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NR0B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.268490
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR0B1: 
              Estrogen Receptor Signaling in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NR0B1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR0B1

    (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 chordates.

    Orthologs for NR0B1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr0b11 , 5 nuclear receptor subfamily 0, group B, member 11, 5 74.75(n)1
    65.74(a)1
      X (39.67 cM)5
    116141  NM_007430.41  NP_031456.11 
     861917645 
    chicken
    (Gallus gallus)
    Aves NR0B11 nuclear receptor subfamily 0, group B, member 1 73.41(n)
    64.2(a)
      395285  NM_204593.1  NP_989924.1 
    lizard
    (Anolis carolinensis)
    Reptilia NR0B16
    nuclear receptor subfamily 0, group B, member 1
    62(a)
    1 ↔ 1
    3(129401126-129408641)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004870431 nuclear receptor subfamily 0 group B member 1-like 61.58(n)
    57.63(a)
      100487043  XM_002933615.2  XP_002933661.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nr0b11 nuclear receptor subfamily 0, group B, member 1 61.38(n)
    52.78(a)
      100001692  NM_001082947.1  NP_001076416.1 


    ENSEMBL Gene Tree for NR0B1 (if available)
    TreeFam Gene Tree for NR0B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NR0B1 gene
    NR0B22  
    1 SIMAP similar gene for NR0B1 using alignment to 3 protein entries:     NR0B1_HUMAN (see all proteins):
    NR0B2

    NR0B1 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), 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 NR0B1 (see all 184)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289354811,2,,4
    CX-linked adrenal hypoplasia congenital (XL-AHC)4 pathogenic130237354(-) CATCAA/TTGCCA 2 N I mis1 ese30--------
    rs289354821,2,,4
    CX-linked adrenal hypoplasia congenital (XL-AHC)4 pathogenic130241171(-) TGCTGC/GGCGTC 2 C W mis1 ese30--------
    VAR_0047454
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0047452 R G mis40--------
    VAR_0183004
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0183002 Y D mis40--------
    VAR_0183064
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0183062 L R mis40--------
    VAR_0047414
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0047412 A V mis40--------
    VAR_0047444
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0047442 V G mis40--------
    VAR_0183034
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0183032 L P mis40--------
    VAR_0047384
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0047382 R P mis40--------
    VAR_0183024
    X-linked adrenal hypoplasia congenital (XL-AHC)4--see VAR_0183022 I S mis40--------

    HapMap Linkage Disequilibrium report for NR0B1 (30322323 - 30327715 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NR0B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv505n21CNV Gain19592680

    Human Gene Mutation Database (HGMD): NR0B1
    Locus Specific Mutation Databases (LSDB): NR0B1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NR0B1
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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.)
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    OMIM gene information: 300473   
    OMIM disorders: 300200  300018  
    UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843
  • X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]: Developmental disorder of the adrenal gland
    that results in profound hormonal deficiencies and is lethal if untreated. It is characterized by the absence of
    the permanent zone of the adrenal cortex and by a structural disorganization of the glands. Hypogonadotropic
    hypogonadism (HHG) is frequently associated with this disorder. HHG is a condition resulting from or
    characterized by abnormally decreased gonadal function, with retardation of growth and sexual development.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • 46,XY sex reversal 2 (SRXY2) [MIM:300018]: A condition characterized by male-to-female sex reversal in
    the presence of a normal 46,XY karyotype. Note=The disease is caused by mutations affecting the gene represented
    in this entry. XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY
    gene develop as females. The single X chromosome in these individuals does not undergo X-chromosome inactivation;
    therefore, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the
    duplicated region. Individuals with deletion of this region develop as males. Genes within the dosage-sensitive
    sex reversal region are, therefore, not essential for testis development, but, when present in a double dose,
    interfere with testis formation

  • Selected diseases for NR0B1 (see all 65):    About MalaCards
    pyosalpinx    dosage-sensitive sex reversal    46xy sex reversal 2, dosage-sensitive    adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
    panophthalmitis    x-linked adrenal hypoplasia congenita    nr0b1-related 46,xy dsd and 46,xy cgd    acute hemorrhagic conjunctivitis
    complex glycerol kinase deficiency    isolated x-linked adrenal hypoplasia congenita    familial glucocorticoid deficiency    trophoblastic neoplasm
    hypogonadotropism    metaphyseal dysplasia    hypogonadism    addison's disease
    developmental disabilities    46 xy gonadal dysgenesis    gestational trophoblastic neoplasm    hemiplegia

    8 diseases from the University of Copenhagen DISEASES database for NR0B1:
    Klinefelter's syndrome     Hemiplegia     Hypogonadism     Gonadal dysgenesis
    Gestational trophoblastic neoplasm     Botulism     Duchenne muscular dystrophy     Metaphyseal dysplasia

    NR0B1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NR0B1 gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal hypoplasia, congenital 97.4 50 8636263 (3), 15800903 (2), 9709929 (2), 19773398 (2) (see all 32)
    addisons disease 97 186 18339285 (4), 16355812 (3), 18038713 (3), 10341858 (3) (see all 99)
    glycerol kinase deficiency 87.5 6 15300857 (2), 9195207 (1), 19859888 (1), 15860922 (1)
    kallmann syndrome 74.4 6 10714361 (1), 12536356 (1), 10727999 (1), 10527669 (1) (see all 5)
    adrenal disease 72.2 1 8756567 (1)
    hypogonadism 70 14 10341858 (3), 17803711 (2), 10361383 (1), 12943739 (1) (see all 11)
    metaphyseal dysplasia 68.4 2 17986825 (1)
    puberty delayed 61.7 1 10599709 (1)
    carcinoma adrenocortical 58.6 9 18824868 (3), 9232190 (2), 15879363 (1), 18819054 (1) (see all 6)
    hypoplasia 57.6 25 15044589 (2), 12610109 (2), 18417736 (2), 16459121 (1) (see all 14)

    GeneTests: NR0B1
    GeneReviews: NR0B1
    Genetic Association Database (GAD): NR0B1
    Human Genome Epidemiology (HuGE) Navigator: NR0B1 (1 document)

    Export disorders for NR0B1 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 NR0B1 gene, integrated from 10 sources (see all 313):
    (articles sorted by number of sources associating them with NR0B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. (PubMed id 16709599)1, 2, 9 Iyer A.K.... McCabe E.R.B. (Mol. Endocrinol. 2006)
    2. NR0B1A: an alternatively spliced form of NR0B1. (PubMed id 15589120)1, 2, 9 Ho J.... McCabe E.R.B. (Mol. Genet. Metab. 2004)
    3. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. (PubMed id 11443184)1, 2, 9 Achermann J.C.... Jameson J.L. (J. Clin. Endocrinol. Metab. 2001)
    4. Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita. (PubMed id 10713076)1, 2, 9 Altincicek B....Baniahmad A. (J. Biol. Chem. 2000)
    5. DAX1 mutations map to putative structural domains in a deduced three- dimensional model. (PubMed id 9529340)1, 2, 9 Zhang Y.-H.... McCabe E.R.B. (Am. J. Hum. Genet. 1998)
    6. Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. (PubMed id 12629128)1, 2, 9 Brown P.... Anderson R.A. (J. Clin. Endocrinol. Metab. 2003)
    7. Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. (PubMed id 11748852)1, 2, 9 Zhang Y.H.... Phelan J.K. (Hum. Mutat. 2001)
    8. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. (PubMed id 10675358)1, 2, 9 Tabarin A.... Bouchard P. (J. Clin. Invest. 2000)
    9. Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. (PubMed id 9360549)1, 2, 9 Nakae J.... Fujieda K. (J. Clin. Endocrinol. Metab. 1997)
    10. Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. (PubMed id 10848616)1, 2, 9 Lalli E.... Sassone-Corsi P. (Mol. Cell. Biol. 2000)

    (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: 190 HGNC: 7960 AceView: NR0B1 Ensembl:ENSG00000169297 euGenes: HUgn190
    ECgene: NR0B1 H-InvDB: NR0B1

    (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 NR0B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NR0B1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NR0B1 gene:
    Search GeneIP for patents involving NR0B1

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



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