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

NR0B1 Gene

protein-coding   GIFtS: 66
GCID: GC0XM030322

nuclear receptor subfamily 0, group B, member 1

(Previous name: dosage-sensitive sex reversal )
(Previous symbols: AHC, DSS)
 Explore 68 diseases affiliated with
NR0B1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NR0B1    

Aliases
for NR0B1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nuclear Receptor Subfamily 0, Group B, Member 11 2     Dosage-Sensitive Sex Reversal1
AHC1 2 3 5     DAX-12
DAX11 2 3 5     GTD2
AHCH1 2     HHG2
DSS1 2     SRXY22
Nuclear Receptor DAX-12 3     Nuclear Hormone Receptor2
DSS-AHC Critical Region On The X Chromosome Protein 12 3     Nuclear Receptor DAX12
AHX2 5     Nuclear Receptor Subfamily 0 Group B Member 12
NROB12 5     

External Ids:    HGNC: 79601   Entrez Gene: 1902   Ensembl: ENSG000001692977   OMIM: 3004735   UniProtKB: P518433   
ORGUL members:         
NONCODE:n337651    

Export aliases for NR0B1 gene to outside databases

Previous GC identifers: GC0XM028821 GC0XM029006 GC0XM029524 GC0XM029683 GC0XM030082 GC0XM030232 GC0XM028059


Summaries
for NR0B1 gene

(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 NR0B1:
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)

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)


Genomic Views
for NR0B1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences 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 plasmid: NR0B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NR0B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NR0B1 gene

(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: 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
Subcellular location: Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the
cytoplasm and in the nucleus
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51843

    • NR0B1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000466.2  
    ENSEMBL proteins: 
     ENSP00000368253   ENSP00000368246   ENSP00000396403  
    Reactome Protein details: P51843
    Human Recombinant Protein Products: 
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    Novus Biologicals NR0B1 Proteins
    Novus Biologicals NR0B1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NR0B1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005626insoluble fraction ----
    GO:0005634nucleus IDA19651776
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA16709599


    NR0B1 for ontologies           About GeneDecksing



    NR0B1 Antibody Products: 
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    ThermoFisher Antibody for NR0B1

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    Uscn ELISAs and CLIAs for NR0B1

    Protein Domains /
    Families
    for NR0B1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NR0B1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for NR0B1 gene

    (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: 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

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR0B1 (see all 7)
    OriGene shRNA RFP: NR0B1
    OriGene siRNA: NR0B1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NR0B1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NR0B1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NR0B1 (see all 3)
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    Cell Line
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    Search LifeMap BioReagents cell lines for NR0B1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR0B1

    Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA7990953
    GO:0003690double-stranded DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0003714transcription corepressor activity IMP19651776


    NR0B1 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for NR0B1 gene

    (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
    1Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    2Nuclear Receptor transcription pathway
    		Nuclear Receptor transcription pathway1.00
    		Nuclear Receptors0.68
    3Regulation of Androgen receptor activity
    		Regulation of Androgen receptor activity1.00
    4GPCR Pathway
    		Estrogen Pathway0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

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

    3        Reactome Pathways for NR0B1
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression



    NR0B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR0B1

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

    5/39 Interacting proteins for NR0B1 (P518431, 2, 3 ENSP000003682534) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RORAP353981, 2, 3, ENSP000002615234EBI-946109,EBI-748689 MINT-2855726 MINT-2856905 I2D: score=3 STRING: ENSP00000261523
    NANOGQ9H9S03, ENSP000002293074I2D: score=4 STRING: ENSP00000229307
    SNW1Q135733, ENSP000002615314I2D: score=4 STRING: ENSP00000261531
    NR5A1Q132853, ENSP000003626904I2D: score=3 STRING: ENSP00000362690
    RIF1Q5UIP03, ENSP000002433264I2D: score=3 STRING: ENSP00000243326
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0006694steroid biosynthetic process IDA9384387
    GO:0006950response to stress IEA--
    GO:0007283spermatogenesis IEA--


    NR0B1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NR0B1 gene

    (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

    NR0B1 for compounds           About GeneDecksing

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

    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

    10/14 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about NR0B1 

    Transcripts
    for NR0B1 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NR0B1

    Additional cDNA sequence: 

    BC011564.1 HQ692832.1 S74720.1 

    4 DOTS entries:

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

    24/49 AceView cDNA sequences (see all 49):

    BX281022 AI681514 NM_000475 BC011564 BQ220108 AI693308 BM128433 BQ925068 
    BE467486 AV701558 BE502995 CK819373 BF108375 BF115764 BQ100800 BI772108 
    BG287729 AA758389 AA995366 AW612655 BM128681 BF477974 BE465355 BU540575 

    GeneLoc Exon Structure


    Expression
    for NR0B1 gene

    (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

    NR0B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGAAGAAT

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

    NR0B1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemEarly GonadGonad Somatic CellsOvary, Testis
    TestisSeminiferous TubulesSertoli cellsTestis
    TestisTestis CordPre-Sertoli CellsTestis
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Intermediate mesoderm derivatives (Generation of interm...)
    Mesendoderm-like cells (Generation of mesend...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    See NR0B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NR0B1

    SOURCE GeneReport for Unigene cluster: Hs.268490
        SABiosciences Expression via Pathway-Focused PCR Arrays including NR0B1: 
              Estrogen Receptor Signaling in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
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    QIAGEN 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
    for NR0B1 gene

    (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 common ancestor of chordates.

    Orthologs for NR0B1 gene from 4/11 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
    --
    		 --
    		 62(a)
    37(a)
    		 1 ↔ 1
    possible ortholog
    		 3(129401126-129406385)
    1(199212287-199216609)
    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
    for NR0B1 gene

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



    Genomic Variants
    for NR0B1 gene

    (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

    10/117 NCBI SNPs in NR0B1 are shown (see all 117)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289354811,2
    		Cpathogenic30322790(-) CATCAA/TTGCCA 2 N I mis1 ese32Minor allele frequency- T:0.00NA 4
    rs1048948971,2
    		Cpathogenic30322793(-) ATTCAG/TCAATG 2 S I mis10--------
    rs1048949061,2
    		Cpathogenic30322912(-) AAGTAA/CATTCA 2 * Y stg10--------
    rs1048948941,2
    		Cpathogenic30322926(-) GCCTGC/TAGTGC 2 Q * stg10--------
    rs1048948961,2
    		Cpathogenic30326335(-) CTCAAG/TGGGAC 2 K N mis10--------
    rs1048948991,2
    		Cpathogenic30326339(-) CTACCA/TCAAGG 2 H L mis10--------
    rs1048949001,2
    		Cpathogenic30326343(-) ACGCCG/TACCTC 2 D Y mis10--------
    rs1048948861,2
    		Cpathogenic30326374(-) TGCTGA/GAGTCT 2 * W stg10--------
    rs1048949071,2
    		Cpathogenic30326591(-) CATGCC/TTGAGC 2 P L mis10--------
    rs289354821,2
    		Cpathogenic30326608(-) TGCTGG/CGCGTC 2 /C /W mis1 ese32Minor allele frequency- C:0.00NA 4

    HapMap Linkage Disequilibrium report for NR0B1 (30322323 - 30327715 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NR0B1
         1 CNV: 3265
    Human Gene Mutation Database (HGMD): NR0B1

    Locus Specific Mutation Databases (LSDB): NR0B1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for NR0B1 gene

    (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
    NR0B1 for disorders           About GeneDecksing

    OMIM gene information: 300473   
    OMIM disorders: 300200  300018  
    UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843
  • Defects in NR0B1 are the cause of X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200]; also known as
    • X-linked Addison disease (AHX). XL-AHC is a 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
  • Defects in NR0B1 are the cause of 46,XY sex reversal type 2 (SRXY2) [MIM:300018]. It is a condition
    • characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Note=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

    20/68 diseases for NR0B1 (see all 68):    About MalaCards
    dosage-sensitive sex reversal    adrenal hypoplasia    sex reversal    46, xy disorders of sex development
    glycerol kinase deficiency    hypogonadotropism    adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism    x-linked adrenal hypoplasia congenita
    hypogonadism    46 xy gonadal dysgenesis    gonadal dysgenesis    disorders of sex development
    complex glycerol kinase deficiency    xy sex reversal    alternating hemiplegia of childhood    lipoid adrenal hyperplasia
    gestational trophoblastic neoplasm    trophoblastic neoplasm    metaphyseal dysplasia    adrenal hyperplasia

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

    10/40 Novoseek 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
    46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
    X-Linked Adrenal Hypoplasia Congenita

    Human Genome Epidemiology (HuGE) Navigator: NR0B1 (1 document)

    Export disorders for NR0B1 gene to outside databases

    Publications
    for NR0B1 gene

    (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 NR0B1 gene, integrated from 9 sources (see all 303):
    (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. (2006)
    2. NR0B1A: an alternatively spliced form of NR0B1. (PubMed id 15589120)1, 2, 9 Ho J.... McCabe E.R.B. (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. (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. (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. (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. (2003)
    7. Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. (PubMed id 11748852)1, 2, 9 Zhang Y.H.... Phelan J.K. (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. (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. (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. (2000)

    External Searches for NR0B1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NR0B1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 190 HGNC: 7960 AceView: NR0B1 Ensembl:ENSG00000169297 euGenes: HUgn190
    ECgene: NR0B1 H-InvDB: NR0B1

    Other Databases showing NR0B1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NR0B1 gene

    (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 NR0B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NR0B1

    Intellectual Property
    for NR0B1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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