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NR0B1 Gene

protein-coding   GIFtS: 59

GC0XM030232
nuclear receptor subfamily 0, group B, member 1
(Previous name: dosage-sensitive sex reversal )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: AHC, DSS)
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Aliases &
Descriptions
for NR0B1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
nuclear receptor subfamily 0, group B, member 11 2     DSS2
DAX11 2 3     nuclear hormone receptor2
AHCH1 2     GTD2
Nuclear receptor DAX-12 3     DAX-12
AHC2 3     NROB12
DSS-AHC critical region on the X chromosome protein 12 3     AHX2
dosage-sensitive sex reversal1     HHG2
nuclear receptor subfamily 0 group B member 12     

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

Search outside databases for aliases for NR0B1 gene

Previous GC identifers: GC0XM028821 GC0XM029006 GC0XM029524 GC0XM029683 GC0XM030082

Summaries
for NR0B1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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  User Feedback		 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)

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 and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the NR0B1 gene upstream (promoter) region "":
AP-1   Sox9   Max1   c-Jun   C/EBPalpha   c-Fos   c-Myc   Max   PPAR-gamma2   PPAR-gamma1   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for NR0B1:  ""
MePH27444-3A   

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

Entrez Gene cytogenetic band: Xp21.3-p21.2   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)
""

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM030232:  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
RefSeq DNA sequence:
NC_000023.10  NT_167197.1  

Proteins
for NR0B1 gene

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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  User Feedback		 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/SF-1, 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   

REFSEQ proteins: NP_000466.2  

ENSEMBL proteins: 
ENSP00000396403 ENSP00000368246 ENSP00000368253 


Human Recombinant Proteins 
""Browse Purified and Recombinant Proteins at Millipore
""Browse Human Recombinant Proteins at Sigma-Aldrich
"" Browse R&D Systems for human recombinant proteins
""Enzo Life Sciences proteins for NR0B1
""HuPro® and/or Recombinant Proteins from Abnova for NR0B1 ""
""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
""Novus Biologicals Protein for NR0B1  ""
Novus Biologicals Lysates for NR0B1
""Browse Sino Biological Recombinant Proteins  ""

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005624 membrane fraction IDA10848616
GO:0005634 nucleus IDA7990953 10848616 16709599 19651776
GO:0005737 cytoplasm IDA16709599
GO:0042788 polysomal ribosome IDA10848616
About this table

"" NR0B1 for ontologies           About GeneDecksing



Antibodies for NR0B1: 
""Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
""Sigma-Aldrich Antibodies for NR0B1
""R&D Systems Antibodies for NR0B1 (DAX1/NR0B1)
""Monoclonal and Polyclonal Antibodies from Abnova (NR0B1)
"" Origene Antibodies (see all 3): NR0B1 ""
""Novus Biologicals Antibodies for NR0B1
""Browse antibodies at Epitomics

Assays for NR0B1: 
""Browse Kits and Assays available from Millipore
""Browse ELISAs at Sigma-Aldrich
"" Browse R&D Systems for biochemical assays
""Enzo Life Sciences assays for NR0B1

Protein Domains/
Families
for NR0B1 gene

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

3 InterPro domains/families:
 IPR008946 Nucl_hormone_rcpt_ligand-bd
 IPR000536 Nucl_hrmn_rcpt_lig-bd_core
 IPR001723 Str_hrmn_rcpt

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/SF-1 and NROB2 through its N-terminal LXXLL motifs
Similarity: Belongs to the nuclear hormone receptor family. NR0 subfamily

Gene Function
for NR0B1 gene

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib.
RNA:		""Browse for Gene Knock-down Tools from Millipore
""Abnova Chimera RNAi Products for Gene knock-down (NR0B1)
"" Origene 29mer shRNA kits in GFP-retroviral vector: NR0B1
Origene shRNA RFP: NR0B1
Origene basic RS shRNA: NR0B1

""Applied Biosystems Silencer® siRNAs for NR0B1
""Sigma-Aldrich siRNA Panels and siRNA for NR0B1
Sigma-Aldrich shRNA Panels and shRNA for NR0B1
Explore Sigma-Aldrich super-pooled esiRNAs
Clones:""Browse Clones for the Expression of Recombinant Proteins Available from Millipore
""Browse iPSC Reprogramming Factors at Sigma-Aldrich
"" Origene GFP tagged cDNA clones in CMV expression vector: NR0B1
Origene Myc/DDK tagged cDNA clones in CMV expression vector: NR0B1
Origene untagged cDNA clones in CMV expression vector: NR0B1
""Browse Sino Biological Human cDNA Clones  ""

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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003677 DNA binding IDA7990953
GO:0003690 double-stranded DNA binding IEA--
GO:0003700 transcription factor activity IEA--
GO:0003706 ligand-regulated transcription factor activity IDA7990953
GO:0003707 steroid hormone receptor activity IEA--
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Animal Models: 4 MGI mutant phenotypes (inferred from 2 alleles"") (MGI details for Nr0b1):

endocrine/exocrine glandhomeostasis/metabolismreproductive systemtumorigenesis

"" NR0B1 for phenotypes           About GeneDecksing

Pathways & Interactions
for NR0B1 gene

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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"" NR0B1 for pathways           About GeneDecksing

1 "" Sigma-Aldrich "Your Favorite Gene" Pathway for  NR0B1  (Your Favorite Gene powered by Ingenuity)
  ""  Estrogen Receptor Signaling

1 "" GeneAssist Pathway for NR0B1
  ""  Estrogen Pathway

"" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR0B1

5/30 Interacting proteins for NR0B1 (P518431, 2 ENSP000003682533) via UniProtKB, MINT, and/or STRING (see all 30 ) ""
InteractantInteraction Details
GeneCardExternal ID(s)
RORAP353981, 2EBI-946109,EBI-748689 MINT-2855726 MINT-2856905 EBI-946109,EBI-748689 MINT-2855726 MINT-2856905
NR5A1ENSP000003626903STRING: ENSP00000362690
NCOR1ENSP000002687123STRING: ENSP00000268712
NCOR2ENSP000003485513STRING: ENSP00000348551
NR0B2ENSP000002542273STRING: ENSP00000254227
About this table

5/21 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 21 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0006355 regulation of transcription, DNA-dependent ----
GO:0006694 steroid biosynthetic process IDA9384387
GO:0006950 response to stress IEA--
GO:0007283 spermatogenesis IEA--
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Drugs & Compounds
for NR0B1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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"" NR0B1 for compounds           About GeneDecksing

"" Enzo Life Sciences drugs & compounds for NR0B1
""Browse Small Molecules at Sigma-Aldrich

"" Browse Tocris compounds for NR0B1
10/47 ""Novoseek chemical compound relationships for NR0B1 gene (see all 47 )
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
acth 11.28 26 11796523 (5), 16857744 (4), 16439455 (4), 15666850 (2) (see all 15)
glycerol 4.08 13 8921887 (2), 15300857 (2), 9195207 (1), 7609262 (1) (see all 11)
dmrt 2.26 1 16868052 (1)
cpas 1.97 1 15985477 (1)
ptx1 1.85 1 9686002 (1)
(+-)-pgf2-alpha 1.42 2 15713365 (2)
fludrocortisone 1.03 1 17308433 (1)
carboxy 1.02 2 9566914 (1), 16709599 (1)
hpaii 0.99 1 15591025 (1)
p aminosalicylic acid 0.81 1 15985477 (1)
About this table


Transcripts
for NR0B1 gene

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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  User Feedback
Inhib.
RNA:		""Browse for Gene Knock-down Tools from Millipore
""Abnova Chimera RNAi Products for Gene knock-down (NR0B1)
""Applied Biosystems Silencer® siRNAs:  NM_000475  
"" Origene 29mer shRNA kits in GFP-retroviral vector: NR0B1
Origene shRNA RFP: NR0B1
Origene basic RS shRNA: NR0B1

""Sigma-Aldrich siRNA Panels and siRNA for NR0B1
Sigma-Aldrich shRNA Panels and shRNA for NR0B1
Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:""Search SABiosciences for microRNAs that regulate NR0B1: ""
Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
NM_000475  


Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: NR0B1
Origene Myc/DDK tagged cDNA clones in CMV expression vector: NR0B1
Origene untagged cDNA clones in CMV expression vector: NR0B1
Primers:"" Origene genome-wide validated SYBR primer pairs: NR0B1
""SABiosciences RT2 qPCR Primer Assay for NR0B1: PPH01252A ""

REFSEQ mRNAs for NR0B1 gene: 

NM_000475.4  

Additional cDNA sequence: 

BC011564.1 S74720.1 

4 DOTS entries:

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

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

BQ925068 BM128433 BE467486 AV701558 BE502995 BX281022 BQ220108 AI693308 
AI681514 NM_000475 BC011564 BG490066 BE045725 BI520508 BQ100767 BV199090 
BE673986 AI027742 BE218036 BF477974 AW612655 AA995366 BF115764 BQ100800 

"" highest scoring ESTs for NR0B1:

S74720 AA555080 AA884468 AA995366 AA995755 AI027742 AI207147 AI695903 AW236930 AW612655 

Unigene Cluster for NR0B1:

Nuclear receptor subfamily 0, group B, member 1
Hs.268490  [show with all ESTs]
Unigene Representative Sequence: S74720


GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:
ENST00000453287  ENST00000378963  ENST00000378970  

Expression
for NR0B1 gene

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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NR0B1 expression in normal and diseased human tissues

"" Applied Biosystems TaqMan ® Gene Expression Assays for NR0B1

1""  / 2""  / 3""

5 probe-sets matching NR0B1 gene

Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
39970_at2, 3 U95-A 1 0.50 1.00 1.00 1.00 S74720 1.00 1.00 1.00 1
206644_at2, 3 U133-A 1 0.91 1.00 -- -- NM_000475 0.60 1.00 0.82 1
206645_s_at2, 3 U133-A 1 0.64 1.00 -- -- NM_000475 0.60 1.00 0.82 1
206644_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
206645_s_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
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"" NR0B1 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AGGGAAGAAT

SOURCE GeneReport for Unigene cluster: Hs.268490

Expression variation in blood from EXPOLDB for NR0B1

Primers:"" Origene genome-wide validated SYBR primer pairs: NR0B1 ""
""SABiosciences RT2 qPCR Primer Assay for NR0B1: PPH01252A ""

Orthologs
for NR0B1 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for NR0B1 gene from 5/7 species (see all 7 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 NR0B11   -- nuclear receptor subfamily 0, group B, member 1 83.12(n)
74.68(a)		 491804  XM_548923.2  XP_548923.2 
chimpanzee
(Pan troglodytes)		 NR0B11   -- nuclear receptor subfamily 0, group B, member 1 99.72(n)
99.36(a)		 450140  XM_520991.2  XP_520991.2 
cow
(Bos taurus)		 NR0B11   -- nuclear receptor subfamily 0, group B, member 1 80.99(n)
73.19(a)		 281949  XM_597595.3  XP_597595.2 
rat
(Rattus norvegicus)		 Nr0b11   -- nuclear receptor subfamily 0, group B, member 1 74.33(n)
65.03(a)		 58850  NM_053317.1  NP_445769.1 
mouse
(Mus musculus)		 Nr0b11, 5 X (33.00 cM)5
 nuclear receptor subfamily 0, group B, member 11, 5 74.75(n)1
65.74(a)1		 116141  NM_007430.31  NP_031456.11 
 AK1334115  AK1412395  (see all 14)
About this table        Species with no ortholog for NR0B1

ENSEMBL Gene Tree for NR0B1

Paralogs
for NR0B1 gene

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
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Paralogs for NR0B1 gene
NR0B22  

"" NR0B1 for paralogs           About GeneDecksing


Genomic Variants
for NR0B1 gene

(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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9 NCBI SNPs in NR0B1 are shown
(Click "" for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)
ABGenomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
""
rs48291691,2
C,F,A28064823(+) TTAATG/TCCATC 1 -- ng51""13Minor allele frequency- T:0.13NS EA NA 1056""
""
rs23011311,2
C,F28059125(-) TCTTTT/AAAAAA 1 -- ng31""4Minor allele frequency- A:0.01NS EA 418""
""
rs38107181,2
H28064378(-) CGCTGC/TTGTTC 1 -- ng51 ese3""4Minor allele frequency- T:0.00NS EA 418""
""
rs22693451,2
C,A,H30326983(-) GCACGA/GCCAGG 2 R syn1 ref1 ese3""2Minor allele frequency- G:0.00NA 4""
--
rs61501,2
C,F30327367(-) CAGTGC/TTGGGG 2 C ref1 syn1 ese3""3Minor allele frequency- T:0.17MN NA 272""
""
rs37888901,2
C,F,A,H28060609(-) TTGCAA/CTCATC 1 -- int1 ese3""10Minor allele frequency- C:0.26NS EA NA 731""
""
rs37888911,2
C,F,A28060577(-) TGGTCC/AACTGC 1 -- int1 ese3""5Minor allele frequency- A:0.44NS EA NA 416""
""
rs61511,2
C28059607(-) TCTCCC/TTCCAG 1 -- int1 trp3""6Minor allele frequency- T:0.00MN NS EA 688""
--
rs59290861,2
--28060816(+) CAGTTC/TTGATT 1 -- int1""0--------
About this table
The following additional 14 SNP(s) have been found in Applied Biosystems data source:
(Click "" for Applied Biosystems TaqMan ® Genotyping Assay)


"" rs12687306"" rs4829168"" rs6653834"" rs1034948"" rs28935481"" rs4829424"" rs5973812
"" rs2079520"" rs2864927"" rs28935482"" rs5929084"" rs5929087"" rs5972102"" rs17282928

HapMap Linkage Disequilibrium images for NR0B1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
Database of Genomic Variants (DGV): 1 variation for NR0B1
     1 CNV: 3265

Disorders & Mutations
for NR0B1 gene

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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"" NR0B1 for disorders           About GeneDecksing

OMIM: 300473

UniProtKB/Swiss-Prot: NR0B1_HUMAN, P51843
  • Defects in NR0B1 are the cause of X-linked adrenal hypoplasia congenital (AHC) [MIM:300200]. 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
  • XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene show
    • dosage-sensitive sex reversal (DSS) [MIM:300018]. 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 DSS region
    are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis
    formation

    10/108 ""Novoseek disease relationships for NR0B1 gene (see all 108 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    dosage-sensitive sex reversal 100.00 34 16709599 (2), 15358680 (2), 15046740 (2), 8701082 (1) (see all 31)
    congenital adrenal hypoplasia 82.35 29 8636263 (2), 18941128 (2), 9709929 (1), 9195207 (1) (see all 27)
    adrenal insufficiencies 64.66 41 16684822 (4), 17054473 (2), 10599708 (2), 9658405 (1) (see all 36)
    congenital adrenal hypoplasia, x-linked 55.61 17 19773398 (3), 10323730 (2), 9709929 (1), 9384387 (1) (see all 14)
    hypogonadotrophic hypogonadism 23.62 14 10341858 (5), 9121493 (1), 7677767 (1), 17803711 (1) (see all 10)
    adrenocortical tumor 22.56 14 9661652 (5), 15879363 (2), 11592817 (2), 11196414 (2) (see all 7)
    hypoplasia 21.16 21 18417736 (2), 15044589 (2), 12610109 (2), 12554773 (2) (see all 17)
    glycerol kinase deficiency 19.34 9 15300857 (4), 16887896 (2), 9195207 (1), 19859888 (1) (see all 5)
    ewing sarcoma 14.16 15 19920188 (4), 16206264 (4), 17114343 (3), 18591936 (2) (see all 6)
    hypocortisolism 11.92 7 9709929 (1), 19822252 (1), 18604556 (1), 16355812 (1) (see all 7)
    About this table

    GeneTests: NR0B1
    X-Linked Adrenal Hypoplasia Congenita

    Locus Specific Mutation Databases: NR0B1
    Human Gene Mutation Database: NR0B1

    Medical News
    for NR0B1 gene

    (Possibly Related Articles in Doctor's Guide)
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    Publications
    for NR0B1 gene

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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      User Feedback    		10/272 PubMed articles for NR0B1 gene (see all 272 ):

    Search for NR0B1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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    Genome Databases showing NR0B1 gene

    (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

    Other Databases showing NR0B1 gene

    (According to HUGE)
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    Specialized Databases showing NR0B1 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    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 XenneX, Inc.)
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      User Feedback    		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


    Services
    for NR0B1 gene

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Novus Biologicals,
    Epitomics, Sigma-Aldrich, R&D Systems, SABiosciences, Millipore, Abnova,
    Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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    ""
    Products for NR0B1:
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