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NR6A1 Gene

protein-coding   GIFtS: 61
GCID: GC09M127279

Nuclear Receptor Subfamily 6, Group A, Member 1


(Previous symbol: GCNF)
  Search for NR6A1
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 6, Group A, Member 11 2     GCNF12
GCNF1 2 3 5     NR612
Retinoid Receptor-Related Testis-Specific Receptor2 3     Germ Cell Nuclear Factor Variant 12
RTR2 3     Nuclear Receptor Subfamily 6 Group A Member 12
hGCNF2 3     Retinoic Acid Receptor-Related Testis-Associated Receptor2
hRTR2 3     Germ Cell Nuclear Factor3
CT1502     

External Ids:    HGNC: 79851   Entrez Gene: 26492   Ensembl: ENSG000001482007   OMIM: 6027785   UniProtKB: Q154063   

Export aliases for NR6A1 gene to outside databases

Previous GC identifers: GC09M118397 GC09M118928 GC09M120736 GC09M122658 GC09M124361 GC09M126319 GC09M096897


(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 NR6A1 Gene:
This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its
expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can
homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple
transcript variants.(provided by RefSeq, Jun 2013)

GeneCards Summary for NR6A1 Gene:
NR6A1 (nuclear receptor subfamily 6, group A, member 1) is a protein-coding gene. GO annotations related to this gene include steroid hormone receptor activity and protein homodimerization activity. An important paralog of this gene is NR5A2.

UniProtKB/Swiss-Prot: NR6A1_HUMAN, Q15406
Function: Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be
involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity)

Gene Wiki entry for NR6A1 (Germ cell nuclear factor) 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 at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NR6A1 gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR6A1 promoter sequence
   Search Chromatin IP Primers for NR6A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NR6A1


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

Entrez Gene cytogenetic band: 9q33.3   Ensembl cytogenetic band:  9q33.3   HGNC cytogenetic band: 9q33.3

NR6A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR6A1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M127279:  view genomic region     (about GC identifiers)

Start:
127,279,554 bp from pter      End:
127,533,589 bp from pter
Size:
254,036 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, 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: NR6A1_HUMAN, Q15406 (See protein sequence)
Recommended Name: Nuclear receptor subfamily 6 group A member 1  
Size: 480 amino acids; 54383 Da
Subunit: Homodimer. Interacts with UIMC1 (By similarity)
Secondary accessions: O00551 O00603 Q5T6F4 Q8NHQ0 Q92898 Q99802
Alternative splicing: 5 isoforms:  Q15406-1   Q15406-2   Q15406-3   Q15406-4   Q15406-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NR6A1: NX_Q15406

Explore proteomics data for NR6A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NR6A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001265475.1  NP_001480.3  NP_201591.2  

    ENSEMBL proteins: 
     ENSP00000420267   ENSP00000362686   ENSP00000413701   ENSP00000341135   ENSP00000420587  

    NR6A1 Human Recombinant Protein Products:

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    Novus Biologicals NR6A1 Proteins
    Novus Biologicals NR6A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NR6A1 

    NR6A1 Antibody Products:

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    Search eBioscience for ELISAs for NR6A1 


    (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: Germ cell nuclear factor
    6A. Germ cell nuclear factor receptors

    5 InterPro protein domains:
     IPR013088 Znf_NHR/GATA
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt
     IPR001723 Str_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry Q15406

    ProtoNet protein and cluster: Q15406

    2 Blocks protein domains:
    IPB000324 Vitamin D receptor signature
    IPB001723 Steroid hormone receptor signature


    UniProtKB/Swiss-Prot: NR6A1_HUMAN, Q15406
    Similarity: Belongs to the nuclear hormone receptor family. NR6 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    Find genes that share domains with NR6A1           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: NR6A1_HUMAN, Q15406
    Function: Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be
    involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity)

         Genatlas biochemistry entry for NR6A1:
    nuclear receptor subfamily 6,group A,member 1,steroid/thyroid receptor superfamily,potentially involved in
    spermatogenic maturation

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS9134503
    GO:0005515protein binding ----
         
    Find genes that share ontologies with NR6A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NR6A1:
     Upregulation of Wnt/beta-caten 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Nr6a1):
     cardiovascular system  digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system  reproductive system 
     skeleton 

    Find genes that share phenotypes with NR6A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NR6A1: Nr6a1tm2Coo Nr6a1tm1Coo

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NR6A1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR6A1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for NR6A1 (see all 417):
    AAMP,  ACP5,  ADCY9,  AGPAT6,  AKAP10,  AKAP8L,  ALAS2,  ALDH7A1,  ALG13,  ALKBH4

    miRNA
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    hsa-mir-421 (MIRT016117), hsa-mir-181a-5p (MIRT025188), hsa-mir-9-5p (MIRT021417)

    Block miRNA regulation of human, mouse, rat NR6A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NR6A1 (see all 16):
    hsa-miR-3607-3p hsa-miR-495 hsa-miR-181c hsa-miR-3664-5p hsa-miR-4272 hsa-miR-23a hsa-miR-3662 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidNR6A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NR6A1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR6A1


    (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
    NR6A1_HUMAN, Q15406: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex ISS--

    Find genes that share ontologies with NR6A1           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 NR6A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    2Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    3Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    4Oct4 in Mammalian ESC Pluripotency
    Oct4 in Mammalian ESC Pluripotency
    5Meiosis (EMD)
    Meiosis


    Find genes that share SuperPaths with NR6A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NR6A1
        Oct4 in Mammalian ESC Pluripotency

    1 Cell Signaling Technology (CST) Pathway for NR6A1
        Wnt / Hedgehog / Notch


        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR6A1: 
              Embryonic Stem Cells in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NR6A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for NR6A1 (Q154062, 3 ENSP000004202674) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNB5O147752, 3, ENSP000002618374MINT-63075 I2D: score=4 STRING: ENSP00000261837
    DNMT3AQ9Y6K13, ENSP000002647094I2D: score=1 STRING: ENSP00000264709
    UIMC1Q96RL13, ENSP000003664344I2D: score=2 STRING: ENSP00000366434
    NCOR1O753763, ENSP000002687124I2D: score=1 STRING: ENSP00000268712
    DNMT3BQ9UBC33, ENSP000003285474I2D: score=1 STRING: ENSP00000328547
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007276gamete generation ISS--

    Find genes that share ontologies with NR6A1           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 NR6A1

    5 Novoseek inferred chemical compound relationships for NR6A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 63.4 24 20463469 (2), 19439415 (2), 19587013 (2), 12023888 (1) (see all 15)
    retinoid 52.5 11 9134503 (2), 10940306 (2), 16155958 (1)
    protamine 37.7 3 11578963 (2), 11606249 (1)
    estrogen 19 1 10940306 (1)
    cholesterol 0 1 12467566 (1)



    Find genes that share compounds with NR6A1           About GenesLikeMe



    (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 NR6A1 gene (4 alternative transcripts): 
    NM_001278546.1  NM_001489.4  NM_033334.3  NM_033335.2  

    Unigene Cluster for NR6A1:

    Nuclear receptor subfamily 6, group A, member 1
    Hs.586460  [show with all ESTs]
    Unigene Representative Sequence: BC030600
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487099 ENST00000373584(uc004boq.1 uc004bor.1 uc010mwq.1)
    ENST00000416460 ENST00000344523 ENST00000475178
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    hsa-miR-3607-3p hsa-miR-495 hsa-miR-181c hsa-miR-3664-5p hsa-miR-4272 hsa-miR-23a hsa-miR-3662 hsa-miR-181b
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      QuantiFast Probe-based Assays in human, mouse, rat NR6A1

    Additional mRNA sequence: 

    AF004291.1 BC030600.1 BC042395.1 BC042406.1 HQ692858.1 HQ709185.1 S83309.1 U80802.1 

    3 DOTS entries:

    DT.100698165  DT.92070028  DT.87046871 

    Selected AceView cDNA sequences (see all 106):

    BX116009 BQ278164 AA991937 CK822092 AI693165 BM312527 U80802 BQ013360 
    AA563667 BF059563 AA609460 BE899143 BF509290 AI797388 BF373095 BX509410 
    BM728274 BQ278173 BQ013408 AI191939 BI093487 BU849660 BI791578 BU622921 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NR6A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
    SP1:              -                                                               
    SP2:              -     -                                                         
    SP3:              -     -                                                         
    SP4:                                                                              


    ECgene alternative splicing isoforms for NR6A1

    (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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    NR6A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTGTGTG
    NR6A1 Expression
    About this image


    NR6A1 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
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     NULL (Uncategorized)
             Short-term differentiated embryoid bodies
     
     Gonad
             Secondary Oocyte Antral Follicle
     
     Somite (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    NR6A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NR6A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.586460

    UniProtKB/Swiss-Prot: NR6A1_HUMAN, Q15406
    Tissue specificity: Shows highest expression in the germ cells of the adult testis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR6A1: 
              Embryonic Stem Cells in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat NR6A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR6A1

    (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.

    Orthologs for NR6A1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr6a11 , 5 nuclear receptor subfamily 6, group A, member 11, 5 92.92(n)1
    98.33(a)1
      2 (24.42 cM)5
    145361  NM_010264.41  NP_034394.11 
     387233705 
    chicken
    (Gallus gallus)
    Aves NR6A11 nuclear receptor subfamily 6, group A, member 1 80.59(n)
    90.26(a)
      772325  XM_004946034.1  XP_004946091.1 
    lizard
    (Anolis carolinensis)
    Reptilia NR6A16
    nuclear receptor subfamily 6, group A, member 1
    73(a)
    1 ↔ 1
    GL343937.1(14589-86683)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.3772 Xenopus laevis nuclear orphan receptor xGCNF mRNA, more 74.81(n)    U58683.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nr6a12 nuclear receptor subfamily 6, group A, member 1 76.68(n)   30506  AJ007703.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ftz-f16
    ftz transcription factor 1
    10(a)
    1 → many
    3L(18743707-18794409)
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-256
    Protein NHR-25, isoform a (nhr-25) mRNA, complete ...
    16(a)
    1 → many
    X(13008493-13013961) WBGene00003623


    ENSEMBL Gene Tree for NR6A1 (if available)
    TreeFam Gene Tree for NR6A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NR6A1 gene
    NR5A22  NR5A12  
    Selected SIMAP similar genes for NR6A1 using alignment to 4 protein entries:     NR6A1_HUMAN (see all proteins) (see all similar genes):
    NR2C2    BCOR-RARA    RARB    RORA    NR3C2    HNF4alpha
    NR2F1    HNF4G    PPARG    ESRRB    ESRRG    NR4A2
    THRB    ESR1    VDR    NR1F1    RXRB    NR5A1

    Find genes that share paralogs with NR6A1           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 NR6A1 (see all 3601)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1485441731,2
    C--127284302(+) AGGACG/TTGTTG 2 -- ds50010--------
    rs1442868461,2
    --127284305(+) ACTTGA/TTGGGT 2 -- ds50010--------
    rs11049241,2
    C,F,H--127284349(+) CCCTAC/TTCTCT 2 -- ds5001 ese310Minor allele frequency- T:0.00MN NS EA NA 1166
    rs1413407391,2
    C--127284414(+) GTTGCC/TGTCTC 2 -- ds50010--------
    rs109863571,2
    C,H--127284434(+) GCTTAG/CTGAAT 2 -- ds5001 ese34Minor allele frequency- C:0.00NS EA 420
    rs714955231,2
    C,F--127284465(+) CCTTAC/TAGTGT 2 -- ds50013Minor allele frequency- T:0.03NA 124
    rs788760291,2
    F--127284510(+) GCAATT/CTGCTC 2 -- ds50011Minor allele frequency- C:0.08WA 118
    rs1167198051,2
    F--127284530(+) CAAATG/CTATGA 2 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1827769781,2
    --127284533(+) ATGTAC/TGAGTC 2 -- ds50010--------
    rs1877661391,2
    --127284660(+) AAATAC/TAAAAG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for NR6A1 (127279554 - 127529554 bp, first 250kb of NR6A1)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for NR6A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669194CNV Deletion23128226
    esv2457492CNV Deletion19546169
    esv2482264CNV Deletion19546169
    nsv6713CNV Insertion18451855
    nsv466559CNV Loss19166990
    nsv466558CNV Loss19166990
    nsv6712CNV Loss18451855
    nsv831721CNV Gain17160897
    nsv893837CNV Gain21882294
    nsv526209CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NR6A1
    DNA2.0 Custom Variant and Variant Library Synthesis for NR6A1

    (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.)
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    OMIM gene information: 602778    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for NR6A1:
    Embryonal carcinoma

    Find genes that share disorders with NR6A1           About GenesLikeMe

    2 Novoseek inferred disease relationships for NR6A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma embryonal 49.9 4 9134503 (1), 10524192 (1), 8982251 (1)
    teratocarcinoma 48.5 1 16954206 (1)

    Genetic Association Database (GAD): NR6A1
    Human Genome Epidemiology (HuGE) Navigator: NR6A1 (2 documents)

    Export disorders for NR6A1 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 NR6A1 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with NR6A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human orphan receptor germ cell nuclear factor/retinoid receptor-related testis-associated receptor and its differential regulation during embryonal carcinoma cell differentiation. (PubMed id 9134503)1, 2, 3, 9 Lei W.... Jetten A.M. (J. Mol. Endocrinol. 1997)
    2. Characterization of the human germ cell nuclear factor gene. (PubMed id 8982251)1, 2, 3, 9 Suesens U. and Borgmeyer U. (Biochim. Biophys. Acta 1996)
    3. RAP80: a novel nuclear protein that interacts with the retinoid- related testis-associated receptor. (PubMed id 12080054)1, 2, 9 Yan Z.... Jetten A.M. (J. Biol. Chem. 2002)
    4. Cloning, expression analysis and chromosomal localization of the human nuclear receptor gene GCNF. (PubMed id 9537518)1, 2, 9 Agoulnik I.Y.... Cooney A.J. (FEBS Lett. 1998)
    5. cDNA cloning of two closely related forms of human germ cell nuclear factor (GCNF). (PubMed id 9177477)1, 2, 9 Kapelle M.... Schleuning W.-D. (Biochim. Biophys. Acta 1997)
    6. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1, 4 Letra A....Vieira A.R. (Am. J. Med. Genet. A 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. 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)
    9. Characterization of the repressor function of the nuclear orphan receptor retinoid receptor-related testis-associated receptor/germ cell nuclear factor. (PubMed id 10940306)1, 9 Yan Z. and Jetten A.M. (J. Biol. Chem. 2000)
    10. Germ cell nuclear factor: an orphan receptor with unexpected properties. (PubMed id 9846950)1, 9 Greschik H. and SchA1le R. (J. Mol. Med. 1998)

    (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: 2649 HGNC: 7985 AceView: NR6A1 Ensembl:ENSG00000148200 euGenes: HUgn2649
    ECgene: NR6A1 H-InvDB: NR6A1

    (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 NR6A1 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 NR6A1 gene:
    Search GeneIP for patents involving NR6A1

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



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