Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

NHLH2 Gene

protein-coding   GIFtS: 57
GCID: GC01M116378

Nescient Helix Loop Helix 2


(Previous symbol: HEN2)
  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)
About This Section

Aliases
Nescient Helix Loop Helix 21 2 3     bHLHa342 3
HEN21 2 3 5     NSCL22
Class A Basic Helix-Loop-Helix Protein 342 3     Helix-Loop-Helix Protein 22
HEN-22 3     BHLHA343
NSCL-22 3     KIAA04903

External Ids:    HGNC: 78181   Entrez Gene: 48082   Ensembl: ENSG000001775517   OMIM: 1623615   UniProtKB: Q025773   

Export aliases for NHLH2 gene to outside databases

Previous GC identifers: GC01M116792 GC01M115261 GC01M115527 GC01M115726 GC01M116091 GC01M116180 GC01M114236


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NHLH2 Gene: 
NHLH2 (nescient helix loop helix 2) is a protein-coding gene. Diseases associated with NHLH2 include hypogonadism, and neuroblastoma. GO annotations related to this gene include RNA polymerase II activating transcription factor binding and protein dimerization activity. An important paralog of this gene is NHLH1.

UniProtKB/Swiss-Prot: HEN2_HUMAN, Q02577
Function: May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly
within the developing nervous system




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NHLH2 gene promoter:
         STAT3   AP-4   AP-2alpha   AP-2alphaA   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNHLH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NHLH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NHLH2


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

Entrez Gene cytogenetic band: 1p12-p11   Ensembl cytogenetic band:  1p13.1   HGNC cytogenetic band: 1p12-p11

NHLH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NHLH2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M116378:  view genomic region     (about GC identifiers)

Start:
116,378,998 bp from pter      End:
116,386,538 bp from pter
Size:
7,541 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HEN2_HUMAN, Q02577 (See protein sequence)
Recommended Name: Helix-loop-helix protein 2  
Size: 135 amino acids; 15018 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q5T1P6

Explore the universe of human proteins at neXtProt for NHLH2: NX_Q02577

Explore proteomics data for NHLH2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02577

  • NHLH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NHLH2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001104531.1  NP_005590.1  

    ENSEMBL proteins: 
     ENSP00000322087   ENSP00000358519   ENSP00000405062  

    Human Recombinant Protein Products for NHLH2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for NHLH2
    OriGene Protein Over-expression Lysate for NHLH2
    OriGene MassSpec for NHLH2 
    OriGene Custom Protein Services for NHLH2
    GenScript Custom Purified and Recombinant Proteins Services for NHLH2
    Novus Biologicals NHLH2 Protein
    Novus Biologicals NHLH2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NHLH2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex TAS16314316

    NHLH2 for ontologies           About GeneDecksing



    NHLH2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NHLH2
    GenScript Custom Superior Antibodies Services for NHLH2
    Novus Biologicals NHLH2 Antibodies
    Abcam antibodies for NHLH2
    Cloud-Clone Corp. Antibodies for NHLH2 
    Search ThermoFisher Antibodies for NHLH2
    LSBio Antibodies in human, mouse, rat for NHLH2 

    Assay Products for NHLH2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NHLH2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NHLH2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NHLH2 
    Cloud-Clone Corp. CLIAs for NHLH2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q02577

    ProtoNet protein and cluster: Q02577

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: HEN2_HUMAN, Q02577
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    NHLH2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEN2_HUMAN, Q02577
    Function: May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly
    within the developing nervous system

         Genatlas biochemistry entry for NHLH2:
    nescient helix loop helix protein 2,coexpressed in neuroblastoma cell line with NHLH1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IPI16314316
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0046983protein dimerization activity IEA--
         
    NHLH2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NHLH2:
     Increased G2M DNA content  Large cells 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nhlh2):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  integument  mortality/aging  nervous system 
     renal/urinary system  reproductive system 

    NHLH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nhlh2tm1Irk for NHLH2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NHLH2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NHLH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NHLH2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NHLH2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NHLH2
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate NHLH2 (see all 61):
    hsa-miR-576-3p hsa-miR-548j hsa-miR-302d hsa-miR-520e hsa-miR-300 hsa-miR-3616-5p hsa-miR-301a hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidNHLH2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NHLH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NHLH2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NHLH2
    Sirion Biotech Customized adenovirus for overexpression of NHLH2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NHLH2 (see all 11)
    OriGene ORF clones in mouse, rat for NHLH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NHLH2 (NM_005599)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHLH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHLH2
    Sirion Biotech Customized lentivirus for stable overexpression of NHLH2 
                         Customized lentivirus expression plasmids for stable overexpression of NHLH2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NHLH2
    Search LifeMap BioReagents cell lines for NHLH2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLH2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NHLH2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NHLH2
        Transcription factors in neurogenesis




    NHLH2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NHLH2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for NHLH2 (Q025771, 3 ENSP000003220874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMO3Q8TAP43, ENSP000003466894I2D: score=1 STRING: ENSP00000346689
    SIRT1Q96EB61, ENSP000002120154EBI-5378683,EBI-1802965 STRING: ENSP00000212015
    TCF3ENSP000002629654STRING: ENSP00000262965
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007417central nervous system development TAS1328219
    GO:0007617mating behavior IEA--
    GO:0030154cell differentiation IEA--
    GO:0042698ovulation cycle IEA--

    NHLH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NHLH2 (HEN2)

    Search CenterWatch for drugs/clinical trials and news about NHLH2 / HEN2

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NHLH2 gene (2 alternative transcripts): 
    NM_001111061.1  NM_005599.3  

    Unigene Cluster for NHLH2:

    Nescient helix loop helix 2
    Hs.46296  [show with all ESTs]
    Unigene Representative Sequence: M96740
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320238(uc009wgz.3 uc001efy.3) ENST00000369506(uc021osf.1)
    ENST00000429731
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NHLH2
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate NHLH2 (see all 61):
    hsa-miR-576-3p hsa-miR-548j hsa-miR-302d hsa-miR-520e hsa-miR-300 hsa-miR-3616-5p hsa-miR-301a hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidNHLH2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NHLH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NHLH2
    Clone
    Products:
         
    OriGene clones in human, mouse for NHLH2 (see all 11)
    OriGene ORF clones in mouse, rat for NHLH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NHLH2 (NM_005599)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NHLH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHLH2
    Sirion Biotech Customized lentivirus for stable overexpression of NHLH2 
                         Customized lentivirus expression plasmids for stable overexpression of NHLH2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NHLH2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NHLH2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NHLH2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NHLH2

    Additional mRNA sequence: 

    AK307156.1 AK312849.1 BC096359.3 BC096360.1 M96740.1 

    5 DOTS entries:

    DT.91751519  DT.409829  DT.40131636  DT.97768438  DT.100735527 

    6 AceView cDNA sequences:

    AA947913 AI216572 NM_005599 BE045427 AA975977 M96740 

    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™, 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

    NHLH2 expression in normal human tissues (normalized intensities)      NHLH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGGTGCGC
    NHLH2 Expression
    About this image


    NHLH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
     
     Ovary (Reproductive System)
             Ovarian Somatic Cells Ovigerous Cord
     
     Head Mesenchyme (Muscoskeletal System)
             Frontonasal Process
     
     Testis (Reproductive System)
     
     Liver (Hepatobiliary System)

    See NHLH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NHLH2

    SOURCE GeneReport for Unigene cluster: Hs.46296
        SABiosciences Expression via Pathway-Focused PCR Array including NHLH2: 
              T-Cell Anergy & Immune Tolerance in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NHLH2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NHLH2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NHLH2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NHLH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLH2

    (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 animals.

    Orthologs for NHLH2 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nhlh21 , 5 nescient helix loop helix 21, 5 91.85(n)1
    97.78(a)1
      3 (44.30 cM)5
    180721  NM_178777.31  NP_848892.11 
     1020101455 
    chicken
    (Gallus gallus)
    Aves NHLH21 nescient helix loop helix 2 83.21(n)
    85.71(a)
      395578  NM_204797.1  NP_990128.1 
    lizard
    (Anolis carolinensis)
    Reptilia NHLH16
    NHLH26
    Uncharacterized protein
    85(a)
    77(a)
    possible ortholog
    1 ↔ 1
    AAWZ02040013(2204-2462)
    2(82971566-82971985)
    African clawed frog
    (Xenopus laevis)
    Amphibia XHEN12 transcription factor XHEN1 77.06(n)    U94992.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nhlh21 nescient helix loop helix 2 68.87(n)
    74.38(a)
      402968  NM_205669.1  NP_991232.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HLH4C6
    Fer26
    48 related 2
    41(a)
    13(a)
    1 ↔ many
    possible ortholog
    X(4539160-4541447)
    3R(11975291-11977064)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-156
    hlh-136
    Helix-loop-helix protein 13
    57(a)
    20(a)
    1 ↔ many
    possible ortholog
    X(2412969-2413288)
    X(4249249-4250764)


    ENSEMBL Gene Tree for NHLH2 (if available)
    TreeFam Gene Tree for NHLH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NHLH2 gene
    NHLH12  TWIST12  HAND22  TWIST22  TAL12  LYL12  TAL22  TCF152  
    SCXB2  HAND12  SCXA2  
    8 SIMAP similar genes for NHLH2 using alignment to 2 protein entries:     HEN2_HUMAN (see all proteins):
    SCL    TAL2    PTF1A    TCF15    NHLH1    LYL1
    HAND2    TWIST1

    NHLH2 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) 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

    10/109 SNPs in NHLH2 are shown (see all 109)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1394843921,2
    --116378623(+) AATAGC/TTATGT 2 -- ds50010--------
    rs28115671,2
    C,F--116378633(+) TGTTTT/CAGTGT 2 -- ds50013Minor allele frequency- C:0.09NA WA 122
    rs1125862311,2
    C,F--116378643(+) TAGGTC/TACTCC 2 -- ds50012Minor allele frequency- T:0.08CSA WA 120
    rs776753121,2
    C,F--116378833(+) ATCCAC/TGTCCA 2 -- ds50012Minor allele frequency- T:0.17CSA WA 120
    rs1497447311,2
    --116378916(+) CTAAGC/GAATTG 2 -- ds50010--------
    rs1915411661,2
    C--116379212(+) TTTAAA/C/GAGTTT 4 -- ut310--------
    rs796685741,2
    C,F--116379230(+) GAGAAC/TATGAA 2 -- ut311Minor allele frequency- T:0.13WA 118
    rs109235751,2
    C,F,H--116379302(+) TTTTTC/ATTTTT 2 -- ut31 trp34Minor allele frequency- A:0.02NS NA 506
    rs1821818901,2
    --116379356(+) AAACAC/TCACAC 2 -- ut310--------
    rs1860954371,2
    --116379371(+) AAAGAA/GGCTAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NHLH2 (116378998 - 116386538 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NHLH2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv27976CNV Loss19812545
    nsv508559CNV Loss20534489
    nsv831115CNV Gain17160897


    Human Gene Mutation Database (HGMD): NHLH2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NHLH2
    DNA2.0 Custom Variant and Variant Library Synthesis for NHLH2

    (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.)
    About This Section
    OMIM gene information: 162361    OMIM disorders: --

    6 diseases for NHLH2:    About MalaCards
    hypogonadism    neuroblastoma    obesity    rheumatoid arthritis
    arthritis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for NHLH2:
    Egg allergy

    NHLH2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NHLH2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 17633478 (1), 15930276 (1)

    Genetic Association Database (GAD): NHLH2
    Human Genome Epidemiology (HuGE) Navigator: NHLH2 (2 documents)

    Export disorders for NHLH2 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)
    About This Section

    PubMed articles for NHLH2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with NHLH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma. (PubMed id 1528853)1, 2, 3 Brown L.... Baer R. (1992)
    2. Genetic variants at CD28, PRDM1 and CD2/CD58 are asso ciated with rheumatoid arthritis risk. (PubMed id 19898481)1, 4 Raychaudhuri S....Plenge R.M. (2009)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (1997)
    6. A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system. (PubMed id 1328219)1, 2 Lipkowitz S....Kirsch I.R. (1992)
    7. LMO3 interacts with neuronal transcription factor, HEN2, and acts as an oncogene in neuroblastoma. (PubMed id 15930276)1, 9 Aoyama M....Nakagawara A. (2005)
    8. Two single nucleotide polymorphisms in the human nesci ent helix-loop-helix 2 (NHLH2) gene reduce mRNA stability and DNA binding. (PubMed id 23026212)1 Al Rayyan N....Good D.J. (2013)
    9. Biochemical and phosphoproteomic analysis of the helix -loop-helix protein E47. (PubMed id 22354994)1 Teachenor R....Murre C. (2012)
    10. Oncogenic LMO3 collaborates with HEN2 to enhance neur oblastoma cell growth through transactivation of Mash1. (PubMed id 21573214)1 Isogai E....Nakagawara A. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4808 HGNC: 7818 AceView: NHLH2 Ensembl:ENSG00000177551 euGenes: HUgn4808
    ECgene: NHLH2 H-InvDB: NHLH2

    (According to HUGE)
    About This Section
    HUGE: KIAA0490

    (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 NHLH2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NHLH2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NHLH2 gene:
    Search GeneIP for patents involving NHLH2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for NHLH2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for NHLH2  
     OriGene MassSpec something-or-other for NHLH2   OriGene clones in human, mouse for NHLH2  
     OriGene qSTAR qPCR primer pairs in human, mouse for NHLH2   OriGene Purified Protein for NHLH2  
     OriGene ORF clones in mouse, rat for NHLH2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NHLH2   OriGene Custom Protein Services for NHLH2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NHLH2
     QIAGEN SeqTarget long-range PCR primers for resequencing NHLH2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NHLH2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NHLH2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NHLH2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NHLH2
     GenScript Custom Purified and Recombinant Proteins Services for NHLH2 GenScript cDNA clones with any tag delivered in your preferred vector for NHLH2
     GenScript Custom Assay Services for NHLH2 GenScript Custom Superior Antibodies Services for NHLH2
     GenScript Custom overexpressing Cell Line Services for NHLH2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in NHLH2 promoter
     Search Chromatin IP Primers for NHLH2
     RT2 qPCR Primer Assay in human, mouse, rat NHLH2
     Search GNC Networks for NHLH2
     SABiosciences PCR Arrays including human, mouse, rat NHLH2
     Search Tocris compounds for NHLH2 (HEN2)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     NHLH2 antibodies
     NHLH2 proteins
     NHLH2 lysates
     Antibodies for NHLH2
     See all of Abcam's Antibodies, Kits and Proteins for NHLH2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for NHLH2
     Antibodies for NHLH2
     ELISAs for NHLH2
     CLIAs for NHLH2
     Search LifeMap BioReagents cell lines for NHLH2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHLH2
     SwitchGear 3'UTR luciferase reporter plasmids for NHLH2
     SwitchGear Promoter luciferase reporter plasmids for NHLH2
     Search ThermoFisher Antibodies for NHLH2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NHLH2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for NHLH2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NHLH2
    Customized:
     lentivirus for stable overexpression of NHLH2
     lentivirus expression plasmids for stable overexpression of NHLH2
     adenovirus for overexpression of NHLH2
     LSBio Antibodies in human, mouse, rat for NHLH2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NHLH2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4