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NELL1 Gene

protein-coding   GIFtS: 62
GCID: GC11P020647

NEL-Like 1 (Chicken)

(Previous name: nel (chicken)-like 1)
  See NELL1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NEL-Like 1 (Chicken)1 2     IDH3GL2
Nel-Related Protein 12 3     Neural Epidermal Growth Factor-Like 12
NRP12 3     Protein Kinase C-Binding Protein NELL12
Nel (Chicken)-Like 11     NEL-Like Protein 13

External Ids:    HGNC: 77501   Entrez Gene: 47452   Ensembl: ENSG000001659737   OMIM: 6023195   UniProtKB: Q928323   

Export aliases for NELL1 gene to outside databases

Previous GC identifers: GC11P021829 GC11P021492 GC11P020730 GC11P020655 GC11P020382


(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 NELL1 Gene:
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded
heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in
rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Dec 2013)

GeneCards Summary for NELL1 Gene:
NELL1 (NEL-like 1 (chicken)) is a protein-coding gene. Diseases associated with NELL1 include gnathodiaphyseal dysplasia, and craniosynostosis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FBN1.

UniProtKB/Swiss-Prot: NELL1_HUMAN, Q92832
Function: Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation
and terminal mineralization

Gene Wiki entry for NELL1 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_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the NELL1 gene promoter:
         AP-1   Brachyury   ATF-2   HNF-1A   C/EBPalpha   GATA-1   HNF-1   ZIC2/Zic2   c-Jun   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNELL1 promoter sequence
   Search Chromatin IP Primers for NELL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NELL1


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

Entrez Gene cytogenetic band: 11p15.1   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15.1

NELL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NELL1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P020647:  view genomic region     (about GC identifiers)

Start:
20,691,117 bp from pter      End:
21,597,232 bp from pter
Size:
906,116 bases      Orientation:
plus 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: NELL1_HUMAN, Q92832 (See protein sequence)
Recommended Name: Protein kinase C-binding protein NELL1 precursor  
Size: 810 amino acids; 89635 Da
Subunit: Homotrimer. Binds to PKC beta-1 (By similarity). Interacts with ATRAID; the interaction promotes
osteoblast cell differentiation and mineralization
Sequence caution: Sequence=AAB06946.1; Type=Frameshift; Positions=426, 771;
Secondary accessions: B2CKC1 Q4VB90 Q4VB91 Q6NSY8 Q9Y472
Alternative splicing: 2 isoforms:  Q92832-1   Q92832-2   

Explore the universe of human proteins at neXtProt for NELL1: NX_Q92832

Explore proteomics data for NELL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn40, Asn53, Asn83, Asn224, Asn294, Asn372, Asn511, Asn562, Asn609, Asn708,
                                 Asn732, Asn758
  • Modification sites at PhosphoSitePlus

  • See NELL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001275642.1  NP_001275643.1  NP_006148.2  NP_963845.1  

    ENSEMBL proteins: 
     ENSP00000298925   ENSP00000349654   ENSP00000437170   ENSP00000317837  

    NELL1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals NELL1 Protein
    Novus Biologicals NELL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NELL1

     
    Search eBioscience for Proteins for NELL1 

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    LSBio Antibodies in human, mouse, rat for NELL1

    NELL1 Assay Products:

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    Cloud-Clone Corp. CLIAs for NELL1
    Search eBioscience for ELISAs for NELL1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR026823 cEGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site

    Graphical View of Domain Structure for InterPro Entry Q92832

    ProtoNet protein and cluster: Q92832

    5 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001007 von Willebrand factor
    IPB001791 Laminin G
    IPB001881 EGF-like calcium-binding
    IPB003129 Thrombospondin


    UniProtKB/Swiss-Prot: NELL1_HUMAN, Q92832
    Similarity: Contains 5 EGF-like domains
    Similarity: Contains 1 laminin G-like domain
    Similarity: Contains 2 VWFC domains


    Find genes that share domains with NELL1           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: NELL1_HUMAN, Q92832
    Function: Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation
    and terminal mineralization

         Genatlas biochemistry entry for NELL1:
    chicken nel-like 1 homolog with a wide and weak expression,preferentially expressed in cranial intramembranous
    bone and neural tissues (upregulated during unilateral premature closure of the corneal suture) transciently also
    expressed in hematopoietic cells during pre B cell development and in adult and fetal brain,potentially playing
    an oncogenic role in these cells

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with NELL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NELL1:
     Increased G2M DNA content 

         5 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Nell1):
     behavior/neurological  craniofacial  mortality/aging  respiratory system  skeleton 

    Find genes that share phenotypes with NELL1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NELL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NELL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NELL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NELL1

    miRNA
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    miRTarBase miRNAs that target NELL1:
    hsa-mir-16-5p (MIRT031601), hsa-mir-1 (MIRT001352), hsa-mir-181a-5p (MIRT025124), hsa-mir-124-3p (MIRT022578), hsa-mir-186-5p (MIRT021183), hsa-mir-335-5p (MIRT017659)

    Block miRNA regulation of human, mouse, rat NELL1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate NELL1
    SwitchGear 3'UTR luciferase reporter plasmidNELL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NELL1

    Gene Editing
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    OriGene clones in human, mouse for NELL1 (see all 12)
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    GenScript: all cDNA clones in your preferred vector (see all 2): NELL1 (NM_006157)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NELL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NELL1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for NELL1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NELL1


    (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
    NELL1_HUMAN, Q92832: Cytoplasm. Nucleus envelope. Secreted (By similarity). Note=Colocalizes with ATRAID on the
    nuclear envelope and the perinuclear region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular3
    plasma membrane2
    lysosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005635nuclear envelope IDA--
    GO:0005737cytoplasm IDA--
    GO:0048471perinuclear region of cytoplasm IDA--

    Find genes that share ontologies with NELL1           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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    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NELL1 (see all 26)
        MAPK Signaling
    Nuclear Receptor Activation by Vitamin-A
    DHA Signaling
    Actin-Based Motility by Rho Family GTPases
    Telomerase Components in Cell Signaling


        Pathway & Disease-focused RT2 Profiler PCR Array including NELL1: 
              Neurotrophins & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NELL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for NELL1 (Q928321, 2, 3 ENSP000002989254) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNTTIP2Q5QJE62, 3, ENSP000003521374MINT-8187769 I2D: score=1 STRING: ENSP00000352137
    EEF1A1P681042, 3, ENSP000003300544MINT-8187670 I2D: score=1 STRING: ENSP00000330054
    NEXNQ0ZGT22, 3, ENSP000003339384MINT-8187874 I2D: score=1 STRING: ENSP00000333938
    PLCG1P191742, 3, ENSP000002440074MINT-8187719 I2D: score=1 STRING: ENSP00000244007
    SLTMQ9NWH92, 3, ENSP000003698874MINT-8187739 I2D: score=1 STRING: ENSP00000369887
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development TAS8975702
    GO:0010468regulation of gene expression IDA--
    GO:0030154cell differentiation IEA--
    GO:0030501positive regulation of bone mineralization IDA--
    GO:0033689negative regulation of osteoblast proliferation IDA--

    Find genes that share ontologies with NELL1           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 NELL1



    (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 NELL1 gene (4 alternative transcripts): 
    NM_001288713.1  NM_001288714.1  NM_006157.4  NM_201551.2  

    Unigene Cluster for NELL1:

    NEL-like 1 (chicken)
    Hs.657172  [show with all ESTs]
    Unigene Representative Sequence: AK127805
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298925(uc001mqe.3 uc001mqf.3 uc009yid.3 uc010rdo.2 uc010rdp.2)
    ENST00000357134 ENST00000532434 ENST00000528046 ENST00000527873 ENST00000529595
    ENST00000524738 ENST00000528495 ENST00000530672 ENST00000529218(uc001mqh.3)
    ENST00000534263 ENST00000325319
    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate NELL1
    SwitchGear 3'UTR luciferase reporter plasmidNELL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NELL1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NELL1 (NM_006157)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NELL1
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat NELL1
      QuantiFast Probe-based Assays in human, mouse, rat NELL1

    Additional mRNA sequence: 

    AB085898.1 AK093338.1 AK127805.1 AK299558.1 AK303736.1 AK313445.1 BC069674.1 BC096100.1 
    BC096101.1 BC096102.3 BC096103.3 D83017.1 JX565026.1 U57523.1 

    6 DOTS entries:

    DT.453729  DT.101979908  DT.100715059  DT.100012924  DT.75135853  DT.95192896 

    22 AceView cDNA sequences:

    Z40417 F07344 AI373042 BF060997 AA971151 BU658317 W16715 AX748061 
    AK093338 AW663714 AB085898 CK004716 BG206240 AW449806 N79534 AI476435 
    U57523 AA483550 H10041 H10095 BE794416 AI683193 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NELL1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
    SP1:                    -                                                                                   -     -           -                                 
    SP2:                                                                                                                          -           -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            


    ECgene alternative splicing isoforms for NELL1

    (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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    NELL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAAATGTTG
    NELL1 Expression
    About this image


    NELL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
             Ventral/hypothalamic-like neurons
     
     Neurons
             Ventral/hypothalamic-like neurons
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
    NELL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NELL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657172
        Pathway & Disease-focused RT2 Profiler PCR Array including NELL1: 
              Neurotrophins & Receptors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NELL1
    OriGene qSTAR qPCR primer pairs in human, mouse for NELL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NELL1
    QuantiTect SYBR Green Assays in human, mouse, rat NELL1
    QuantiFast Probe-based Assays in human, mouse, rat NELL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NELL1

    (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 NELL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nell11 , 5 NEL-like 1 (chicken)5
    NEL-like 11
    87.9(n)1
    93.33(a)1
      7 (31.79 cM)5
    3383521  NM_001037906.21  NP_001032995.11 
     499748645 
    chicken
    (Gallus gallus)
    Aves NELL11 NEL-like 1 81.14(n)
    87.12(a)
      770845  XM_001234166.3  XP_001234167.2 
    lizard
    (Anolis carolinensis)
    Reptilia NELL16
    NEL-like 1 (chicken)
    87(a)
    1 ↔ 1
    1(57289375-57914291)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nell11 NEL-like 1 74.41(n)
    82.91(a)
      779470  XM_004914195.1  XP_004914252.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01083473.16
    Uncharacterized protein
    44(a)
    many ↔ many
    25(1017583-1036782) ENSDARG00000087922
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0103351 AgaP_AGAP010335 49.33(n)
    41.61(a)
      1272707  XM_311609.4  XP_311609.4 


    ENSEMBL Gene Tree for NELL1 (if available)
    TreeFam Gene Tree for NELL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NELL1 gene
    FBN12  EGFL62  VWCE2  NELL22  NPNT2  FBN22  FBN32  
    5 SIMAP similar genes for NELL1 using alignment to 5 protein entries:     NELL1_HUMAN (see all proteins):
    NELL2    FBLN2    SNED1    NTNG1    DLK1

    Find genes that share paralogs with NELL1           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)
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    Selected SNPs for NELL1 (see all 20616)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358344
    A colorectal cancer sample4--see VAR_0358342 C F mis40--------
    rs1392917751,2
    C,Funtested121556044(+) CTGTCC/TGGGGA 3 S int1 syn11Minor allele frequency- T:0.00NA 4550
    rs1496742451,2
    --20689127(+) GGATTA/CTGGGC 2 -- us2k10--------
    rs1823945761,2
    --20689223(+) GAGGAA/GAGACA 2 -- us2k10--------
    rs781732971,2
    C--20689247(+) ATAATA/GCAACA 2 -- us2k13Minor allele frequency- G:0.07CSA WA NA 240
    rs1873873051,2
    --20689362(+) GTGGAA/TGGAAA 2 -- us2k10--------
    rs1893660791,2
    --20689363(+) TGGAAC/GGAAAA 2 -- us2k10--------
    rs107667111,2
    C,F,A,H--20689421(+) TCCTTT/GGGGTC 2 -- us2k1 tfbs37Minor allele frequency- G:0.15NA CSA WA EA 366
    rs17929691,2
    C,F,O,A,H--20689486(+) GCTCAA/GCTTCT 2 -- us2k124Minor allele frequency- G:0.21MN EA NS NA WA CSA 4205
    rs17929701,2
    C,F,A--20689636(+) CAGAAC/GAGCAT 2 -- us2k116Minor allele frequency- G:0.42MN EA NA WA CSA 2236

    HapMap Linkage Disequilibrium report for NELL1 (20691117 - 20941117 bp, first 250kb of NELL1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NELL1 (see all 59):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744191CNV Deletion23290073
    esv2744194CNV Deletion23290073
    esv2657554CNV Deletion23128226
    esv2662113CNV Deletion23128226
    esv2671301CNV Deletion23128226
    esv2670476CNV Deletion23128226
    esv2744192CNV Deletion23290073
    esv2421865CNV Deletion20811451
    esv2668882CNV Deletion23128226
    esv2744196CNV Deletion23290073

    Human Gene Mutation Database (HGMD): NELL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NELL1
    DNA2.0 Custom Variant and Variant Library Synthesis for NELL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602319    OMIM disorders: --

    2 diseases for NELL1:    
    About MalaCards
    gnathodiaphyseal dysplasia    craniosynostosis

    1 disease from the University of Copenhagen DISEASES database for NELL1:
    Craniosynostosis

    Find genes that share disorders with NELL1           About GenesLikeMe

    Genetic Association Database (GAD): NELL1
    Human Genome Epidemiology (HuGE) Navigator: NELL1 (11 documents)

    Export disorders for NELL1 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 NELL1 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with NELL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of two novel human cDNAs (NELL1 and NELL2) encoding proteins with six EGF-like repeats. (PubMed id 8975702)1, 2, 3 Watanabe T.K.... Takahashi E. (Genomics 1996)
    2. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PubMed id 22379998)1, 4 McCormack M....Cavalleri G.L. (Pharmacogenomics 2012)
    3. NELL-1 binds to APR3 affecting human osteoblast proliferation and differentiation. (PubMed id 21723284)1, 2 Zou X.... Zhang X. (FEBS Lett. 2011)
    4. 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)
    5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Screening for replication of genome-wide SNP associations in sporadic ALS. (PubMed id 18987618)1, 4 Cronin S....Hardiman O. (Eur. J. Hum. Genet. 2009)
    8. Genetic risk profiling and prediction of disease course in Crohn's disease patients. (PubMed id 19422935)1, 4 Henckaerts L....Vermeire S. (Clin. Gastroenterol. Hepatol. 2009)
    9. Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. (PubMed id 19174780)1, 4 Weersma R.K.... Vermeire S. (Am. J. Gastroenterol. 2009)
    10. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 4745 HGNC: 7750 AceView: NELL1.1 Ensembl:ENSG00000165973 euGenes: HUgn4745
    ECgene: NELL1 H-InvDB: NELL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NELL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NELL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NELL1 gene:
    Search GeneIP for patents involving NELL1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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