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NCK2 Gene

protein-coding   GIFtS: 66
GCID: GC02P106361

NCK Adaptor Protein 2

  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)
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Aliases
NCK Adaptor Protein 21 2 3     NCKbeta2
Growth Factor Receptor-Bound Protein 42 3     Cytoplasmic Protein NCK22
GRB42 3     Noncatalytic Region Of Tyrosine Kinase, Beta2
SH2/SH3 Adaptor Protein NCK-Beta2 3     Nck-23

External Ids:    HGNC: 76651   Entrez Gene: 84402   Ensembl: ENSG000000710517   OMIM: 6049305   UniProtKB: O436393   

Export aliases for NCK2 gene to outside databases

Previous GC identifers: GC02P104297 GC02P104885 GC02P106037 GC02P106054 GC02P105926 GC02P105727 GC02P100201


(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 NCK2 Gene:
This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one
SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins
involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that
this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice
variants, encoding different isoforms, have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for NCK2 Gene:
NCK2 (NCK adaptor protein 2) is a protein-coding gene. Diseases associated with NCK2 include craniofrontonasal syndrome, and low tension glaucoma. GO annotations related to this gene include receptor signaling complex scaffold activity and cytoskeletal adaptor activity. An important paralog of this gene is GRAP.

UniProtKB/Swiss-Prot: NCK2_HUMAN, O43639
Function: Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular
substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a
role in ELK1-dependent transcriptional activation in response to activated Ras signaling

Gene Wiki entry for NCK2 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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NCK2 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   E2F-2   GATA-1   E2F   E2F-1   Nkx6-1   COMP1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNCK2 promoter sequence
   Search Chromatin IP Primers for NCK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NCK2


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

Entrez Gene cytogenetic band: 2q12   Ensembl cytogenetic band:  2q12.2   HGNC cytogenetic band: 2q12

NCK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NCK2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P106361:  view genomic region     (about GC identifiers)

Start:
106,361,354 bp from pter      End:
106,510,730 bp from pter
Size:
149,377 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NCK2_HUMAN, O43639 (See protein sequence)
Recommended Name: Cytoplasmic protein NCK2  
Size: 380 amino acids; 42915 Da
Subunit: Interacts with DOCK1, LIMS1 and TGFB1I1. Part of a complex containing PPP1R15B, PP1 and NCK2. Interacts
with FASLG (By similarity). Interacts with AXL. Interacts with PAK1, PKN2 and SOS1. Interacts (via SH2 domain)
with EGFR. Interacts (via SH2 domain) with DDR1
Selected PDB 3D structures from and Proteopedia for NCK2 (see all 9):
1U5S (3D)        1WX6 (3D)        1Z3K (3D)        2B86 (3D)        2CIA (3D)        2FRW (3D)    
Secondary accessions: D3DVK1 Q9BWN9 Q9UIC3

Explore the universe of human proteins at neXtProt for NCK2: NX_O43639

Explore proteomics data for NCK2 at MOPED

Post-translational modifications: 

  • Phosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NCK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001004720.1  NP_001004722.1  NP_003572.2  

    ENSEMBL proteins: 
     ENSP00000233154   ENSP00000377017   ENSP00000431109   ENSP00000408040   ENSP00000377018  
     ENSP00000410428  
    Reactome Protein details: O43639

    NCK2 Human Recombinant Protein Products:

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    NCK2 Antibody Products:

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    NCK2 Assay Products:

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    Cloud-Clone Corp. ELISAs for NCK2
    Cloud-Clone Corp. CLIAs for NCK2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SH2D: SH2 domain containing

    4 InterPro protein domains:
     IPR001452 SH3_domain
     IPR028524 NCK2
     IPR017304 NCK
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry O43639

    ProtoNet protein and cluster: O43639

    2 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: NCK2_HUMAN, O43639
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 3 SH3 domains


    NCK2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NCK2_HUMAN, O43639
    Function: Adapter protein which associates with tyrosine-phosphorylated growth factor receptors or their cellular
    substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a
    role in ELK1-dependent transcriptional activation in response to activated Ras signaling

         Genatlas biochemistry entry for NCK2:
    transduction adaptator protein 2 interacting with EGFR and PDGFR

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10026169
    GO:0008093cytoskeletal adaptor activity NAS12110186
    GO:0019887protein kinase regulator activity ----
    GO:0030159receptor signaling complex scaffold activity NAS12110186
         
    NCK2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for NCK2:
     Decreased cilium length  Decreased cilium length after   Decreased focal adhesion (FA)   Decreased influenza A/WSN/33 r 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Nck2):
     behavior/neurological  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  normal  renal/urinary system 

    NCK2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nck2tm1Paw for NCK2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NCK2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NCK2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NCK2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NCK2

    miRNA
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    miRTarBase miRNAs that target NCK2:
    hsa-mir-877-3p (MIRT036831), hsa-mir-128-3p (MIRT021929)

    Block miRNA regulation of human, mouse, rat NCK2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NCK2 (see all 18):
    hsa-miR-548v hsa-miR-3613-3p hsa-miR-1193 hsa-miR-556-3p hsa-miR-613 hsa-miR-580 hsa-miR-31 hsa-miR-505
    SwitchGear 3'UTR luciferase reporter plasmidNCK2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NCK2

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    GenScript: all cDNA clones in your preferred vector (see all 3): NCK2 (NM_003581)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCK2


    (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
    NCK2_HUMAN, O43639: Cytoplasm. Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol4
    cytoskeleton2
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS12110186
    GO:0005783endoplasmic reticulum IEA--
    GO:0005829cytosol TAS--
    GO:0012506vesicle membrane IEA--

    NCK2 for ontologies           About GeneDecksing


    (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 NCK2 About   (see all 33)  
    See pathways by source

    SuperPathContained pathways About
    1EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    Ephrin-Eph Signaling0.58
    2Development Slit Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    3Signaling by FGFR
    Downstream signal transduction0.90
    Signaling by PDGF0.87
    4L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    5Signaling by Robo receptor
    Signaling by Robo receptor
    Activation of Rac0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NCK2 (see all 13)
        Caspase Cascade
    Paxillin Interactions
    Guidance Cues and Growth Cone Motility
    Netrin Signaling
    Ephrin-Eph Signaling

    3 GeneGo (Thomson Reuters) Pathways for NCK2
        Cytoskeleton remodeling Integrin outside-in signaling
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cell adhesion Ephrins signaling

    Selected BioSystems Pathways for NCK2 (see all 10)
        EGFR1 Signaling Pathway
    BDNF signaling pathway
    Pathogenic Escherichia coli infection
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    IGF1 pathway

    3 Reactome Pathways for NCK2
        Nephrin interactions
    Downstream signal transduction
    Activation of Rac


    4 Kegg Pathways  (Kegg details for NCK2):
        ErbB signaling pathway
    Axon guidance
    T cell receptor signaling pathway
    Pathogenic Escherichia coli infection


    NCK2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NCK2: 
              Cytoskeleton Regulators in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NCK2

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

    Selected Interacting proteins for NCK2 (O436391, 2, 3 ENSP000002331544) via UniProtKB, MINT, STRING, and/or I2D (see all 162)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDR1Q083451, 2, 3, ENSP000004060914EBI-713635,EBI-711879 MINT-74881 MINT-74880 MINT-74879 I2D: score=2 STRING: ENSP00000406091
    EFNB2P527991, 2, 3, ENSP000002453234EBI-713635,EBI-7532268 MINT-8036407 MINT-8038295 MINT-8027798 MINT-8027813 MINT-8038280 MINT-8027783 MINT-8038342 I2D: score=2 STRING: ENSP00000245323
    ENSG00000234078Q083451, 2, 3, ENSP000004013974EBI-713635,EBI-711879 MINT-74881 MINT-74880 MINT-74879 I2D: score=2 STRING: ENSP00000401397
    ENSG00000137332Q083451, 2, 3EBI-713635,EBI-711879 MINT-74881 MINT-74880 MINT-74879 I2D: score=2 
    ENSG00000215522Q083451, 2, 3EBI-713635,EBI-711879 MINT-74881 MINT-74880 MINT-74879 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006417regulation of translation IEA--
    GO:0007015actin filament organization IEA--
    GO:0007165signal transduction TAS9737977
    GO:0007172signal complex assembly NAS12110186
    GO:0007173epidermal growth factor receptor signaling pathway TAS9737977

    NCK2 for ontologies           About GeneDecksing



    (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 NCK2

    1 Novoseek inferred chemical compound relationship for NCK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 33.8 2 10026169 (1), 11950595 (1)



    NCK2 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NCK2 gene (3 alternative transcripts): 
    NM_001004720.2  NM_001004722.3  NM_003581.4  

    Unigene Cluster for NCK2:

    NCK adaptor protein 2
    Hs.529244  [show with all ESTs]
    Unigene Representative Sequence: NM_003581
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000233154(uc002tdg.3) ENST00000393348 ENST00000522586 ENST00000425756
    ENST00000393349(uc002tdi.3) ENST00000451463(uc002tdh.3)
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    hsa-miR-548v hsa-miR-3613-3p hsa-miR-1193 hsa-miR-556-3p hsa-miR-613 hsa-miR-580 hsa-miR-31 hsa-miR-505
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    Additional mRNA sequence: 

    AF043119.1 AF047487.1 BC000103.2 BC007195.1 BC033176.1 

    6 DOTS entries:

    DT.100793391  DT.95206648  DT.91832436  DT.99946387  DT.95206654  DT.97796366 

    Selected AceView cDNA sequences (see all 270):

    BE409030 AI383371 BU163786 BE302645 CR594525 AI587381 BM808677 BM550470 
    BE383330 AI573205 BM808787 BM723943 CR597804 BQ711303 BU501745 BX391950 
    BM911572 BE464192 BG748975 BQ072174 BX360662 AI142886 BE731684 AW338080 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NCK2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b
    SP1:                              
    SP2:              -               


    ECgene alternative splicing isoforms for NCK2

    (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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    NCK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCCCGGAC
    NCK2 Expression
    About this image


    NCK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             Substantia Nigra   
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
    NCK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NCK2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.529244

    UniProtKB/Swiss-Prot: NCK2_HUMAN, O43639
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NCK2: 
              Cytoskeleton Regulators in human mouse rat
              EGF / PDGF Signaling Pathway in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NCK2

    (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 NCK2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nck21 , 5 non-catalytic region of tyrosine kinase adaptor protein more1, 5 88.6(n)1
    96.05(a)1
      1 (23.18 cM)5
    179741  NM_010879.31  NP_035009.31 
     434457515 
    chicken
    (Gallus gallus)
    Aves NCK21 NCK adaptor protein 2 78.33(n)
    92.89(a)
      418727  NM_001030814.1  NP_001025985.1 
    lizard
    (Anolis carolinensis)
    Reptilia NCK26
    NCK adaptor protein 2
    92(a)
    1 ↔ 1
    3(108603203-108647179)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY354455.12   -- 75.5(n)    AY354455.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC046872.12   -- 78.44(n)   393972  BC046872.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dock3 axon guidance SH3/SH2 adaptor protein 42(a)   2 21D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea ZK470.5b3
    nck-11
    nck-11 42(a)
    (best of 2)3
    51.06(n)1
    47.93(a)1
      X(4184350-4185897)3
    1806901  NM_076305.51  NP_508706.21 


    ENSEMBL Gene Tree for NCK2 (if available)
    TreeFam Gene Tree for NCK2 (if available)

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

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    Paralogs for NCK2 gene
    GRAP2  GRAPL2  NCK12  GRAP22  GRB22  
    Selected SIMAP similar genes for NCK2 using alignment to 6 protein entries:     NCK2_HUMAN (see all proteins) (see all similar genes):
    NCK1    EPS8    EPS8L2    FYN    EPS8L1    HCK
    BLK    FGR    YES1    BTK    STAC2    SPTAN1
    LYN    LCK    CSK    SH3BP4    ARHGEF7    BCR/ABL fusion

    NCK2 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), 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 NCK2 (see all 3145)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1471383811,2
    C--106359530(+) GGAAG-/ACAACAAC 2 -- us2k10--------
    rs761382251,2
    F--106359537(+) AACAAC/ACTCTC 2 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1843169381,2
    --106359559(+) GATGGA/GCAGGT 2 -- us2k10--------
    rs75828861,2
    C,F,A,H--106359698(+) ATTTAG/CATAGA 2 -- us2k119Minor allele frequency- C:0.19NS EA NA WA CSA 2026
    rs793037741,2
    F--106359701(+) TAGATA/GGAGAA 2 -- us2k11Minor allele frequency- G:0.01EA 120
    rs762370911,2
    C,F--106359713(+) GACATC/TGGTGA 2 -- us2k12Minor allele frequency- T:0.01NA EA 240
    rs1882237781,2
    C--106359800(+) AACTGA/GGTCAA 2 -- us2k10--------
    rs798699491,2
    --106359999(+) CTGATC/TCCTGC 2 -- us2k10--------
    rs1156093281,2
    F--106360106(+) ATGACA/GGATTT 2 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1809814251,2
    C--106360273(+) ACAGCC/TTTGTA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for NCK2 (106361354 - 106510730 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NCK2 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668709CNV Deletion23128226
    esv2676187CNV Deletion23128226
    esv270355CNV Insertion20981092
    esv2478624CNV Insertion19546169
    esv273223CNV Insertion20981092
    nsv834321CNV Loss17160897
    esv24019CNV Loss19812545
    nsv10108CNV Loss18304495
    nsv482913CNV Gain15286789
    esv26794CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NCK2
    DNA2.0 Custom Variant and Variant Library Synthesis for NCK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604930    OMIM disorders: --

    9 diseases for NCK2:    
    About MalaCards
    craniofrontonasal syndrome    low tension glaucoma    glaucoma    down syndrome
    cerebritis    ataxia    hepatitis b    melanoma
    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for NCK2:
    Low tension glaucoma     Craniofrontonasal syndrome

    NCK2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NCK2
    Human Genome Epidemiology (HuGE) Navigator: NCK2 (3 documents)

    Export disorders for NCK2 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 NCK2 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with NCK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of Nck family genes, chromosomal localization, expression, and signaling specificity. (PubMed id 9737977)1, 2, 3 Chen M....Li W. (J. Biol. Chem. 1998)
    2. Identification of Grb4/Nckbeta, a src homology 2 and 3 domain- containing adapter protein having similar binding and biological properties to Nck. (PubMed id 10026169)1, 2, 9 Braverman L.E. and Quilliam L.A. (J. Biol. Chem. 1999)
    3. 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)
    4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    5. Structural insight into the binding diversity between the human Nck2 SH3 domains and proline-rich proteins. (PubMed id 16752908)1, 3 Liu J....Song J. (Biochemistry 2006)
    6. Pinpointing phosphotyrosine-dependent interactions downstream of the collagen receptor DDR1. (PubMed id 16337946)1, 2 Koo D.H....Vogel W.F. (FEBS Lett. 2006)
    7. Nck in a complex containing the catalytic subunit of protein phosphatase 1 regulates eukaryotic initiation factor 2alpha signaling and cell survival to endoplasmic reticulum stress. (PubMed id 16835242)1, 2 Latreille M. and Larose L. (J. Biol. Chem. 2006)
    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. Interaction of Axl receptor tyrosine kinase with C1-TEN, a novel C1 domain-containing protein with homology to tensin. (PubMed id 12470648)1, 2 Hafizi S.... Dahlbaeck B. (Biochem. Biophys. Res. Commun. 2002)
    10. Identification and kinetic analysis of the interaction between Nck-2 and DOCK180. (PubMed id 11240126)1, 2 Tu Y.... Wu C. (FEBS Lett. 2001)

    (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: 8440 HGNC: 7665 AceView: NCK2 Ensembl:ENSG00000071051 euGenes: HUgn8440
    ECgene: NCK2 Kegg: 8440 H-InvDB: NCK2

    (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 NCK2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NCK2 gene:
    Search GeneIP for patents involving NCK2

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



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