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

KIDINS220 Gene

protein-coding   GIFtS: 58
GCID: GC02M008865

Kinase D-Interacting Substrate, 220kDa

  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
Kinase D-Interacting Substrate, 220kDa1 2
Ankyrin Repeat-Rich Membrane-Spanning Protein1 2 3
ARMS2 3
Ankyrin Repeat-Rich Membrane Spanning2
Kinase D-Interacting Substrate Of 220 KDa2
KIAA12503

External Ids:    HGNC: 295081   Entrez Gene: 574982   Ensembl: ENSG000001343137   UniProtKB: Q9ULH03   

Export aliases for KIDINS220 gene to outside databases

Previous GC identifers: GC02U990270 GC02M008920 GC02M008890 GC02M008819 GC02M008786 GC02M008715


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

GeneCards Summary for KIDINS220 Gene: 
KIDINS220 (kinase D-interacting substrate, 220kDa) is a protein-coding gene. Diseases associated with KIDINS220 include substance abuse, and melanoma, and among its related super-pathways are Frs2-mediated activation and NGF signalling via TRKA from the plasma membrane. An important paralog of this gene is TANC2.

UniProtKB/Swiss-Prot: KDIS_HUMAN, Q9ULH0
Function: Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent
mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK
activation. May play an important role in regulating postsynaptic signal transduction through the
syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can
enhance EPHA4-induced JAK/STAT activation. May play a role in neurotrophin- and ephrin-mediated neuronal
outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates
stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway

Gene Wiki entry for KIDINS220 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005334.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIDINS220 gene promoter:
         TBP   LHX3b/Lhx3b   AML1a   GATA-3   TFIID   LHX3a/Lhx3a   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIDINS220 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIDINS220

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIDINS220


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

Entrez Gene cytogenetic band: 2p24   Ensembl cytogenetic band:  2p25.1   HGNC cytogenetic band: 2p24

KIDINS220 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIDINS220 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M008865:  view genomic region     (about GC identifiers)

Start:
8,865,408 bp from pter      End:
8,977,760 bp from pter
Size:
112,353 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: KDIS_HUMAN, Q9ULH0 (See protein sequence)
Recommended Name: Kinase D-interacting substrate of 220 kDa  
Size: 1771 amino acids; 196542 Da
Subunit: Interacts with NTRK1, NTRK2, NTRK3, ERKL and NGFR. Can form a ternary complex with NGFR and NTRK1 and
this complex is affected by the expression levels of KIDINS220/ARMS. An increase in KIDINS220/ARMS expression
leads to a decreased association of NGFR and NTRK1. Interacts with SNTA1 and SNTB2 and binds to their PDZ
domains. Interacts with EPHA4 and PRKD1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAA86564.2; Type=Erroneous initiation; Sequence=BAB14728.1; Type=Erroneous initiation;
Secondary accessions: A1L4N4 Q4VC08 Q6MZU2 Q9H889 Q9H9E4 Q9NT37 Q9UF42
Alternative splicing: 5 isoforms:  Q9ULH0-1   Q9ULH0-2   Q9ULH0-3   Q9ULH0-4   Q9ULH0-5   

Explore the universe of human proteins at neXtProt for KIDINS220: NX_Q9ULH0

Explore proteomics data for KIDINS220 at MOPED 

Post-translational modifications:

  • UniProtKB: Tyrosine phosphorylated by NTRK1, NTRK2, EPHB2 and EPHA4. Phosphorylation at Ser-918 is induced by phorbol ester
    treatment. Phosphorylation by NTRK2 is induced by brain-derived neurotrophic factor (BDNF) and neurotrophin-4/5.
    Phosphorylation by NTRK1 is induced by nerve growth factor (NGF) (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9ULH0

  • KIDINS220 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIDINS220 Protein Expression
    REFSEQ proteins: NP_065789.1  
    ENSEMBL proteins: 
     ENSP00000420364   ENSP00000256707   ENSP00000418974   ENSP00000417390   ENSP00000419964  
     ENSP00000419232   ENSP00000319947   ENSP00000411849   ENSP00000414923  
    Reactome Protein details: Q9ULH0
    Human Recombinant Protein Products for KIDINS220: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005770late endosome ISS--
    GO:0005829cytosol TAS--
    GO:0016021integral to membrane IEA--
    GO:0043234protein complex ISS--

    KIDINS220 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    4 InterPro protein domains:
     IPR013761 SAM/pointed
     IPR011646 KAP_NTPase
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q9ULH0

    ProtoNet protein and cluster: Q9ULH0

    1 Blocks protein domain: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: KDIS_HUMAN, Q9ULH0
    Domain: The transmembrane domain mediates interaction with NTRK1 (By similarity)
    Similarity: Contains 12 ANK repeats
    Similarity: Contains 1 KAP NTPase domain


    KIDINS220 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: KDIS_HUMAN, Q9ULH0
    Function: Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent
    mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK
    activation. May play an important role in regulating postsynaptic signal transduction through the
    syntrophin-mediated localization of receptor tyrosine kinases such as EPHA4. In cooperation with SNTA1 can
    enhance EPHA4-induced JAK/STAT activation. May play a role in neurotrophin- and ephrin-mediated neuronal
    outgrowth and in axon guidance during neural development and in neuronal regeneration (By similarity). Modulates
    stress-induced apoptosis of melanoma cells via regulation of the MEK/ERK signaling pathway

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0030165PDZ domain binding ISS--
         
    KIDINS220 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KIDINS220:
     Decreased viability with pacli 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kidins220):
     mortality/aging  nervous system 

    KIDINS220 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kidins220tm1.1Mvc for KIDINS220

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIDINS220 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KIDINS220

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIDINS220 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KIDINS220 

    miRNA
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    miRTarBase miRNAs that target KIDINS220:
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate KIDINS220 (see all 14):
    hsa-miR-576-5p hsa-miR-4263 hsa-miR-554 hsa-miR-888 hsa-miR-371-5p hsa-miR-192 hsa-miR-373* hsa-miR-3680
    SwitchGear 3'UTR luciferase reporter plasmidKIDINS220 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIDINS220


    (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 KIDINS220 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1ARMS-mediated activation
    Prolonged ERK activation events0.90
    ARMS-mediated activation0.80
    2Signaling by FGFR
    NGF signalling via TRKA from the plasma membrane0.71
    Signalling by NGF0.71
    3Signalling to RAS
    Signalling to ERKs0.73
    4Signaling by GPCR
    Signal Transduction0.55
    5Development HGF signaling pathway
    Neurotrophin signaling pathway0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for KIDINS220
        BDNF signaling pathway

    5/6        Reactome Pathways for KIDINS220 (see all 6)
        ARMS-mediated activation
    Signal Transduction
    Signalling by NGF
    Prolonged ERK activation events
    Signalling to ERKs


    1         Kegg Pathway  (Kegg details for KIDINS220):
        Neurotrophin signaling pathway


    KIDINS220 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIDINS220

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

    5/16 Interacting proteins for KIDINS220 (Q9ULH02, 3 ENSP000002567074) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MOB4Q9Y3A32, 3MINT-65841 I2D: score=5 
    NTRK1P046292, 3, ENSP000003514864MINT-7188184 I2D: score=3 STRING: ENSP00000351486
    CDC73Q6P1J93, ENSP000003564054I2D: score=3 STRING: ENSP00000356405
    CRKLP461093, ENSP000003463004I2D: score=3 STRING: ENSP00000346300
    NGFRP081383, ENSP000001722294I2D: score=2 STRING: ENSP00000172229
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000186activation of MAPKK activity TAS--
    GO:0001701in utero embryonic development IEA--
    GO:0010976positive regulation of neuron projection development ISS--
    GO:0016482cytoplasmic transport ISS--
    GO:0038180nerve growth factor signaling pathway ISS--

    KIDINS220 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 KIDINS220 (KDIS)

    Search CenterWatch for drugs/clinical trials and news about KIDINS220 / KDIS

    (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 KIDINS220 gene: 
    NM_020738.2  

    Unigene Cluster for KIDINS220:

    Kinase D-interacting substrate, 220kDa
    Hs.9873  [show with all ESTs]
    Unigene Representative Sequence: NM_020738
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000436566 ENST00000496383 ENST00000256707(uc002qzc.2) ENST00000473731
    ENST00000488729 ENST00000489024 ENST00000471685 ENST00000459813(uc002qze.3)
    ENST00000319688 ENST00000474782 ENST00000471275 ENST00000496725 ENST00000427284(uc002qzb.2)
    ENST00000418530(uc010yiv.1 uc002qzd.2 uc010yiw.1)
    miRNA
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    hsa-miR-576-5p hsa-miR-4263 hsa-miR-554 hsa-miR-888 hsa-miR-371-5p hsa-miR-192 hsa-miR-373* hsa-miR-3680
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    Additional mRNA sequence: 

    AB033076.2 AB621829.1 AK022873.1 AK023926.1 AK025528.1 AK057125.1 AK294464.1 AK294832.1 
    AK295358.1 AK296459.1 AL133620.1 AL137553.1 BC039409.1 BC094714.1 BC130610.1 BX538189.1 
    BX640878.1 

    16 DOTS entries:

    DT.318126  DT.40294526  DT.92036765  DT.100788484  DT.100788482  DT.120959596  DT.92431823  DT.101968211 
    DT.120959630  DT.120758684  DT.120959616  DT.120959628  DT.86838969  DT.91657622  DT.91741022  DT.95257091 

    24/273 AceView cDNA sequences (see all 273):

    AB033076 AI861910 AI092256 AA648418 BU581184 CA448925 BQ722258 BX440076 
    AI312106 AI421078 AA350027 BM681020 AI016412 BM985061 AI421898 BM726014 
    N83544 BF365934 AI142428 BM727170 AA349359 AA992480 AA932863 BM969199 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for KIDINS220 (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                    -     -                                   -                       -                 -                                                   
    SP2:                    -     -                                   -                       -                 -                                                   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                    -                                                                                                                                       

    ExUns: 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b · 32c ^ 33a · 33b ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                      -     -     -     -     -     -                                       
    SP4:                                                                                      -                 -     -     -                                       
    SP5:                                                                                                                                                            

    ExUns: 33c ^ 34
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for KIDINS220

    (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

    KIDINS220 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIDINS220 Expression
    About this image


    See KIDINS220 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIDINS220

    SOURCE GeneReport for Unigene cluster: Hs.9873

    UniProtKB/Swiss-Prot: KDIS_HUMAN, Q9ULH0
    Tissue specificity: Abundant in developing and adult neural tissues as well as neuroendocrine cells and dendritic
    cells. Overexpressed in melanoma and melanoma cell lines

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    (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 KIDINS220 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kidins2201 , 5 kinase D-interacting substrate 2201, 5 86.55(n)1
    94.12(a)1
      12 (8.54 cM)5
    774801  NM_001081378.11  NP_001074847.11 
     249749325 
    chicken
    (Gallus gallus)
    Aves KIDINS2201 kinase D-interacting substrate, 220kDa 79.71(n)
    87.22(a)
      421924  XM_419939.2  XP_419939.2 
    lizard
    (Anolis carolinensis)
    Reptilia KIDINS2206
    Uncharacterized protein
    85(a)
    1 ↔ 1
    1(148886327-148951304)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.140362 Xenopus laevis transcribed sequence with weak similarity more 76.84(n)    CA985593.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj35h032 wufj35h03 74.57(n)   335881  BC061450.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426721 CG42672 49.14(n)
    43.09(a)
      37433  NM_166442.3  NP_726060.3 
    worm
    (Caenorhabditis elegans)
    Secernentea F36H1.23
    tag-1441
    ankyrin like3
    Protein TAG-1441
    35(a)3
    49.98(n)1
    40.1(a)1
      IV(11039059-11047194)3
    1780001  NM_001083218.31  NP_001076687.21 


    ENSEMBL Gene Tree for KIDINS220 (if available)
    TreeFam Gene Tree for KIDINS220 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIDINS220 gene
    TANC22  ANKS32  ANKRD172  ANKRD292  FEM1A2  ANKHD12  FANK12  RNASEL2  
    ANKHD1-EIF4EBP32  FEM1B2  TANC12  ANKS62  FEM1C2  
    16 SIMAP similar genes for KIDINS220 using alignment to 6 protein entries:     KDIS_HUMAN (see all proteins):
    DKFZp686H14204    ANKRD12    ANKRD44    ANKRD29    ANK2    ANKDD1A
    FANK1    CDKN2C    TANC2    TNKS    GPR75-ASB3    DKFZp761E1322
    MTPN    PSMD10    ANKRD10    CDKN2A

    KIDINS220 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

    10/1972 SNPs in KIDINS220 are shown (see all 1972)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs748853191,2
    C,F--8868517(+) TGGATA/TGAATC 1 -- ds50012Minor allele frequency- T:0.09NA 122
    rs1406443031,2
    --8868545(+) CACCAA/GTTTCT 1 -- ds50010--------
    rs760032311,2
    C,F--8868625(+) AGATAC/TACACA 1 -- ds50012Minor allele frequency- T:0.08NA EA 240
    rs1834459991,2
    --8868793(+) AGGAAC/TGCACT 1 -- ds50010--------
    rs1878899391,2
    --8869133(+) CAGTAC/TAAAGA 1 -- ut310--------
    rs115526141,2
    C,F,H--8869174(+) CTCACC/TTGAAA 1 -- ut31 ese34Minor allele frequency- T:0.01NS NA 504
    rs1836704741,2
    --8869194(+) TTGTCC/TCTGAA 1 -- ut310--------
    rs1409349951,2
    C--8869275(+) TGTCAA/GTAACA 1 -- ut310--------
    rs1895521291,2
    --8869282(+) AACATC/TCTGCC 1 -- ut310--------
    rs1923604121,2
    --8869358(+) ATTACA/CCTCAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIDINS220 (8865408 - 8977760 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KIDINS220:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2585545CNV Deletion19546169
    nsv833359CNV Loss17160897

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    (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.)
    About This Section
    3 diseases for KIDINS220:    About MalaCards
    substance abuse    melanoma    neuronitis


    KIDINS220 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KIDINS220

    Export disorders for KIDINS220 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 KIDINS220 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with KIDINS220)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2, 3 Nagase T.... Ohara O. (1999)
    2. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PubMed id 21507922)1, 4 Ramsuran V....Ndung'u T. (2011)
    3. ARMS depletion facilitates UV irradiation induced apoptotic cell death in melanoma. (PubMed id 18089783)1, 2 Liao Y.-H.... Huang P.-H. (2007)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Identification and cloning of Kidins220, a novel neuronal substrate of protein kinase D. (PubMed id 10998417)1, 3 Iglesias T....Schiavo G. (2000)
    6. Kidins220 accumulates with tau in human Alzheimer's di sease and related models: modulation of its calpain-processing by GSK3b/PP1 imba lance. (PubMed id 23118350)1 Lopez-Menendez C....Iglesias T. (2013)
    7. Kidins220/ARMS depletion is associated with the neural -to Schwann-like transition in a human neuroblastoma cell line model. (PubMed id 23333500)1 Rogers D.A. and Schor N.F. (2013)
    8. Kidins220/ARMS associates with B-Raf and the TCR, prom oting sustained Erk signaling in T cells. (PubMed id 23359496)1 Deswal S....Schamel W.W. (2013)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. Kidins220/ARMS interacts with Pdzrn3, a protein contai ning multiple binding domains. (PubMed id 22609016)1 Andreazzoli M....Dente L. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 57498 HGNC: 29508 AceView: KIDINS220 Ensembl:ENSG00000134313 euGenes: HUgn57498
    ECgene: KIDINS220 Kegg: 57498 H-InvDB: KIDINS220

    (According to HUGE)
    About This Section
    HUGE: KIAA1250

    (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 KIDINS220 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KIDINS220 gene:
    Search GeneIP for patents involving KIDINS220

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



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