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

ALK Gene

protein-coding   GIFtS: 65
GCID: GC02M029327

anaplastic lymphoma receptor tyrosine kinase

(Previous name: anaplastic lymphoma kinase (Ki-1) )
 Explore 62 diseases affiliated with
ALK via our new
 Human Malady Compendium 
Biological research products
for ALK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Anaplastic Lymphoma Receptor Tyrosine Kinase1 2     Anaplastic Lymphoma Kinase (Ki-1)1
CD2461 2     ALK Tyrosine Kinase Receptor2
CD246 Antigen2 3     Mutant Anaplastic Lymphoma Kinase2
EC 2.7.10.13 8     Anaplastic Lymphoma Kinase3
NBLST32 5     

External Ids:    HGNC: 4271   Entrez Gene: 2382   Ensembl: ENSG000001710947   OMIM: 1055905   UniProtKB: Q9UM733   

Export aliases for ALK gene to outside databases

Previous GC identifers: GC02M029337 GC02M029508 GC02M029390 GC02M029269 GC02M029156


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

Entrez Gene summary for ALK:
This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises
an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an
intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on
specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series
of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal
rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes
in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome
2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC
(chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).(provided by RefSeq, Jan 2011)

UniProtKB/Swiss-Prot: ALK_HUMAN, Q9UM73
Function: Neuronal orphan receptor tyrosine kinase that is essentially and transiently expressed in specific regions of
the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the
nervous system. Transduces signals from ligands at the cell surface, through specific activation of the
mitogen-activated protein kinase (MAPK) pathway. Phosphorylates almost exclusively at the first tyrosine of the
Y-x-x-x-Y-Y motif. Following activation by ligand, ALK induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1,
as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Acts as a receptor for ligands pleiotrophin (PTN), a secreted
growth factor, and midkine (MDK), a PTN-related factor, thus participating in PTN and MDK signal transduction.
PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation
of cell proliferation. MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1),
activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction.
Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase. Recruitment
of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival
signaling of MDK

Gene Wiki entry for ALK (Anaplastic lymphoma kinase)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALK gene promoter:
         p53   AP-1   ATF-2   Nkx2-5   CUTL1   AREB6   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ALK promoter sequence
   Search SABiosciences Chromatin IP Primers for ALK

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


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

Entrez Gene cytogenetic band: 2p23   Ensembl cytogenetic band:  2p23.1   HGNC cytogenetic band: 2p23

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M029327:  view genomic region     (about GC identifiers)

Start:
29,415,640 bp from pter      End:
30,144,432 bp from pter
Size:
728,793 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ALK_HUMAN, Q9UM73 (See protein sequence)
Recommended Name: ALK tyrosine kinase receptor precursor  
Size: 1620 amino acids; 176442 Da
Subunit: Homodimer. Homodimerizes when bound to ligand. Interacts with FRS2, IRS1, MDK, PTN and SHC1. Interacts with
CBL, PIK3R1 and PLCG1 (By similarity)
Subcellular location: Cell membrane; Single-pass type I membrane protein. Note=Membrane attachment was crucial for
promotion of neuron-like differentiation and cell proliferation arrest through specific activation of the MAP kinase
pathway
Sequence caution: Sequence=BAD92714.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/23 PDB 3D structures from and Proteopedia for ALK (see all 23):
2KUP (3D)        2KUQ (3D)        2XB7 (3D)        2XBA (3D)        2XP2 (3D)        2YFX (3D)    
Secondary accessions: Q4ZFX9 Q53QQ6 Q53RZ4 Q59FI3 Q9Y4K6

Explore the universe of human proteins at neXtProt for ALK: NX_Q9UM73

Post-translational modifications:

  • Phosphorylated at tyrosine residues by autocatalysis, which activates kinase activity. In cells not stimulated by a
  • ligand, receptor protein tyrosine phosphatase beta and zeta complex (PTPRB/PTPRZ1) dephosphorylates ALK at the sites
    in ALK that are undergoing autophosphorylation through autoactivation1
  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UM73

  • 4/5 DME Specific Peptides for ALK (Q9UM73) (see all 5)
     WEIFSLG  YILVGQQG  KIGDFGMARDIY  CPGPVYRIMTQCWQH 

    ALK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004295.2  
    ENSEMBL proteins: 
     ENSP00000373700   ENSP00000387488   ENSP00000414027  

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    Novus Biologicals ALK Proteins
    Novus Biologicals ALK Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ALK
    Uscn Proteins for ALK

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane TAS19459784


    ALK for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ALK for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR002172 LDrepeatLR_classA_rpt
     IPR017441 Protein_kinase_ATP_BS
     IPR000998 MAM_dom
     IPR026830 ALK
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q9UM73

    ProtoNet protein and cluster: Q9UM73

    3 Blocks protein families:
    IPB002011 Receptor tyrosine kinase
    IPB002172 Low density lipoprotein-receptor
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: ALK_HUMAN, Q9UM73
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily
    Similarity: Contains 1 LDL-receptor class A domain
    Similarity: Contains 2 MAM domains
    Similarity: Contains 1 protein kinase domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ALK_HUMAN, Q9UM73
    Function: Neuronal orphan receptor tyrosine kinase that is essentially and transiently expressed in specific regions of
    the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the
    nervous system. Transduces signals from ligands at the cell surface, through specific activation of the
    mitogen-activated protein kinase (MAPK) pathway. Phosphorylates almost exclusively at the first tyrosine of the
    Y-x-x-x-Y-Y motif. Following activation by ligand, ALK induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1,
    as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Acts as a receptor for ligands pleiotrophin (PTN), a secreted
    growth factor, and midkine (MDK), a PTN-related factor, thus participating in PTN and MDK signal transduction.
    PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation
    of cell proliferation. MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1),
    activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction.
    Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase. Recruitment
    of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival
    signaling of MDK
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Activated by ligand-binding and subsequent phosphorylation. Inactivated through dephosphorylation by
    receptor protein tyrosine phosphatase beta and zeta complex (PTPRB/PTPRZ1) when there is no stimulation by a ligand.
    Staurosporine, crizotinib and CH5424802 act as inhibitors of ALK kinase activity

         Genatlas biochemistry entry for ALK:
    anaplastic (CD30 + large cell) lymphoma kinase playing an important role in brain development,involved in anaplastic
    nodal non Hodgkin lymphoma or Hodgkin disease with translocation t(2;5)(p23;q35) or inv2(23;q35),see NPM1

    Enzyme Number (IUBMB): EC 2.7.10.11 2

    miRNA
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    hsa-miR-1271 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidALK 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004704NF-kappaB-inducing kinase activity TAS19459784
    GO:0004714transmembrane receptor protein tyrosine kinase activity TAS19459784
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--


    ALK for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ALK:
     Decreased substrate adherent c 

    Animal Models:
         Mouse knock-out Alktm1Lex for ALK
         1 MGI phenotypic allele for Alk (no phenotypes)

    ALK for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1GPCR Pathway
    GPCR Pathway1.00
    Estrogen Pathway0.55
    Ras Pathway0.62
    Pancreatic Adenocarcinoma0.55
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.53
    NFAT in Immune Response0.58
    P2Y Receptor Signaling0.38
    2Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51
    3Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency1.00
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    4Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex1.00
    CDC42 Pathway0.34
    Actin Nucleation and Branching0.66
    5Akt Signaling
    Akt Signaling1.00
    p38 Signaling0.60

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/29 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ALK (see all 29)
        MAPK Signaling
    Paxillin Interactions
    Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling

    1 Cell Signaling Technology (CST) Pathway for ALK
        Tyrosine Kinases / Adaptors



    ALK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALK

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

    5/55 Interacting proteins for ALK (Q9UM731, 2, 3 ENSP000003737004) via UniProtKB, MINT, STRING, and/or I2D (see all 55)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAV3Q9UKW42, 3, ENSP000003590734MINT-8030831 I2D: score=1 STRING: ENSP00000359073
    MAP3K3Q997592, 3MINT-48477 I2D: score=2 
    PTPRZ1P234712, 3, ENSP000003770474MINT-8238486 MINT-8238512 I2D: score=2 STRING: ENSP00000377047
    PLCG1P191743, ENSP000002440074I2D: score=2 STRING: ENSP00000244007
    PTNP212463, ENSP000003411704I2D: score=2 STRING: ENSP00000341170
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity TAS19459784
    GO:0007165signal transduction TAS19459784
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway IEA--
    GO:0008283cell proliferation TAS19459784
    GO:0016310phosphorylation TAS19459784


    ALK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALK

    2 HMDB Compounds for ALK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    10/13 Novoseek chemical compound relationships for ALK gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    [alcl] 97.9 273 18549625 (6), 15713979 (5), 16114011 (5), 15291103 (4) (see all 86)
    cltc 90.3 15 17656252 (3), 12920229 (2), 12800156 (1), 11485898 (1) (see all 7)
    tyrosine 67.9 167 17681947 (4), 15226403 (4), 15938644 (3), 9174053 (3) (see all 82)
    n-ipa 59.5 5 12748172 (3), 16009132 (1), 16258267 (1)
    17-(allylamino)-17-demethoxygeldanamycin 35.9 4 17157164 (2), 11888936 (1)
    paraffin 24.3 5 19147828 (1), 12594387 (1), 14626344 (1)
    phosphatidylinositol 10.9 1 11278720 (1)
    doxorubicin 10.3 2 14657946 (1), 17157164 (1)
    phosphotyrosine 7.79 4 18083107 (1), 14626344 (1), 17274988 (1)
    alanine 0 3 1354511 (1), 16249437 (1), 18421281 (1)

    1 PharmGKB related drug/compound annotation for ALK gene
    Drug/compound PharmGKB Annotation
    crizotinibDL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about ALK 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ALK gene: 
    NM_004304.4  

    Unigene Cluster for ALK:

    Anaplastic lymphoma receptor tyrosine kinase
    Hs.654469  [show with all ESTs]
    Unigene Representative Sequence: NM_004304
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000389048(uc010ymo.2 uc002rmy.3) ENST00000453137 ENST00000498037
    ENST00000431873

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    Additional cDNA sequence: 

    AB209477.4 AB600939.1 AB663645.1 AK296218.1 BX648960.1 FJ838786.1 FJ838787.1 GU797894.1 
    HQ993071.1 JQ828841.1 U62540.1 U66559.1 

    3 DOTS entries:

    DT.87014966  DT.101966450  DT.120998959 

    12 AceView cDNA sequences:

    BG211498 BX283500 BV183407 BQ448051 BE206076 AA309216 BE019506 BF306767 
    U66559 U62540 NM_004304 AF362886 

    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

    ALK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ALK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALK

    SOURCE GeneReport for Unigene cluster: Hs.654469

    UniProtKB/Swiss-Prot: ALK_HUMAN, Q9UM73
    Tissue specificity: Expressed in brain and CNS. Also expressed in the small intestine and testis, but not in normal
    lymphoid cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including ALK: 
              Neurogenesis in human mouse rat
              Lymphoma in human mouse rat

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    In Situ
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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 ALK gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ALK1 anaplastic lymphoma receptor tyrosine kinase 72.31(n)
    74.32(a)
      421297  XM_419364.3  XP_419364.3 
    lizard
    (Anolis carolinensis)
    Reptilia ALK6
    --
    73(a)
    1 ↔ 1
    1(248598457-248757216)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.302582 Xenopus laevis transcribed sequence with weak similarity more 75.6(n)    BG345730.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ltk1 leukocyte tyrosine kinase 55.94(n)
    51.96(a)
      564470  NM_001006660.1  NP_001006661.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Alk1 , 3 protein amino acid phosphorylation protein
    tyrosine more3
    Alk1
    33(a)3
    46.72(n)1
    38.07(a)1
      53C103
    534251  NM_144343.21  NP_652600.11 
    worm
    (Caenorhabditis elegans)
    Secernentea scd-23 protein kinase 41(a)
    (best of 3)
      V(6635869-6642021)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALK gene
    INSR2  ROR12  ROS12  NTRK22  LTK2  IGF1R2  DDR12  NTRK32  
    ROR22  INSRR2  DDR22  MUSK2  NTRK12  
    18/50 SIMAP similar genes for ALK using alignment to 30 protein entries:     ALK_HUMAN (see all proteins) (see all similar genes):
    DCTN1/ALK fusion    EML4-ALK variant 7    KIF5B-ALK    EML4-ALK    PPFIBP1-ALK    SQSTM1-ALK
    EML4/ALK fusion    TFG/ALK fusion    EML4-ALK variant 6    EPHA4    tec    BTK
    LTK    FLT4    MET    ABL1    BTK kinase deficient isoform 6    DKFZp434L0319

    ALK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/14440 NCBI SNPs in ALK are shown (see all 14440    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139940901,2
    C,pathogenic29187373(-) CTCGAC/TCATCA 2 T I mis10--------
    rs1139940871,2
    Cother29173700(-) GGCCCA/GAGACA 2 Q R mis10--------
    rs1139940891,2
    Cother29184708(-) GCCCCC/GGTTCA 2 P R mis10--------
    rs1139940911,2
    Cother29186339(-) CCAGAC/TGCTGC 2 T M mis10--------
    rs1139940881,2
    Cother29186516(-) CTTTGC/GGGAGG 2 A G mis10--------
    rs1429670871,2
    Cother29239122(+) TCAAAA/C/GAGGTT 3 L syn11NA 4550
    rs746692151,2
    C,F,--29156985(+) AGGTTG/AGCACA 1 -- ut311Minor allele frequency- A:0.07WA 118
    rs1825610501,2
    C,--29157037(+) AGCCAC/TTGCCT 1 -- ut310--------
    rs800883781,2
    C,F,--29157047(+) TCTCTC/GTCCTC 1 -- ut314Minor allele frequency- G:0.06WA CSA NA 242
    rs767281081,2
    --29157910(+) ACCAGG/TATTTA 1 -- int12Minor allele frequency- T:0.09CSA WA 120

    HapMap Linkage Disequilibrium report for ALK (29415640 - 29665640 bp, first 250kb of ALK)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 21 variations for ALK
         15/17 CNVs (see all 17): 9925 3348 67336 67323 89546 1569 32289 50458 89547 38895 89548 50459 8366 89545 2374
         4 Indels: 10880 41743 60292 60291
    Human Gene Mutation Database (HGMD): ALK

    5/10 SABiosciences Cancer Mutation PCR Assays for ALK (see all 10):
    Cosmic IdAA Change
    28498p.I1171N
    28499p.F1245V
    28500p.F1245C
    28491p.F1174I
    28495p.T1211T
    5 SABiosciences Cancer Mutation PCR Arrays containing ALK:
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Oncogene and Tumor Suppressor Panel 384HT
    Lung and Colon Cancers (Expanded Panel) 384HT   
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing ALK:
    Oncogenes & Tumor Suppressor Genes 384HC
    Kinases & Phosphatases
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALK
    DNA2.0 Custom Variant and Variant Library Synthesis for ALK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ALK for disorders           About GeneDecksing

    OMIM gene information: 105590   
    OMIM disorders: 613014  
    UniProtKB/Swiss-Prot: ALK_HUMAN, Q9UM73
  • Note=A chromosomal aberration involving ALK is found in a form of non-Hodgkin lymphoma. Translocation
  • t(2;5)(p23;q35) with NPM1. The resulting chimeric NPM1-ALK protein homodimerize and the kinase becomes constitutively
    activated. The constitutively active fusion proteins are responsible for 5-10% of non-Hodgkin lymphomas
  • Note=A chromosomal aberration involving ALK is associated with inflammatory myofibroblastic tumors (IMTs).
  • Translocation t(2;11)(p23;p15) with CARS; translocation t(2;4)(p23;q21) with SEC31A
  • Note=A chromosomal aberration involving ALK is associated with anaplastic large-cell lymphoma (ALCL).
  • Translocation t(2;17)(p23;q25) with ALO17
  • Defects in ALK are the cause of susceptibility to neuroblastoma type 3 (NBLST3) [MIM:613014]. Neuroblastoma is
  • a common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise
    to the adrenal medulla and the sympathetic nervous system
  • Note=The ALK signaling pathway plays an important role in glioblastoma, the most common malignant brain tumor
  • of adults and one of the most lethal cancers. It regulates both glioblastoma migration and growth

    20/62 diseases for ALK (see all 62):    About MalaCards
    anaplastic large cell lymphoma    lymphomatoid papulosis    kyasanur forest disease    neuroblastoma
    malignant fibrous histiocytoma    lung cancer    fibrous histiocytoma    diffuse large b-cell lymphoma
    alk+ histiocytosis    follicular dendritic cell tumor    non-small cell lung carcinoma    b-cell lymphomas
    inflammatory myofibroblastic tumor    non-hodgkin lymphoma    soft tissue sarcoma    histiocytoma
    burkitt's lymphoma    tracheal lymphoma    neuroblastoma, susceptibility    peripheral t-cell lymphoma

    5 diseases from the University of Copenhagen DISEASES database for ALK:
    Lymphoma     Reticulosarcoma     Lung cancer     Neuroblastoma
    Carcinoma

    10/49 Novoseek disease relationships for ALK gene (see all 49)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaplastic large cell lymphoma 97.8 225 8866227 (2), 11215285 (2), 16434370 (2), 19135051 (2) (see all 99)
    lymphoma large cell 90.5 73 10886208 (2), 20227918 (2), 17332315 (2), 16189272 (2) (see all 35)
    lymphoma 89.9 830 19386350 (9), 9415224 (7), 7655001 (5), 10994999 (4) (see all 99)
    lymphomatoid papulosis 84.4 10 9415224 (2), 9638979 (1), 9250148 (1), 17325487 (1) (see all 5)
    lymphoma t-cell peripheral 80.5 1 9736036 (1)
    hodgkin disease 72.3 14 20227918 (2), 11697652 (2), 9638979 (1), 9490693 (1) (see all 10)
    lymphoma non-hodgkins 71.2 22 9174053 (2), 15938644 (1), 9121481 (1), 17694547 (1) (see all 12)
    lymphoma b-cell 71 40 17509395 (2), 18220322 (2), 10886208 (2), 12750159 (2) (see all 19)
    pseudotumor inflammatory 65 4 11395553 (3)
    lymphoma t-cell 64.8 15 16170336 (2), 11781220 (1), 12213716 (1), 18670314 (1) (see all 10)

    Genatlas disease: ALK
    nodal and extranodal,CD30+,anaplastic large-cell non Hodgkin's lymphoma,Hodgkin disease with translocation
    t(2;5)(p23;q35),infalmmatory myofibroblastic tumors

    Human Genome Epidemiology (HuGE) Navigator: ALK (14 documents)
    Tumor Gene Database (TGDB): ALK

    Export disorders for ALK 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 ALK gene, integrated from 9 sources (see all 573):
    (articles sorted by number of sources associating them with ALK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. (PubMed id 8122112)1, 2, 3, 9 Morris S.W.... Look A.T. (1994)
    2. Anaplastic lymphoma kinase is activated through the pleiotrophin/receptor protein-tyrosine phosphatase beta/zeta signaling pathway: an alternative mechanism of receptor tyrosine kinase activation. (PubMed id 17681947)1, 2, 9 Perez-Pinera P....Deuel T.F. (2007)
    3. Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity. (PubMed id 15938644)1, 2, 9 Donella-Deana A.... Pinna L.A. (2005)
    4. Molecular characterization of ALK, a receptor tyrosine kinase expressed specifically in the nervous system. (PubMed id 9053841)1, 2, 9 Iwahara T.... Yamamoto T. (1997)
    5. Identification of ALK as a major familial neuroblastoma predisposition gene. (PubMed id 18724359)1, 2, 9 Mosse Y.P....Maris J.M. (2008)
    6. Activating mutations in ALK provide a therapeutic target in neuroblastoma. (PubMed id 18923525)1, 2, 9 George R.E....Look A.T. (2008)
    7. Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor. (PubMed id 16161041)1, 2, 9 Panagopoulos I.... Mandahl N. (2006)
    8. Midkine binds to anaplastic lymphoma kinase (ALK) and acts as a growth factor for different cell types. (PubMed id 12122009)1, 2, 9 Stoica G.E....Wellstein A. (2002)
    9. ALK receptor tyrosine kinase promotes cell growth and neurite outgrowth. (PubMed id 15226403)1, 2, 9 Motegi A....Yamamoto T. (2004)
    10. Pleiotrophin signaling through anaplastic lymphoma kinase is rate-limiting for glioblastoma growth. (PubMed id 11809760)1, 2, 9 Powers C....Wellstein A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (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: 238 HGNC: 427 AceView: ALK Ensembl:ENSG00000171094 euGenes: HUgn238
    ECgene: ALK H-InvDB: ALK

    (According to HUGE)
    About This Section
      --

    (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 ALK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALK Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALK

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

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



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    About This Section

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