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    ALK anaplastic lymphoma receptor tyrosine kinase [ Homo sapiens ]

    Gene ID: 238, updated on 20-May-2012
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    Summary

    Official Symbol
    ALKprovided by HGNC
    Official Full Name
    anaplastic lymphoma receptor tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:427
    See related
    Ensembl:ENSG00000171094; HPRD:00104; MIM:105590; Vega:OTTHUMG00000152034
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD246; NBLST3
    Summary
    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]
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    Genomic context

    Location :
    2p23
    Sequence :
    Chromosome: 2; NC_000002.11 (29415640..30144477, complement)
    See ALK in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 71 Neighboring gene CAP-GLY domain containing linker protein family, member 4 Neighboring gene yippee-like 5 (Drosophila) Neighboring gene limb bud and heart development homolog (mouse)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Crizotinib and testing for ALK. Shaw AT, et al. J Natl Compr Canc Netw, 2011 Dec. PMID 22157554.
    2. Worse disease-free survival in never-smokers with ALK+ lung adenocarcinoma. Yang P, et al. J Thorac Oncol, 2012 Jan. PMID 22134072.
    3. EML4-ALK translocation predicts better outcome in lung adenocarcinoma patients with wild-type EGFR. Wu SG, et al. J Thorac Oncol, 2012 Jan. PMID 22124476.
    4. Copy number status and mutation analyses of anaplastic lymphoma kinase (ALK) gene in 90 sporadic neuroblastoma tumors. Bagci O, et al. Cancer Lett, 2012 Apr 1. PMID 22085494.
    5. Identification of genes upregulated in ALK-positive and EGFR/KRAS/ALK-negative lung adenocarcinomas. Okayama H, et al. Cancer Res, 2012 Jan 1. PMID 22080568.

    See all (185) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. ALK gene rearrangement is associated with lung adenocarcinomas.
      Title: Dual IHC and FISH testing for ALK gene rearrangement in lung adenocarcinomas in a routine practice: a French study.
    2. Neuroblastoma cell lines often express ALK at high levels.
      Title: Anaplastic lymphoma kinase (ALK) inhibitor response in neuroblastoma is highly correlated with ALK mutation status, ALK mRNA and protein levels.
    3. Echinoderm microtubule-associated protein like 4-ALK fusion gene is associated with longer overall survival of lung adenocarcinoma patients with wild-type epidermal growth factor receptor mutations.
      Title: EML4-ALK translocation predicts better outcome in lung adenocarcinoma patients with wild-type EGFR.
    4. An overview of the diagnostic assays available for detecting ALK rearrangement.
      Title: Crizotinib and testing for ALK.
    5. Our findings suggest that ALK positivity is associated with a significantly poor outcome in nonsmoking-related adenocarcinoma and that ALK-positive tumors may be associated with an increased risk of brain and liver metastases.
      Title: Worse disease-free survival in never-smokers with ALK+ lung adenocarcinoma.
    6. ALK gene rearrangement is associated with nonsmall cell lung cancer.
      Title: Distinct clinical features and outcomes in never-smokers with nonsmall cell lung cancer who harbor EGFR or KRAS mutations or ALK rearrangement.
    7. study reports a novel syndromic presentation associating congenital Neuroblastoma with severe encephalopathy nnd abnormal shape of the brainstem on brain MRI in two unrelated sporadic cases harboring de novo, germline, heterozygous ALK gene mutations
      Title: Germline gain-of-function mutations of ALK disrupt central nervous system development.
    8. The frequency of ALK mutations in neuroblastoma is low and solitary copy number change of it is rarely observed.
      Title: Copy number status and mutation analyses of anaplastic lymphoma kinase (ALK) gene in 90 sporadic neuroblastoma tumors.
    9. We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 neuroblastoma specimens examined
      Title: Oncogenic anaplastic lymphoma kinase (ALK) mutation in neuroblastomas and other pediatric tumors.
    10. findings are important because they provide a molecular basis of ALK-positive lung adenocarcinomas and triple-negative lung adenocarcinomas and further stratify more or less aggressive subgroups of triple-negative lung ADC
      Title: Identification of genes upregulated in ALK-positive and EGFR/KRAS/ALK-negative lung adenocarcinomas.
    Submit: New GeneRIF Correction See all (157)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Neuroblastoma, susceptibility to

    Neuroblastoma, susceptibility to, 3

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UM73 Q9UM73 ALK    HPRD  PubMed  
    Q9UM73 P35568 IRS1    HPRD  PubMed  
    Q9UM73 P52333 JAK3    HPRD  PubMed  
    Q9UM73 P21741 MDK    HPRD  PubMed  
    Q9UM73 P06748 NPM1    HPRD  PubMed  
    Q9UM73 P19174 PLCG1    HPRD  PubMed  
    Q9UM73 P21246 PTN    HPRD  PubMed  
    Q9UM73 P23471 PTPRZ1    HPRD  PubMed  
    Q9UM73 P29353 SHC1    HPRD  PubMed  
    Q9UM73 Q92529 SHC3    HPRD  PubMed  
    Q9UM73 P28908 TNFRSF8    HPRD  PubMed  
    BioGRID:106739 BioGRID:114176 CDK13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:107492 CENPF    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:119132 DYT10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:108291 EIF4B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:108355 EPHA1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106739 BioGRID:108362 EPHB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:108853 GAK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106739 BioGRID:109561 HSPD1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106739 BioGRID:114089 IKBKG    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106739 BioGRID:109873 IRF7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:109874 IRS1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106739 BioGRID:114048 IRS4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:109920 JAK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:109921 JAK3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106739 BioGRID:110073 KRT18    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:125727 KRT74    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:111595 MAP2K7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:110378 MAP3K1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106739 BioGRID:110380 MAP3K4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:110381 MAP3K5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:111580 MAPK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:116774 MAPK8IP3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:110388 MEP1B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:110625 MTIF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:110692 MYBPC3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:110722 MYLK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:109860 PDX1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:111309 PIK3CB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:111346 PLCB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:111351 PLCG1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106739 BioGRID:111731 PTN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106739 BioGRID:116211 RAB35    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:111821 RAD17    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:112361 SHC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106739 BioGRID:119752 SHC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106739 BioGRID:122802 SMC6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:114203 SOCS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:115013 SOCS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:112651 STAT3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106739 BioGRID:119748 UBASH3A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106739 BioGRID:119592 ZC3HC1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NF-kappaB-inducing kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transmembrane receptor protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    NIK/NF-kappaB cascade TAS
    Traceable Author Statement
    more info
    		 PubMed 
    activation of MAPK activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    neuron development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    phosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    positive regulation of NF-kappaB transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein autophosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    transmembrane receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    integral to plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    ALK tyrosine kinase receptor
    Names
    ALK tyrosine kinase receptor
    CD246 antigen
    mutant anaplastic lymphoma kinase
    NP_004295.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009445.1 RefSeqGene

      Range
      4956..733793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004304.4 → NP_004295.2  ALK tyrosine kinase receptor precursor

      Status: REVIEWED

      Source sequence(s)
      DA455128, EU788004, U62540
      Consensus CDS
      CCDS33172.1
      UniProtKB/TrEMBL
      B6D4Y2
      UniProtKB/Swiss-Prot
      Q9UM73
      Related
      ENSP00000373700, OTTHUMP00000201048, ENST00000389048, OTTHUMT00000324994
      Conserved Domains (3) summary
      cd06263
      Location:480 – 631
      Blast Score: 254
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      cd05036
      Location:1109 – 1385
      Blast Score: 1539
      PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase
      pfam07714
      Location:1116 – 1383
      Blast Score: 1017
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      29415640..30144477, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      29156646..29883927, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC074096.8 AAY15027.1
    genomic AC093756.3 AAX88892.1
    genomic AC098874.6 AAX76514.1
    genomic AC106870.4 AAX93126.1
    genomic AC106899.5 None
    genomic CH471053.2 EAX00506.1
      EAX00507.1
      EAX00508.1
    genomic GM868985.1 CAT16962.1
    mRNA AB209477.4 BAD92714.1
    mRNA AB374361.1 BAG55003.1
    mRNA AB374362.1 BAG55004.1
    mRNA AK296218.1 BAG58942.1
    mRNA DA455128.1 None
    mRNA EU788003.1 ACI47591.1
    mRNA EU788004.1 ACI47592.1
    mRNA EU788005.1 ACI47593.1
    mRNA EU788006.1 ACI47594.1
    mRNA EU788007.1 ACI47595.1
    mRNA EU788008.1 ACI47596.1
    mRNA EU788009.1 ACI47597.1
    mRNA EU788010.1 ACI47598.1
    mRNA FJ838786.1 ACZ57900.1
    mRNA FJ838787.1 ACZ57901.1
    mRNA GU128152.1 ACY79560.1
    mRNA GU128153.1 ACY79561.1
    mRNA GU128154.1 ACY79562.1
    mRNA GU128155.1 ACY79563.1
    mRNA GU128156.1 ACY79564.1
    mRNA GU128157.1 ACY79565.1
    mRNA U62540.1 AAB71619.1
    mRNA U66559.1 AAC51104.1
    other-genetic BC156207.1 AAI56208.1
    other-genetic BC157090.1 AAI57091.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q580I3 GenPept UniProtKB/TrEMBL:Q580I3
    Q9UM73.3 GenPept UniProtKB/Swiss-Prot:Q9UM73
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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