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    ALK ALK receptor tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 238, updated on 4-Jan-2025

    Summary

    Official Symbol
    ALKprovided by HGNC
    Official Full Name
    ALK receptor tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:427
    See related
    Ensembl:ENSG00000171094 MIM:105590; AllianceGenome:HGNC:427
    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
    ALK1; 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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALK in Genome Data Viewer
    Location:
    2p23.2-p23.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (29192774..29921586, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (29236229..29965553, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (29415640..30144452, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374386 Neighboring gene CLIP4 5' region CAGE-defined mid-level expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11320 Neighboring gene uncharacterized LOC124907747 Neighboring gene CAP-Gly domain containing linker protein family member 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:29474025-29474526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:29474527-29475026 Neighboring gene uncharacterized LOC101929386 Neighboring gene Sharpr-MPRA regulatory region 127 Neighboring gene uncharacterized LOC105374389 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:29729319-29729514 Neighboring gene Sharpr-MPRA regulatory region 9206 Neighboring gene NANOG hESC enhancer GRCh37_chr2:29827351-29827900 Neighboring gene RNA, 7SL, cytoplasmic 516, pseudogene Neighboring gene uncharacterized LOC124907748 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:30117944-30118493 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:30123496-30124120 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:30124121-30124745 Neighboring gene NANOG hESC enhancer GRCh37_chr2:30167172-30167673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30186510-30187010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30187011-30187511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30188897-30189398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30189399-30189898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:30248848-30249348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11323 Neighboring gene uncharacterized LOC105374414 Neighboring gene small nucleolar RNA, H/ACA box 10B Neighboring gene yippee like 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2019-12-20)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2019-12-20)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef and ALK show similar effects by increasing different cytokines/chemokines, such as IL-1beta, TNF-alpha, and RANTES, that may be relevant for HAD pathogenesis PubMed
    nef Overexpression of HIV-1 Nef and ALK effect gelatinase activation in astrocytic glioma cells PubMed
    nef HIV-1 Nef and ALK are capable of cumulatively influencing the MAP-K phosphorylation in astrocytic glioma cells PubMed
    nef HIV-1 Nef and anaplastic lymphoma kinase (ALK) do not physically interact but ALK expression is upregulated by Nef in astrocytic glioma cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 28
    Function Evidence Code Pubs
    enables ATP binding  
    enables GPI-linked ephrin receptor activity  
    enables boss receptor activity  
    enables brain-derived neurotrophic factor receptor activity  
    enables epidermal growth factor receptor activity  
    enables fibroblast growth factor receptor activity  
    enables heparin binding PubMed 
    enables hepatocyte growth factor receptor activity  
    enables histone H2AXY142 kinase activity  
    enables histone H3Y41 kinase activity  
    enables identical protein binding PubMed 
    enables insulin receptor activity  
    enables insulin-like growth factor receptor activity  
    enables macrophage colony-stimulating factor receptor activity  
    enables placental growth factor receptor activity  
    enables platelet-derived growth factor alpha-receptor activity  
    enables platelet-derived growth factor beta-receptor activity  
    enables protein binding PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase activity  
    enables protein tyrosine kinase collagen receptor activity  
    enables receptor signaling protein tyrosine kinase activator activity PubMed 
    enables stem cell factor receptor activity  
    enables transmembrane receptor protein tyrosine kinase activity  
    enables transmembrane receptor protein tyrosine kinase activity PubMed 
    enables transmembrane receptor protein tyrosine kinase activity PubMed 
    enables transmembrane-ephrin receptor activity  
    enables vascular endothelial growth factor receptor activity  
    Items 1 - 25 of 28
    Items 1 - 25 of 38
    Process Evidence Code Pubs
    involved_in Kit signaling pathway  
    involved_in adult behavior  
    involved_in brain-derived neurotrophic factor receptor signaling pathway  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway PubMed 
    involved_in chromatin remodeling  
    involved_in collagen-activated tyrosine kinase receptor signaling pathway  
    involved_in energy homeostasis  
    involved_in ephrin receptor signaling pathway  
    involved_in epidermal growth factor receptor signaling pathway  
    involved_in fibroblast growth factor receptor signaling pathway  
    involved_in hepatocyte growth factor receptor signaling pathway  
    involved_in hippocampus development  
    involved_in insulin receptor signaling pathway  
    involved_in insulin-like growth factor receptor signaling pathway  
    involved_in macrophage colony-stimulating factor signaling pathway  
    involved_in multicellular organism development  
    involved_in negative regulation of lipid catabolic process  
    involved_in neuron development PubMed 
    involved_in peptidyl-tyrosine autophosphorylation PubMed 
    involved_in phosphorylation PubMed 
    involved_in platelet-derived growth factor receptor-alpha signaling pathway  
    involved_in platelet-derived growth factor receptor-beta signaling pathway  
    involved_in positive regulation of NF-kappaB transcription factor activity PubMed 
    involved_in positive regulation of dendrite development  
    acts_upstream_of_or_within protein autophosphorylation PubMed 
    involved_in protein autophosphorylation PubMed 
    involved_in protein autophosphorylation PubMed 
    involved_in regulation of apoptotic process PubMed 
    involved_in regulation of cell population proliferation  
    involved_in regulation of dopamine receptor signaling pathway  
    involved_in regulation of neuron differentiation  
    involved_in response to environmental enrichment  
    involved_in response to stress  
    involved_in signal transduction PubMed 
    involved_in swimming behavior  
    involved_in vascular endothelial growth factor receptor-1 signaling pathway  
    involved_in vascular endothelial growth factor signaling pathway  
    Items 1 - 25 of 38
    Component Evidence Code Pubs
    located_in extracellular exosome PubMed 
    is_active_in plasma membrane  
    is_active_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    part_of protein-containing complex PubMed 
    part_of receptor complex  

    General protein information

    Preferred Names
    ALK tyrosine kinase receptor
    Names
    CD246 antigen
    anaplastic lymphoma receptor tyrosine kinase
    mutant anaplastic lymphoma kinase
    NP_001340694.1
    NP_004295.2
    XP_054197220.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_488

    mRNA and Protein(s)

    1. NM_001353765.2NP_001340694.1  ALK tyrosine kinase receptor isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. The promoter and 5' terminal exon sequence is from an endogenous retroviral LTR (PMID: 26444240). The resulting isoform (2, also known as ALKATI) is shorter and has a distinct N-terminus, compared to isoform 1. The encoded protein is expressed in melanoma cells.
      Source sequence(s)
      LN864494
      Consensus CDS
      CCDS86828.1
      UniProtKB/TrEMBL
      A0A0K2YUJ3
      Related
      ENSP00000493203.1, ENST00000642122.1
      Conserved Domains (1) summary
      cd05036
      Location:41317
      PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase
    2. NM_004304.5NP_004295.2  ALK tyrosine kinase receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_004295.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      DA455128, EU788004, U62540
      Consensus CDS
      CCDS33172.1
      UniProtKB/Swiss-Prot
      A6P4T4, A6P4V4, Q4ZFX9, Q53QQ6, Q53RZ4, Q59FI3, Q9UM73, Q9Y4K6
      UniProtKB/TrEMBL
      B6D4Y1, B6D4Y2, B6D4Y3, B6D4Y5, B6D4Y6, B6D4Y7, B6D4Y8, D1MAM0, D1MAM1, D1MAM2, D1MAM3, D1MAM4, D1MAM5, F0UY65, F0UY66
      Related
      ENSP00000373700.3, ENST00000389048.8
      Conserved Domains (6) summary
      cd06263
      Location:480631
      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 ...
      smart00192
      Location:441467
      LDLa; Low-density lipoprotein receptor domain class A
      cd05036
      Location:11091385
      PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase
      pfam00629
      Location:480636
      MAM; MAM domain, meprin/A5/mu
      pfam07714
      Location:11161383
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14670
      Location:9871021
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      29192774..29921586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001738688.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      29236229..29965553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341245.1XP_054197220.1  ALK tyrosine kinase receptor isoform X1

      UniProtKB/TrEMBL
      I1X3U7

    RNA

    1. XR_008486309.1 RNA Sequence

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