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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
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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)

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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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