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Aliases for ALK Gene

Aliases for ALK Gene

  • Anaplastic Lymphoma Receptor Tyrosine Kinase 2 3 5
  • CD246 Antigen 3 4
  • EC 2.7.10.1 4 61
  • Anaplastic Lymphoma Kinase (Ki-1) 2
  • Mutant Anaplastic Lymphoma Kinase 3
  • ALK Tyrosine Kinase Receptor 3
  • Anaplastic Lymphoma Kinase 4
  • NBLST3 3
  • CD246 3

External Ids for ALK Gene

Previous GeneCards Identifiers for ALK Gene

  • GC02M029337
  • GC02M029508
  • GC02M029390
  • GC02M029327
  • GC02M029269

Summaries for ALK Gene

Entrez Gene Summary for ALK Gene

  • 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]

GeneCards Summary for ALK Gene

ALK (Anaplastic Lymphoma Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with ALK include Neuroblastoma 3 and Inflammatory Myofibroblastic Tumor. Among its related pathways are p70S6K Signaling and GPCR Pathway. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is LTK.

UniProtKB/Swiss-Prot for ALK Gene

  • Neuronal 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.

Tocris Summary for ALK Gene

  • Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase (RTK) that was first identified in anaplastic large cell lymphoma (ALCL) as part of the fusion protein NPM-ALK. ALK has been implicated in the pathogenesis of many types of cancer.

Gene Wiki entry for ALK Gene

PharmGKB "VIP" Summary for ALK Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for ALK Gene

Genomics for ALK Gene

Regulatory Elements for ALK Gene

Enhancers for ALK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ALK on UCSC Golden Path with GeneCards custom track

Promoters for ALK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ALK Gene

Chromosome:
2
Start:
29,192,774 bp from pter
End:
29,921,611 bp from pter
Size:
728,838 bases
Orientation:
Minus strand

Genomic View for ALK Gene

Genes around ALK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALK Gene

Proteins for ALK Gene

  • Protein details for ALK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM73-ALK_HUMAN
    Recommended name:
    ALK tyrosine kinase receptor
    Protein Accession:
    Q9UM73
    Secondary Accessions:
    • Q4ZFX9
    • Q53QQ6
    • Q53RZ4
    • Q59FI3
    • Q9Y4K6

    Protein attributes for ALK Gene

    Size:
    1620 amino acids
    Molecular mass:
    176442 Da
    Quaternary structure:
    • Homodimer. Homodimerizes when bound to ligand. Interacts with FRS2, IRS1, MDK, PTN and SHC1. Interacts with CBL, PIK3R1 and PLCG1 (By similarity).
    SequenceCaution:
    • Sequence=BAD92714.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALK Gene

neXtProt entry for ALK Gene

Selected DME Specific Peptides for ALK Gene

Post-translational modifications for ALK Gene

  • N-glycosylated.
  • 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 autoactivation. Phosphorylation at Tyr-1507 is critical for SHC1 association.
  • Glycosylation at Asn 169, Asn 244, Asn 285, Asn 324, Asn 411, Asn 424, Asn 445, Asn 563, Asn 571, Asn 627, Asn 709, Asn 808, Asn 863, Asn 864, Asn 886, and Asn 986
  • Modification sites at PhosphoSitePlus

Other Protein References for ALK Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ALK (ALK)

Domains & Families for ALK Gene

Graphical View of Domain Structure for InterPro Entry

Q9UM73

UniProtKB/Swiss-Prot:

ALK_HUMAN :
  • Contains 1 LDL-receptor class A domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Domain:
  • Contains 1 LDL-receptor class A domain.
  • Contains 2 MAM domains.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with ALK: view

Function for ALK Gene

Molecular function for ALK Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot Function:
Neuronal 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.

Enzyme Numbers (IUBMB) for ALK Gene

Gene Ontology (GO) - Molecular Function for ALK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004704 NF-kappaB-inducing kinase activity TAS 19459784
GO:0004713 protein tyrosine kinase activity IDA 9174053
GO:0004714 transmembrane receptor protein tyrosine kinase activity TAS 19459784
GO:0005515 protein binding IPI 17681947
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ALK: view
genes like me logo Genes that share phenotypes with ALK: view

Human Phenotype Ontology for ALK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALK Gene

MGI Knock Outs for ALK:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALK

CRISPR Products

miRNA for ALK Gene

miRTarBase miRNAs that target ALK

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ALK

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ALK Gene

Localization for ALK Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALK Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALK Gene COMPARTMENTS Subcellular localization image for ALK gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ALK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005887 integral component of plasma membrane TAS 19459784
GO:0043234 protein complex IDA 23382219
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ALK: view

Pathways & Interactions for ALK Gene

genes like me logo Genes that share pathways with ALK: view

Pathways by source for ALK Gene

SIGNOR curated interactions for ALK Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ALK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS 19459784
GO:0007165 signal transduction TAS 19459784
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007399 nervous system development IEA --
GO:0008283 cell proliferation TAS 19459784
genes like me logo Genes that share ontologies with ALK: view

Drugs & Compounds for ALK Gene

(51) Drugs for ALK Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ceritinib Approved Pharma Target, antagonist 36
Crizotinib Approved Pharma Inhibition, Biomarker, inhibitor, Target C-MET/ALK inhibitor,potent and ATP-competitve, cMET Inhibitors, Kinase Inhibitors, Anaplastic lymphoma kinase (ALK) inhibitor, Potent c-MET/ALK inhibitor 97
alectinib Approved Pharma Target, inhibitor 0
Adenosine triphosphate Approved Nutra Target 0
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 1938

(29) Additional Compounds for ALK Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
PF 06463922
1454846-35-5

(1) Tocris Compounds for ALK Gene

Compound Action Cas Number
PF 06463922 High affinity and selective ALK and ROS1 inhibitor 1454846-35-5

(22) ApexBio Compounds for ALK Gene

Compound Action Cas Number
ALK inhibitor 1 ALK inhibitor, novel and selective 761436-81-1
ALK inhibitor 2 ALK inhibitor, novel and selective 761438-38-4
AP26113 Anaplastic lymphoma kinase (ALK) inhibitor 1197958-12-5
ASP3026 ALK inhibitor,potent and selective 1097917-15-1
AZD-3463 ALK/IGF1R inhibitor 1356962-20-3
CEP-37440 FAK/ALK inhibitor,potent and selective 1391712-60-9
CH5424802 ALK inhibitor,potent and ATP-competitive 1256580-46-7
Crizotinib hydrochloride 1415560-69-8
Dovitinib (TKI-258, CHIR-258) Multitargeted RTK inhibitor 405169-16-6
Entrectinib Orally active inhibitor of ALK kinase 1108743-60-7
GSK1838705A IGF-IR/IR/ALK inhibitor, ATP-competitive 1116235-97-2
HG-14-10-04 1356962-34-9
K02288 ALK inhibitor 1431985-92-0
KRCA 0008 1472795-20-2
LDK378 Potent ALK inhibitor 1032900-25-6
LDK378 dihydrochloride ALK inhibitor 1380575-43-8
LDN-193189 ALK inhibitor,potent and selective 1062368-24-4
LDN193189 Hydrochloride ALK inhibitor,potent and selective 1062368-62-0
LDN-214117 1627503-67-6
PF-06463922 1454846-35-5
SB 431542 ALK inhibitor 301836-41-9
TAE684 (NVP-TAE684) ALK inhibitor,potent and selective 761439-42-3
genes like me logo Genes that share compounds with ALK: view

Drug Products

Transcripts for ALK Gene

mRNA/cDNA for ALK Gene

(1) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALK Gene

Anaplastic lymphoma receptor tyrosine kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ALK

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALK Gene

No ASD Table

Relevant External Links for ALK Gene

GeneLoc Exon Structure for
ALK
ECgene alternative splicing isoforms for
ALK

Expression for ALK Gene

mRNA expression in normal human tissues for ALK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALK Gene

This gene is overexpressed in Pituitary (x6.4) and Brain - Hypothalamus (x5.3).

Protein differential expression in normal tissues from HIPED for ALK Gene

This gene is overexpressed in Fetal Brain (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ALK Gene



Protein tissue co-expression partners for ALK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALK Gene:

ALK

SOURCE GeneReport for Unigene cluster for ALK Gene:

Hs.654469

mRNA Expression by UniProt/SwissProt for ALK Gene:

Q9UM73-ALK_HUMAN
Tissue specificity: Expressed in brain and CNS. Also expressed in the small intestine and testis, but not in normal lymphoid cells.
genes like me logo Genes that share expression patterns with ALK: view

Primer Products

Orthologs for ALK Gene

This gene was present in the common ancestor of animals.

Orthologs for ALK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC536642 34
  • 87.89 (n)
  • 90.61 (a)
ALK 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALK 34
  • 89.8 (n)
  • 92.51 (a)
ALK 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alk 34
  • 84.79 (n)
  • 88.38 (a)
Alk 16
Alk 35
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALK 34
  • 97.77 (n)
  • 96.99 (a)
ALK 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alk 34
  • 85.27 (n)
  • 88.88 (a)
oppossum
(Monodelphis domestica)
Mammalia ALK 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALK 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALK 34
  • 72.08 (n)
  • 74.25 (a)
ALK 35
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALK 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495071 34
  • 64.46 (n)
  • 62.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30258 34
zebrafish
(Danio rerio)
Actinopterygii alk 34
  • 61.65 (n)
  • 60.57 (a)
alk 35
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Alk 36
  • 33 (a)
Alk 35
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F09A5.2 36
  • 34 (a)
scd-2 36
  • 41 (a)
T25B9.5 36
  • 28 (a)
scd-2 35
  • 20 (a)
OneToMany
Species where no ortholog for ALK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALK Gene

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

Paralogs for ALK Gene

Paralogs for ALK Gene

genes like me logo Genes that share paralogs with ALK: view

Variants for ALK Gene

Sequence variations from dbSNP and Humsavar for ALK Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1670283 - 29,193,706(+) AGAGA(C/T)CTCTG reference, missense
rs1881420 - 29,193,615(-) GCACA(A/G)GGTCC reference, missense
rs1881421 - 29,193,500(-) CACGA(C/G)AGGGG reference, missense
rs34617074 - 29,920,391(+) CTAGC(A/G)AGCCG reference, missense
rs55697431 - 29,920,173(+) CCCCA(A/C)AGCCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALK Gene

Variant ID Type Subtype PubMed ID
dgv1107e212 CNV loss 25503493
dgv1108e212 CNV loss 25503493
dgv680e214 CNV loss 21293372
dgv681e214 CNV loss 21293372
dgv682e214 CNV loss 21293372
esv1191389 CNV insertion 17803354
esv1273908 CNV deletion 17803354
esv23879 CNV loss 19812545
esv2421745 CNV deletion 20811451
esv2663423 CNV deletion 23128226
esv2667588 CNV deletion 23128226
esv2671680 CNV deletion 23128226
esv2675184 CNV deletion 23128226
esv2678336 CNV deletion 23128226
esv2719856 CNV deletion 23290073
esv2719857 CNV deletion 23290073
esv2719858 CNV deletion 23290073
esv2759035 CNV gain 17122850
esv2760636 CNV loss 21179565
esv29115 CNV loss 19812545
esv3011087 CNV deletion 24192839
esv3305963 CNV mobile element insertion 20981092
esv3307072 CNV mobile element insertion 20981092
esv3328207 CNV insertion 20981092
esv3336141 CNV duplication 20981092
esv3374239 CNV duplication 20981092
esv3378708 CNV insertion 20981092
esv3389824 CNV insertion 20981092
esv3447793 CNV insertion 20981092
esv34904 CNV gain 17911159
esv3554322 CNV deletion 23714750
esv3575211 CNV gain 25503493
esv3583699 CNV loss 25503493
esv3583700 CNV loss 25503493
esv3583701 CNV loss 25503493
esv3583704 CNV loss 25503493
esv3590171 CNV gain 21293372
esv3590173 CNV loss 21293372
esv3590177 CNV gain 21293372
esv3590178 CNV loss 21293372
esv3590179 CNV loss 21293372
esv3590182 CNV loss 21293372
esv3590185 CNV loss 21293372
esv3590187 CNV gain 21293372
esv3590189 CNV loss 21293372
esv3590191 CNV loss 21293372
esv3891670 CNV loss 25118596
esv4149 CNV loss 18987735
esv8173 CNV gain 19470904
esv9363 CNV gain 19470904
esv990532 CNV insertion 20482838
nsv1002380 CNV gain 25217958
nsv1006359 CNV loss 25217958
nsv1008490 CNV gain 25217958
nsv1072402 CNV deletion 25765185
nsv1110737 CNV insertion 24896259
nsv1134846 CNV deletion 24896259
nsv1138762 CNV deletion 24896259
nsv1160582 CNV duplication 26073780
nsv2659 CNV insertion 18451855
nsv2660 CNV insertion 18451855
nsv2661 CNV deletion 18451855
nsv433197 CNV loss 18776910
nsv438237 CNV loss 16468122
nsv438248 CNV loss 16468122
nsv441750 CNV gain+loss 18776908
nsv455997 CNV loss 19166990
nsv456008 CNV loss 19166990
nsv471776 CNV loss 16327809
nsv475076 CNV novel sequence insertion 20440878
nsv514056 CNV loss 21397061
nsv515557 CNV loss 19592680
nsv524336 CNV loss 19592680
nsv525718 CNV loss 19592680
nsv581254 CNV loss 21841781
nsv581255 CNV loss 21841781
nsv581256 CNV loss 21841781
nsv817706 CNV loss 17921354
nsv833636 CNV gain 17160897
nsv9480 CNV loss 18304495
nsv955080 CNV deletion 24416366

Variation tolerance for ALK Gene

Residual Variation Intolerance Score: 2.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.41; 92.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALK Gene

Human Gene Mutation Database (HGMD)
ALK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALK Gene

Disorders for ALK Gene

MalaCards: The human disease database

(56) MalaCards diseases for ALK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuroblastoma 3
  • nblst3
inflammatory myofibroblastic tumor
  • inflammatory pseudotumor
alk-positive anaplastic large cell lymphoma
  • alk+ alcl
alk-positive large b-cell lymphoma
  • alk+ lbcl
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search ALK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALK_HUMAN
  • Neuroblastoma 3 (NBLST3) [MIM:613014]: 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. {ECO:0000269 PubMed:18724359, ECO:0000269 PubMed:18923523, ECO:0000269 PubMed:18923525}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving ALK is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALO17.
  • 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 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 found in one subject with colorectal cancer. Translocation t(2;2)(p23.1;p23.3). A 5 million base pair tandem duplication generates an in-frame WDCP-ALK gene fusion. {ECO:0000269 PubMed:22327622}.
  • 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.

Genatlas disease for ALK Gene

nodal and extranodal,CD30+,anaplastic large-cell non Hodgkins lymphoma,Hodgkin disease with translocation t(2;5)(p23;q35),infalmmatory myofibroblastic tumors

Relevant External Links for ALK

Genetic Association Database (GAD)
ALK
Human Genome Epidemiology (HuGE) Navigator
ALK
Tumor Gene Database (TGDB):
ALK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALK
genes like me logo Genes that share disorders with ALK: view

Publications for ALK Gene

  1. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. (PMID: 8122112) Morris S.W. … Look A.T. (Science 1994) 2 3 4 22 65
  2. Identification of ALK as a major familial neuroblastoma predisposition gene. (PMID: 18724359) Mosse Y.P. … Maris J.M. (Nature 2008) 3 4 22 65
  3. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. (PMID: 18923523) Janoueix-Lerosey I. … Delattre O. (Nature 2008) 3 4 22 65
  4. Activating mutations in ALK provide a therapeutic target in neuroblastoma. (PMID: 18923525) George R.E. … Look A.T. (Nature 2008) 3 4 22 65
  5. ALK activation induces Shc and FRS2 recruitment: Signaling and phenotypic outcomes in PC12 cells differentiation. (PMID: 17274988) Degoutin J. … Gouzi J.Y. (FEBS Lett. 2007) 3 4 22 65

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