ALK Gene (Protein Coding)

ALK Receptor Tyrosine Kinase

GC02M029190
GIFtS:
52
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... See more...

Aliases for ALK Gene

Aliases for ALK Gene

  • ALK Receptor Tyrosine Kinase 2 3 5
  • Anaplastic Lymphoma Receptor Tyrosine Kinase 2 3
  • ALK Tyrosine Kinase Receptor 3 4
  • CD246 Antigen 3 4
  • EC 2.7.10.1 4 50
  • CD246 2 3
  • Anaplastic Lymphoma Kinase (Ki-1) 2
  • Mutant Anaplastic Lymphoma Kinase 3
  • Anaplastic Lymphoma Kinase 4
  • NBLST3 3
  • ALK 5

External Ids for ALK Gene

Previous GeneCards Identifiers for ALK Gene

  • GC02M029337
  • GC02M029508
  • GC02M029390
  • GC02M029327
  • GC02M029269
  • GC02M029156

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]

CIViC Summary for ALK Gene

  • ALK amplifications, fusions and mutations have been shown to be driving events in non-small cell lung cancer. While crizontinib has demonstrated efficacy in treating the amplification, mutations in ALK have been shown to confer resistance to current tyrosine kinase inhibitors. Second-generation TKI's have seen varied success in treating these resistant cases, and the HSP90 inhibitor 17-AAG has been shown to be cytostatic in ALK-altered cell lines.

GeneCards Summary for ALK Gene

ALK (ALK Receptor Tyrosine Kinase) is a Protein Coding gene. Diseases associated with ALK include Neuroblastoma 3 and Neuroblastoma. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Akt Signaling. Gene Ontology (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 Summary 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. Thinness gene involved in the resistance to weight gain: in hypothalamic neurons, controls energy expenditure acting as a negative regulator of white adipose tissue lipolysis and sympathetic tone to fine-tune energy homeostasis (By similarity).

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

Additional gene information for ALK Gene

No data available for Rfam classification and piRNA Summary for ALK Gene

Genomics for ALK Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ALK Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J030145 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.1 -226.4 -226357 5.7 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC JUND POLR2A CEBPA ZNF10 YPEL5 ENSG00000233862 LOC101929418 lnc-LBH-5 ALK LBH piR-58639
GH02J029919 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.7 +0.3 288 2.2 EZH2 REST SIN3A SP2 GABPB1 ZNF2 EHMT2 MXD3 TAF1 NRF1 ALK ENSG00000197644 ENSG00000288553 CLIP4
GH02J029613 Enhancer 0.6 FANTOM5 Ensembl 58.7 +307.5 307536 0.3 GATA2 POLR2A CHD2 SMC3 ALK ENSG00000197644 HSALNG0013934 lnc-CLIP4-2 CLIP4
GH02J029918 Promoter/Enhancer 0.5 FANTOM5 Ensembl 60.9 +2.5 2514 1.5 ALK ENSG00000230737 ENSG00000197644 ENSG00000288553 CLIP4
GH02J029528 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 23.4 +392.5 392493 2.6 MAFK BHLHE40 ZBTB17 CREB1 FOS ZNF335 ALK HSALNG0013932 piR-37026-330 CLIP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALK

Top Transcription factor binding sites by QIAGEN in the ALK gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • CUTL1
  • Nkx2-5
  • p53
  • STAT3

Genomic Locations for ALK Gene

Latest Assembly
chr2:29,190,992-29,921,589
(GRCh38/hg38)
Size:
730,598 bases
Orientation:
Minus strand

Previous Assembly
chr2:29,415,640-30,144,452
(GRCh37/hg19 by Entrez Gene)
Size:
728,813 bases
Orientation:
Minus strand

chr2:29,415,640-30,144,432
(GRCh37/hg19 by Ensembl)
Size:
728,793 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 Structure • Gene Density

RefSeq DNA sequence for ALK Gene

Proteins for ALK Gene

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  • 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 (PubMed:16317043). Interacts with CBL, IRS1, PIK3R1 and PLCG1 (PubMed:15226403). Interacts with FRS2 and SHC1 (PubMed:17274988, PubMed:16878150, PubMed:15226403). Interacts with PTN and MDK (PubMed:12122009, PubMed:11278720).
    SequenceCaution:
    • Sequence=BAD92714.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALK Gene

neXtProt entry for ALK Gene

Protein Expression for ALK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ALK Gene

Q9UM73:
  • KIGDFGMARDIY
  • QDELDFLMEALIISKF
  • YILVGQQG
  • WEIFSLG
  • CPGPVYRIMTQCWQH

Post-translational modifications for ALK Gene

  • 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.
  • N-glycosylated.
  • Glycosylation at Asn169, Asn244, Asn285, Asn324, Asn411, Asn424, Asn445, Asn563, Asn571, Asn627, Asn709, Asn808, Asn863, Asn864, Asn886, and Asn986
  • Modification sites at PhosphoSitePlus

Other Protein References for ALK Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ALK

Domains & Families for ALK Gene

Gene Families for ALK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ALK Gene

InterPro:
Blocks:
  • Tyrosine protein kinase, active site
  • Low density lipoprotein-receptor, class A
  • Receptor tyrosine kinase, class II

Suggested Antigen Peptide Sequences for ALK Gene

GenScript: Design optimal peptide antigens:
  • Anaplastic lymphoma kinase (ALK_HUMAN)
  • Anaplastic lymphoma kinase (B2MXD7_HUMAN)
  • Anaplastic lymphoma kinase (B2MXD8_HUMAN)
  • Anaplastic lymphoma kinase (B2MXD9_HUMAN)
  • Anaplastic lymphoma kinase (B2MXE0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UM73

UniProtKB/Swiss-Prot:

ALK_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
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

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  1. Animal Models for research
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  6. Cell Lines for research

Molecular function for ALK Gene

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. Thinness gene involved in the resistance to weight gain: in hypothalamic neurons, controls energy expenditure acting as a negative regulator of white adipose tissue lipolysis and sympathetic tone to fine-tune energy homeostasis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028};.
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.
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

Enzyme Numbers (IUBMB) for ALK Gene

Phenotypes From GWAS Catalog for ALK Gene

Gene Ontology (GO) - Molecular Function for ALK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004704 NF-kappaB-inducing kinase activity TAS 19459784
GO:0004713 protein tyrosine kinase activity IEA,IDA 9174053
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA,TAS 19459784
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:
  • Alk Alk<tm1.1Rhp>
  • Alk Alk<tm1Swm>

Animal Models for research

  • Taconic Biosciences Mouse Models for ALK

miRNA for ALK Gene

miRTarBase miRNAs that target ALK

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALK

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALK gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane IBA,TAS 19459784
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032991 protein-containing complex IDA 23382219
genes like me logo Genes that share ontologies with ALK: view

Pathways & Interactions for ALK Gene

PathCards logo

SuperPathways for ALK Gene

SuperPathway Contained pathways
1 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
2 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
3 Nanog in Mammalian ESC Pluripotency
GSK3 Signaling
.61
Nanog in Mammalian ESC Pluripotency
.61
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
4 Actin Nucleation by ARP-WASP Complex
Actin Nucleation and Branching
.66
Actin Nucleation by ARP-WASP Complex
.66
CDC42 Pathway
.41
5 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
Activation of PKA through GPCR
.71
genes like me logo Genes that share pathways with ALK: view

Pathways by source for ALK Gene

1 BioSystems pathway for ALK Gene
29 Qiagen pathways for ALK Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
1 Cell Signaling Technology pathway for ALK Gene

SIGNOR curated interactions for ALK Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for ALK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA,TAS 19459784
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IEA,TAS 19459784
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA,IBA 21873635
GO:0007275 multicellular organism development IBA 21873635
genes like me logo Genes that share ontologies with ALK: view

Drugs & Compounds for ALK Gene

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(84) Drugs for ALK Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Crizotinib Approved Pharma Target, inhibitor, Inhibition, Biomarker C-MET/ALK inhibitor,potent and ATP-competitve, Potent c-MET/ALK inhibitor, cMET Inhibitors, Kinase Inhibitors, Anaplastic lymphoma kinase (ALK) inhibitor 146
Ceritinib Approved Pharma Target, antagonist 49
alectinib Approved, Investigational Pharma Target, inhibitor 0
brigatinib Approved, Investigational Pharma Target, inhibitor 0
lorlatinib Approved, Investigational Pharma Target, inhibitor 0

(10) Additional Compounds for ALK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0

(3) Tocris Compounds for ALK Gene

Compound Action Cas Number
ASP 3026 Potent anaplastic lymphoma kinase (ALK) inhibitor; also potent ACK inhibitor 1097917-15-1
Crizotinib Potent c-MET/ALK inhibitor 877399-52-5
KRCA 0008 Potent Ack1 and ALK dual inhibitor; orally bioavailable 1472795-20-2

(20) ApexBio Compounds for ALK Gene

Compound Action Cas Number
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
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 for research

Transcripts for ALK Gene

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mRNA/cDNA for ALK Gene

2 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALK

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

No ASD Table

Relevant External Links for ALK Gene

GeneLoc Exon Structure for
ALK

Expression for ALK Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALK Gene

mRNA expression in normal human tissues for ALK Gene
mRNA expression by BioGPS for ALK GenemRNA expression by GTEx 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 and MOPED for ALK Gene



Protein tissue co-expression partners for ALK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ALK Gene

  • Nervous system(4.6)
  • Blood(3.3)
  • Intestine(2.9)
  • Lymph node(2.7)
  • Bone marrow(2.7)
  • Lung(2.7)
  • Skin(2.6)
  • Liver(2.6)
  • Pancreas(2.5)
  • Muscle(2.5)
  • Kidney(2.4)
  • Adrenal gland(2.4)
  • Heart(2.4)
  • Thyroid gland(2.4)
  • Spleen(2.3)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ALK: view

Primer products for research

Orthologs for ALK Gene

This gene was present in the common ancestor of animals.

Orthologs for ALK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ALK 29 30
  • 97.77 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ALK 30
  • 90 (a)
 OneToOne
LOC536642 29
  • 87.89 (n)
Dog
(Canis familiaris)
 Mammalia ALK 29 30
  • 89.8 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Alk 29
  • 85.27 (n)
Mouse
(Mus musculus)
 Mammalia Alk 29 16 30
  • 84.79 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ALK 30
  • 81 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ALK 30
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ALK 29 30
  • 72.08 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ALK 30
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100495071 29
  • 64.46 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.30258 29
Zebrafish
(Danio rerio)
 Actinopterygii alk 29 30
  • 61.65 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Alk 30 31
  • 25 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea F09A5.2 31
  • 34 (a)
T25B9.5 31
  • 28 (a)
scd-2 30 31
  • 20 (a)
 OneToMany
Species where no ortholog for ALK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ALK: view image
Alliance of Genome Resources:
Additional Orthologs for ALK

Paralogs for ALK Gene

Paralogs for ALK Gene

(51) SIMAP similar genes for ALK Gene using alignment to 30 proteins:

  • ALK_HUMAN
  • B2MXD7_HUMAN
  • B2MXD8_HUMAN
  • B2MXD9_HUMAN
  • B2MXE0_HUMAN
  • B2MXE1_HUMAN
  • B2MXE2_HUMAN
  • B2MXE3_HUMAN
  • B2MXE4_HUMAN
  • B2MXE5_HUMAN
  • B2MXE6_HUMAN
  • B2MXE7_HUMAN
  • B6D4Y1_HUMAN
  • B6D4Y2_HUMAN
  • B6D4Y3_HUMAN
  • B6D4Y5_HUMAN
  • B6D4Y6_HUMAN
  • B6D4Y7_HUMAN
  • B6D4Y8_HUMAN
  • D1MAM0_HUMAN
  • D1MAM1_HUMAN
  • D1MAM2_HUMAN
  • D1MAM3_HUMAN
  • D1MAM4_HUMAN
  • D1MAM5_HUMAN
  • E7EPW7_HUMAN
  • F0UY65_HUMAN
  • F0UY66_HUMAN
  • H7BZ33_HUMAN
  • Q580I3_HUMAN
genes like me logo Genes that share paralogs with ALK: view

Variants for ALK Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALK Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1000122 Uncertain Significance: Neuroblastoma 3 29,193,438(-) A/G
NM_004304.5(ALK):c.4649T>C (p.Leu1550Pro) 		MISSENSE
1000590 Uncertain Significance: Neuroblastoma 3 29,251,180(-) A/C
NM_004304.5(ALK):c.2129T>G (p.Leu710Arg) 		MISSENSE
1000602 Uncertain Significance: Neuroblastoma 3 29,193,516(-) T/C
NM_004304.5(ALK):c.4571A>G (p.Lys1524Arg) 		MISSENSE
1000849 Uncertain Significance: Neuroblastoma 3 29,223,441(-) G/C
NM_004304.5(ALK):c.3260C>G (p.Thr1087Ser) 		MISSENSE
1000852 Uncertain Significance: Neuroblastoma 3 29,225,479(-) A/C
NM_004304.5(ALK):c.3154T>G (p.Phe1052Val) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ALK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ALK Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ALK Gene

MalaCards: The human disease database

(120) MalaCards diseases for ALK Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
neuroblastoma 3
  • neuroblastoma, susceptibility to, 3
neuroblastoma
  • nb
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
alk-positive anaplastic large cell lymphoma
  • alk+ alcl
alk-positive large b-cell lymphoma
  • alk+ lbcl
- 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
  • 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.
  • 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, ECO:0000269 PubMed:21242967}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • 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.
  • 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}.

Genatlas disease for ALK Gene

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

Additional Disease Information for ALK

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ALK: view

Publications for ALK Gene

  1. Identification of ALK as a major familial neuroblastoma predisposition gene. (PMID: 18724359) Mossé YP ā€¦ Maris JM (Nature 2008) 3 4 22 72
  2. Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. (PMID: 18923523) Janoueix-Lerosey I ā€¦ Delattre O (Nature 2008) 3 4 22 72
  3. Activating mutations in ALK provide a therapeutic target in neuroblastoma. (PMID: 18923525) George RE ā€¦ Look AT (Nature 2008) 3 4 22 72
  4. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. (PMID: 8122112) Morris SW ā€¦ Look AT (Science (New York, N.Y.) 1994) 2 3 4 22
  5. CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant. (PMID: 21575866) Sakamoto H ā€¦ Aoki Y (Cancer cell 2011) 3 4 72

ExternalLinks

View latest publications for ALK gene in Mastermind

Products for ALK Gene

  • Addgene plasmids for ALK

Sources for ALK Gene