Gene: ALK

Alternate names for this Gene: CD246|NBLST3

Gene 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).

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.2-p23.1

Description of this Gene: ALK receptor tyrosine kinase

Type of Gene: protein-coding

rs6731759 in ALK gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs6731759 in ALK gene and AIDS, PROGRESSION TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs1057519781 in ALK gene and Adenocarcinoma of lung (disorder) PMID 22277784 2012 Mechanisms of acquired crizotinib resistance in ALK-rearranged lung Cancers.

PMID 24670165 2014 Ceritinib in ALK-rearranged non-small-cell lung cancer.

PMID 24327273 2014 Furthermore, HSP90 inhibition, as well as the second-generation ALK inhibitor TAE684, demonstrated activity in newly developed lung adenocarcinoma models driven by crizotinib-insensitive EML4-ALK L1196M or F1174L.

PMID 24327273 2014 Furthermore, HSP90 inhibition, as well as the second-generation ALK inhibitor TAE684, demonstrated activity in newly developed lung adenocarcinoma models driven by crizotinib-insensitive EML4-ALK L1196M or F1174L.

rs113994087 in ALK gene and Brain Neoplasms PMID 22072639 2011 Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma.

rs187926838 in ALK gene and Cicatrix PMID 31066027 2019 Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.

rs80270335 in ALK gene and Dental caries PMID 31235808 2019 Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.

rs1406230 in ALK gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 31264924 2019 A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity.

rs187926838 in ALK gene and Drug Hypersensitivity Syndrome PMID 31066027 2019 Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.

rs11903143 in ALK gene and Granulocyte Colony Stimulating Factor Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs6731759 in ALK gene and HIV-1, RESISTANCE TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs6731759 in ALK gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.

rs1406230 in ALK gene and Maculopathy with diabetes mellitus PMID 31264924 2019 A genome-wide association study implicates that the TTC39C gene is associated with diabetic maculopathy with decreased visual acuity.

rs113994087 in ALK gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519697 in ALK gene and NEUROBLASTOMA, SUSCEPTIBILITY TO PMID 22072639 2011 Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma.

PMID 21838707 2011 Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 18923523 2008 Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

PMID 18724359 2008 Identification of ALK as a major familial neuroblastoma predisposition gene.

PMID 21242967 2011 The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking.

PMID 18923525 2008 Activating mutations in ALK provide a therapeutic target in neuroblastoma.

PMID 18990089 2008 High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours.

PMID 2124297 1990 Valproate-induced hepatoxicity: protective effect of L-carnitine supplementation.

PMID 21575866 2011 CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant.

PMID 21948233 2011 ALK mutations conferring differential resistance to structurally diverse ALK inhibitors.

rs1057520019 in ALK gene and NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 PMID 18923525 2008 Activating mutations in ALK provide a therapeutic target in neuroblastoma.

PMID 18724359 2008 Identification of ALK as a major familial neuroblastoma predisposition gene.

PMID 18923523 2008 Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

PMID 21242967 2011 The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking.

rs1057519696 in ALK gene and Rhabdomyosarcoma PMID 22184391 2012 Anaplastic lymphoma kinase aberrations in rhabdomyosarcoma: clinical and prognostic implications.

rs4146673 in ALK gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs187926838 in ALK gene and Severe cutaneous adverse reactions (SMQ) PMID 31066027 2019 Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.

rs2339469 in ALK gene and Systolic Pressure PMID 26969751 2016 International Genome-Wide Association Study Consortium Identifies Novel Loci Associated With Blood Pressure in Children and Adolescents.

rs6731759 in ALK gene and Viral Load result PMID 31219150 2019 Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial.