ALK (ALK receptor tyrosine kinase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 238
Gene name ALK receptor tyrosine kinase
Gene symbol ALK
Synonyms (NCBI Gene)
ALK1CD246NBLST3
Chromosome 2
Chromosome location 2p23.2-p23.1
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
SNPs SNP information provided by dbSNP.
26
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs76150405 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant, genic downstream transcript variant
rs113994087 C>A,T Likely-pathogenic, pathogenic, risk-factor Missense variant, coding sequence variant, genic downstream transcript variant
rs113994088 C>G Likely-pathogenic, pathogenic, risk-factor Missense variant, coding sequence variant, genic downstream transcript variant
rs113994089 C>G,T Likely-pathogenic, uncertain-significance, pathogenic, risk-factor Missense variant, coding sequence variant, genic downstream transcript variant
rs113994091 G>A,C Uncertain-significance, pathogenic, risk-factor Missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT021811 hsa-miR-132-3p Microarray 17612493
MIRT053181 hsa-miR-96-5p Luciferase reporter assayqRT-PCRWestern blot 22414602
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
PHOX2B Activation 20957039
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IDA 9174053
GO:0004713 Function Protein tyrosine kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
105590 427 ENSG00000171094
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UM73
Protein name ALK tyrosine kinase receptor (EC 2.7.10.1) (Anaplastic lymphoma kinase) (CD antigen CD246)
Protein 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 (PubMed:111214
PDB 2KUP , 2KUQ , 2XB7 , 2XBA , 2XP2 , 2YFX , 2YHV , 2YJR , 2YJS , 2YS5 , 2YT2 , 3AOX , 3L9P , 3LCS , 3LCT , 4ANL , 4ANQ , 4ANS , 4CCB , 4CCU , 4CD0 , 4CLI , 4CLJ , 4CMO , 4CMT , 4CMU , 4CNH , 4CTB , 4CTC , 4DCE , 4FNW , 4FNX , 4FNY , 4FNZ , 4FOB , 4FOC , 4FOD , 4JOA , 4MKC , 4TT7 , 4Z55 , 5A9U , 5AA8 , 5AA9 , 5AAA , 5AAB , 5AAC , 5FTO , 5FTQ , 5IMX , 5IUG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00629 MAM 266 → 426 MAM domain, meprin/A5/mu Domain
PF00629 MAM 480 → 635 MAM domain, meprin/A5/mu Domain
PF12810 Gly_rich 726 → 987 Family
PF07714 PK_Tyr_Ser-Thr 1116 → 1383 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and CNS. Also expressed in the small intestine and testis, but not in normal lymphoid cells. {ECO:0000269|PubMed:9174053}.
Sequence 
MGAIGLLWLLPLLLSTAAVGSGMGTGQRAGSPAAGPPLQPREPLSYSRLQRKSLAVDFVV
PSLFRVYARDLLLPPSSSELKAGRPEARGSLALDCAPLLRLLGPAPGVSWTAGSPAPAEA
RTLSRVLKGGSVRKLRRAKQLVLELGEEAILEGCVGPPGEAAVGLLQFNLSELFSWWIRQ
GEGRLRIRLMPEKKASEVGREGRLSAAIRASQPRLLFQIFGTGHSSLESPTNMPSPSPDY
FTWNLTWIMKDSFPFLSHRSRYGLECSFDFPCELEYSPPLHDLRNQSWSWRRIPSEEASQ
MDLLDGPGAERSKEMPRGSFLLLNTSADSKHTILSPWMRSSSEHCTLAVSVHRHLQPSGR
YIAQLLPHNEAAREILLMPTPGKHGWTVLQGRIGRPDNPFRVALEYISSGNRSLSAVDFF
ALKNCSEGTSPGSKMALQSSFTCWNGTVLQLGQACDFHQDCAQGEDESQMCRKLPVGFYC
NFEDGFCGWTQGTLSPHTPQWQVRTLKDARFQDHQDHALLLSTTDVPASESATVTSATFP
APIKSSPCELRMSWLIRGVLRGNVSLVLVENKTGKEQGRMVWHVAAYEGLSLWQWMVLPL
LDVSDRFWLQMVAWWGQGSRAIVAFDNISISLDCYLTISGEDKILQNTAPKSRNLFERNP
NKELKPGENSPRQTPIFDPTVHWLFTTCGASGPHGPTQAQCNNAYQNSNLSVEVGSEGPL
KGIQIWKVPATDTYSISGYGAAGGKGGKNTMMRSHGVSVLGIFNLEKDDMLYILVGQQGE
DACPSTNQLIQKVCIGENNVIEEEIRVNRSVHEWAGGGGGGGGATYVFKMKDGVPVPLII
AAGGGGRAYGAKTDTFHPERLENNSSVLGLNGNSGAAGGGGGWNDNTSLLWAGKSLQEGA
TGGHSCPQAMKKWGWETRGGFGGGGGGCSSGGGGGGYIGGNAASNNDPEMDGEDGVSFIS
PLGILYTPALKVMEGHGEVNIKHYLNCSHCEVDECHMDPESHKVICFCDHGTVLAEDGVS
CIVSPTPEPHLPLSLILSVVTSALVAALVLAFSGIMIVYRRKHQELQAMQMELQSPEYKL
SKLRTSTIMTDYNPNYCFAGKTSSISDLKEVPRKNITLIRGLGHGAFGEVYEGQVSGMPN
DPSPLQVAVKTLPEVCSEQDELDFLMEALIISKFNHQNIVRCIGVSLQSLPRFILLELMA
GGDLKSFLRETRPRPSQPSSLAMLDLLHVARDIACGCQYLEENHFIHRDIAARNCLLTCP
GPGRVAKIGDFGMARDIYRASYYRKGGCAMLPVKWMPPEAFMEGIFTSKTDTWSFGVLLW
EIFSLGYMPYPSKSNQEVLEFVTSGGRMDPPKNCPGPVYRIMTQCWQHQPEDRPNFAIIL
ERIEYCTQDPDVINTALPIEYGPLVEEEEKVPVRPKDPEGVPPLLVSQQAKREEERSPAA
PPPLPTTSSGKAAKKPTAAEISVRVPRGPAVEGGHVNMAFSQSNPPSELHKVHGSRNKPT
SLWNPTYGSWFTEKPTKKNNPIAKKEPHDRGNLGLEGSCTVPPNVATGRLPGASLLLEPS
SLTANMKEVPLFRLRHFPCGNVNYGYQQQGLPLEAATAPGAGHYEDTILKSKNSMNQPGP
Sequence length 1620
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Pathways in cancer
Non-small cell lung cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALK-related disorder Likely pathogenic rs1057519697 RCV003401411
Hereditary cancer-predisposing syndrome Pathogenic rs113994087 RCV002354167
Lung cancer Likely pathogenic rs2148166660, rs1057519784 RCV002283356
RCV002282133
Neoplasm Pathogenic rs281864719 RCV006273629
Show/Hide Unknown Diseases (24)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs35228363 RCV005889452
Cholangiocarcinoma Benign rs1625283 RCV005904339
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs12151564 RCV005904336
Clear cell carcinoma of kidney Benign; Likely benign rs35228363 RCV005889453
Show/Hide Text Mining Associations (257)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormal Karyotype Associate 21076462
Acquired Immunodeficiency Syndrome Associate 31570354
Acute Kidney Injury Associate 32237210
Adenocarcinoma Associate 20009909, 20624322, 20979469, 21062932, 21358343, 22071784, 22323876, 22569898, 22768234, 23119115, 23196793, 23379755, 23407557, 23449277, 23551194
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Adenocarcinoma Bronchiolo Alveolar Associate 22296236, 32991441
Adenocarcinoma Clear Cell Associate 24389164
Adenocarcinoma Follicular Associate 27283500
Adenocarcinoma in Situ Associate 36325966
Adenocarcinoma Mucinous Associate 23617234, 25813151, 29199692, 35645113, 36823653
Adenocarcinoma of Lung Associate 20179225, 20624322, 20855837, 21107285, 21656749, 21921848, 22071784, 22100693, 22135231, 22140546, 22317764, 22605530, 22743652, 22975805, 23289484
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