ALK (ALK receptor tyrosine kinase)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
238
Gene name Gene Name - the full gene name approved by the HGNC.
ALK receptor tyrosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALK
Synonyms (NCBI Gene) Gene synonyms aliases
ALK1, CD246, NBLST3
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.2-p23.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT021811 hsa-miR-132-3p Microarray 17612493
MIRT053181 hsa-miR-96-5p Luciferase reporter assay, qRT-PCR, Western blot 22414602
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
PHOX2B Activation 20957039
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(57)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
105590 427 ENSG00000171094
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
lung cancer Lung cancer rs1057519784 N/A
Neuroblastoma Neuroblastoma, susceptibility to, 3, neuroblastoma rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs113994087, rs113994089, rs281864719, rs863225285 N/A
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Show/Hide Text Mining Associations (257)
Associations from Text Mining Disease 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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