Gene Gene information from NCBI Gene database.
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
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
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
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
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.
MIM HGNC e!Ensembl
105590 427 ENSG00000171094
Protein Protein information from UniProt database.
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
ALKNCS
EGTSPGSKMALQSSFTCWNGTVLQLGQACDFHQDCAQGEDESQMCRKLPVGFYC
NFEDGFCGWTQGTLSPHTPQWQVRTLKDARFQDHQDHALLLSTTDVPASESATVTSATFP
APIKSSPCELRMSWLIRGVLRGNVSLVLVENKTGKEQGRMVWHVAAYEGLSLWQWMVLPL
LDVSDRFWLQMVAWWGQGSRAIVAFDNISISLDCY
LTISGEDKILQNTAPKSRNLFERNP
NKELKPGENSPRQTPIFDPTVHWLFTTCGASGPHGPTQAQCNNAYQNSNLSVEVGSEGPL
KGIQIWKVPATDTYSISGYGAAGGKGGKNTMMRSHGVSVLGIFNLEKDDMLYILVGQQGE
DACPSTNQLIQKVCIGENNVIEEEIRVNRSVHEWAGGGGGGGGATYVFKMKDGVPVPLII
AAGGGGRAYGAKTDTFHPERLENNSSVLGLNGNSGAAGGGGGWNDNTSLLWAGKSLQEGA
TGGHSCPQAMKKWGWETRGGFGGGGGGCSSGGGGGGYIGGNAASNNDPEMDGEDGVSFIS
PLGILYTPALKVMEGHGEVNIKHYLNC
SHCEVDECHMDPESHKVICFCDHGTVLAEDGVS
CIVSPTPEPHLPLSLILSVVTSALVAALVLAFSGIMIVYRRKHQELQAMQMELQSPEYKL
SKLRTSTIMTDYNPNYCFAGKTSSISDLKEVPRKNITLIRGLGHGAFGEVYEGQVSGMPN
DPSPLQVAVKTLPEVCSEQDELDFLMEALIISKFNHQNIVRCIGVSLQSLPRFILLELMA
GGDLKSFLRETRPRPSQPSSLAMLDLLHVARDIACGCQYLEENHFIHRDIAARNCLLTCP
GPGRVAKIGDFGMARDIYRASYYRKGGCAMLPVKWMPPEAFMEGIFTSKTDTWSFGVLLW
EIFSLGYMPYPSKSNQEVLEFVTSGGRMDPPKNCPGPVYRIMTQCWQHQPEDRPNFAIIL
ERI
EYCTQDPDVINTALPIEYGPLVEEEEKVPVRPKDPEGVPPLLVSQQAKREEERSPAA
PPPLPTTSSGKAAKKPTAAEISVRVPRGPAVEGGHVNMAFSQSNPPSELHKVHGSRNKPT
SLWNPTYGSWFTEKPTKKNNPIAKKEPHDRGNLGLEGSCTVPPNVATGRLPGASLLLEPS
SLTANMKEVPLFRLRHFPCGNVNYGYQQQGLPLEAATAPGAGHYEDTILKSKNSMNQPGP
Sequence length 1620
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
62
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ALK-related disorder Likely pathogenic rs1057519697 RCV003401411
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome Pathogenic rs113994087 RCV002354167
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer Likely pathogenic rs2148166660, rs1057519784 RCV002283356
RCV002282133
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Pathogenic rs281864719 RCV006273629
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 17392503
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 25695223
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 11488062
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16127683
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 24613277
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 22845480
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18166835, 18320074, 18594010, 19170230, 19386350, 20009909, 20031962, 20130484, 20183914, 20624322, 20659620, 20926401, 20979469, 21036415, 21233671
View all (131 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18923524
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 24992173, 26172300, 26933125
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 18923524, 19234440, 19383809, 19749796, 20179225, 20624322, 20659620, 20855837, 21036415, 21107285, 21129606, 21160078, 21656749, 21847362, 21855164
View all (237 more)
★☆☆☆☆
Found in Text Mining only