• Gene id: 238

Gene Summary

• Gene Symbol: ALK   Gene   UCSC   Ensembl
• Aliases: CD246, NBLST3
• Gene name: ALK receptor tyrosine kinase
• Alternate names: ALK tyrosine kinase receptor, CD246 antigen, anaplastic lymphoma receptor tyrosine kinase, mutant anaplastic lymphoma kinase,
• Gene location: 2p23.2-p23.1 (29921588: 29190991)     Exons: 29     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 105590

SNPs

rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs267607227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

rs140132974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

Protein Summary

• Protein general information: Q9UM73  
  • Name: ALK tyrosine kinase receptor (EC 2.7.10.1) (Anaplastic lymphoma kinase) (CD antigen CD246)
  • Length: 1620  
  • Mass: 176442
  • Tissue specificity: Expressed in brain and CNS. Also expressed in the small intestine and testis, but not in normal lymphoid cells. {ECO
• Sequence:

  MGAIGLLWLLPLLLSTAAVGSGMGTGQRAGSPAAGPPLQPREPLSYSRLQRKSLAVDFVVPSLFRVYARDLLLPP
  SSSELKAGRPEARGSLALDCAPLLRLLGPAPGVSWTAGSPAPAEARTLSRVLKGGSVRKLRRAKQLVLELGEEAI
  LEGCVGPPGEAAVGLLQFNLSELFSWWIRQGEGRLRIRLMPEKKASEVGREGRLSAAIRASQPRLLFQIFGTGHS
  SLESPTNMPSPSPDYFTWNLTWIMKDSFPFLSHRSRYGLECSFDFPCELEYSPPLHDLRNQSWSWRRIPSEEASQ
  MDLLDGPGAERSKEMPRGSFLLLNTSADSKHTILSPWMRSSSEHCTLAVSVHRHLQPSGRYIAQLLPHNEAAREI
  LLMPTPGKHGWTVLQGRIGRPDNPFRVALEYISSGNRSLSAVDFFALKNCSEGTSPGSKMALQSSFTCWNGTVLQ
  LGQACDFHQDCAQGEDESQMCRKLPVGFYCNFEDGFCGWTQGTLSPHTPQWQVRTLKDARFQDHQDHALLLSTTD
  VPASESATVTSATFPAPIKSSPCELRMSWLIRGVLRGNVSLVLVENKTGKEQGRMVWHVAAYEGLSLWQWMVLPL
  LDVSDRFWLQMVAWWGQGSRAIVAFDNISISLDCYLTISGEDKILQNTAPKSRNLFERNPNKELKPGENSPRQTP
  IFDPTVHWLFTTCGASGPHGPTQAQCNNAYQNSNLSVEVGSEGPLKGIQIWKVPATDTYSISGYGAAGGKGGKNT
  MMRSHGVSVLGIFNLEKDDMLYILVGQQGEDACPSTNQLIQKVCIGENNVIEEEIRVNRSVHEWAGGGGGGGGAT
  YVFKMKDGVPVPLIIAAGGGGRAYGAKTDTFHPERLENNSSVLGLNGNSGAAGGGGGWNDNTSLLWAGKSLQEGA
  TGGHSCPQAMKKWGWETRGGFGGGGGGCSSGGGGGGYIGGNAASNNDPEMDGEDGVSFISPLGILYTPALKVMEG
  HGEVNIKHYLNCSHCEVDECHMDPESHKVICFCDHGTVLAEDGVSCIVSPTPEPHLPLSLILSVVTSALVAALVL
  AFSGIMIVYRRKHQELQAMQMELQSPEYKLSKLRTSTIMTDYNPNYCFAGKTSSISDLKEVPRKNITLIRGLGHG
  AFGEVYEGQVSGMPNDPSPLQVAVKTLPEVCSEQDELDFLMEALIISKFNHQNIVRCIGVSLQSLPRFILLELMA
  GGDLKSFLRETRPRPSQPSSLAMLDLLHVARDIACGCQYLEENHFIHRDIAARNCLLTCPGPGRVAKIGDFGMAR
  DIYRASYYRKGGCAMLPVKWMPPEAFMEGIFTSKTDTWSFGVLLWEIFSLGYMPYPSKSNQEVLEFVTSGGRMDP
  PKNCPGPVYRIMTQCWQHQPEDRPNFAIILERIEYCTQDPDVINTALPIEYGPLVEEEEKVPVRPKDPEGVPPLL
  VSQQAKREEERSPAAPPPLPTTSSGKAAKKPTAAEISVRVPRGPAVEGGHVNMAFSQSNPPSELHKVHGSRNKPT
  SLWNPTYGSWFTEKPTKKNNPIAKKEPHDRGNLGLEGSCTVPPNVATGRLPGASLLLEPSSLTANMKEVPLFRLR
  HFPCGNVNYGYQQQGLPLEAATAPGAGHYEDTILKSKNSMNQPGP

• Structural information:
  • Protein Domains: (264..42-)
    (/note="MAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00128-)
    (437..47-)
    A (/note="LDL-receptor-class)
    (478..63-)
    (/note="MAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00128-)
    (1116..139-)
    (/note="Protein-kina)
  • Interpro: IPR026830  IPR013320  IPR011009  IPR036055  IPR002172   IPR000998  IPR000719  IPR017441  IPR001245  IPR008266  IPR020635  IPR002011  
  • Prosite: PS50060 PS00107 PS50011 PS00109 PS00239
  • CDD: cd00112 cd06263
  • 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 5IUH 5IUI 5KZ0 5VZ5 6AT9 6CDT 6E0R 6EBW 6EDL 6MX8
  • PDBsum: 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 5IUH 5IUI 5KZ0 5VZ5 6AT9 6CDT 6E0R 6EBW 6EDL 6MX8
  • DIP: 5954
  • STRING: ENSP00000373700
• Other Databases: GeneCards:  ALK  Malacards:  ALK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA	molecular function
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0042127	regulation of cell population proliferation	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0045664	regulation of neuron differentiation	IBA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0046777	protein autophosphorylation	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	TAS	molecular function
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0048666	neuron development	TAS	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0004704	NF-kappaB-inducing kinase activity	TAS	molecular function
GO:1900006	positive regulation of dendrite development	ISS	biological process
GO:0000187	activation of MAPK activity	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900006	positive regulation of dendrite development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0036269	swimming behavior	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0090648	response to environmental enrichment	IEA	biological process
GO:0060159	regulation of dopamine receptor signaling pathway	IEA	biological process
GO:0030534	adult behavior	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0038061	NIK/NF-kappaB signaling	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0016310	phosphorylation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05223	Non-small cell lung cancer

Diseases

Associated diseases	References
Non-small cell lung cancer	KEGG:H00014
Peripheral T cell lymphoma	KEGG:H01892
Anaplastic large-cell lymphoma	KEGG:H01601
Non-small cell lung cancer	KEGG:H00014
Peripheral T cell lymphoma	KEGG:H01892
Anaplastic large-cell lymphoma	KEGG:H01601
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq