Anaplastic Lymphoma Kinase

Alternative Names

  • ALK
  • ALK/EML4 Fusion Gene
  • ALK/NPM1 Fusion Gene
  • ALK/RNF213 Fusion Gene
  • ALK/CARS Fusion Gene
  • ALK/CLTC Fusion Gene
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OMIM Number

105590

NCBI Gene ID

238

Uniprot ID

Q9UM73

Length

730,598 bases

No. of Exons

29

No. of isoforms

1

Protein Name

ALK tyrosine kinase receptor

Molecular Mass

176442 Da

Amino Acid Count

1620

Genomic Location

chr2:29,190,992-29,921,589

Gene Map Locus
2p23.2-p23.1

Description

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). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004304.5:c.4211T>CLebanonchr2:29193876Uncertain SignificanceBreast CancerNG_009445.1:g.732691T>C; NM_004304.5:c.4211T>C; NP_004295.2:p.Leu1404Pro377129811645717
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