ALK ALK receptor tyrosine kinase
Gene ID: 238, updated on 18-Sep-2024Gene type: protein coding
Also known as: ALK1; CD246; NBLST3
- See all available tests in GTR for this gene
- Go to complete Gene record for ALK
- Go to Variation Viewer for ALK variants
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. 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).[provided by RefSeq, Jan 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neuroblastoma, susceptibility to, 3 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2019-12-20) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2019-12-20) ClinGen Genome Curation Page |
Genomic context
- Location:
- 2p23.2-p23.1
- Sequence:
- Chromosome: 2; NC_000002.12 (29192774..29921586, complement)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALK variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALK database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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