Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol ALK
Synonyms ALK1 | CD246 | NBLST3
Gene Description ALK, anaplastic lymphoma kinase, is a receptor in the insulin receptor superfamily and is a key regulator of neuronal development (PMID: 21502284) and also promotes cell proliferation through activation of MAPK and PI3K signaling pathways (PMID: 27573755). Alk activating mutations, rearrangements, and fusions have been identified in various cancers (PMID: 22649787), including EML4-ALK in non-small cell lung cancer (PMID: 30108712, PMID: 30194140), and a number of mutations confer resistance in the context of Alk fusions (PMID: 25749034, PMID: 21948233).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
238 2 2p23.2-p23.1 NM_004304 Oncogene (PMID: 30606230)

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function ALK act mut indicates that this variant results in a gain of function in the Alk protein. However, the specific amino acid change has not been identified.
D1203fs frameshift loss of function - predicted ALK D1203fs results in a change in the amino acid sequence of the Alk protein beginning at aa 1203 of 1620, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the ATP binding site (UniProt.org), D1203fs is predicted to lead to a loss of Alk protein function.
D1249fs frameshift loss of function - predicted ALK D1249fs results in a change in the amino acid sequence of the Alk protein beginning at aa 1249 of 1620, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the ATP binding site (UniProt.org), D1249fs is predicted to lead to a loss of Alk protein function.
F1174X missense unknown ALK F1174X indicates any Alk missense mutation that results in replacement of the phenylalanine (F) at amino acid 1174 by a different amino acid.
F1245X missense unknown ALK F1245X indicates any Alk missense mutation that results in replacement of the phenylalanine (F) at amino acid 1245 by a different amino acid.
fusion fusion unknown ALK fusion indicates a fusion of the ALK gene, but the fusion partner is unknown.
G1202X missense unknown ALK G1202X indicates any ALK missense mutation that results in replacement of the glycine (G) at amino acid 1202 by a different amino acid.
I1171X missense unknown ALK I1171X indicates any Alk missense mutation that results in replacement of the isoleucine (I) at amino acid 1171 by a different amino acid.
inact mut unknown loss of function ALK inact mut indicates that this variant results in a loss of function of the Alk protein. However, the specific amino acid change has not been identified.
L1196X missense unknown ALK L1196X indicates any Alk missense mutation that results in replacement of the leucine (L) at amino acid 1196 by a different amino acid.
L1198X missense unknown ALK L1198X indicates any Alk missense mutation that results in replacement of the leucine (L) at amino acid 1198 by a different amino acid.
mutant unknown unknown ALK mutant indicates an unspecified mutation in the ALK gene.
R1275X missense unknown ALK R1275X indicates any Alk missense mutation that results in replacement of the arginine (R) at amino acid 1275 by a different amino acid.
rearrange unknown unknown ALK rearrangement indicates an unspecified rearrangement of the ALK gene.
V1180X missense unknown ALK V1180X indicates any Alk missense mutation that results in replacement of the valine (V) at amino acid 1180 by a different amino acid.