ALK
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ALK (HGNC:427) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ALK receptor tyrosine kinase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CD246, ALK1
%HI
4.47(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.56(Read more about gnomAD LOEUF score)
Cytoband
2p23.2-p23.1
Genomic Coordinates
GRCh37/hg19: chr2:29415640-30144452 NCBI Ensembl UCSC
GRCh38/hg38: chr2:29192774-29921586 NCBI Ensembl UCSC
MANE Select Transcript
NM_004304.5 ENST00000389048.8 (Read more about MANE Select)
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:11121404, PubMed:11387242, PubMed:16317043, PubMed:17274988, PubMed:30061385, PubMed:34646012, PubMed:34819673). Also acts as a key thinness protein involved in the resistance to weight gain: in hypothalamic neurons, controls energy expenditure acting as a nega... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17711
ClinGen Curation ID:
CCID:006656
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
12/20/2019

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Germline, gain of function mutations in ALK result in neuroblastic tumor susceptibility (Mosse et al. 2018, 18724359), via constitutive phosphorylation, consistent with activation and resulting in profound growth inhibition. Mutations are mainly located in the tyrosine kinase domain and explain the majority of hereditary neuroblastomas. A germline intragenic deletion in ALK was found in a patient with meduloblastoma (Coco et al 2012) but parental studies were not available and expression studies in the tumor showed normal ALK mRNA expression, so its role is currently unclear.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At this time there is no evidence to support the triplosensitivity of this gene. While a constitutional microduplication of 2p involving the ALK and MYCN genes has been described, duplication of MYCN without ALK has been seen with the same phenotype, indicating that duplications of ALK are not causing the phenotype (Van Mater et al. 2013, PMID 23401364)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)