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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)