Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

ALK

Gene Alias

CD246, Ki-1, TFG/ALK

Gene Description

anaplastic lymphoma receptor tyrosine kinase

Omim ID

Gene Ontology

Gene Summary

The 2;5 chromosomal translocation is frequently associated with anaplastic large cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2, is fused to the 5' portion of NPM from chromosome 5. A recent study shows that the product of the NPM-ALK fusion gene is oncogenic. The deduced amino acid sequences reveal that ALK is a novel receptor protein-tyrosine kinase having a putative transmembrane domain and an extracellular domain. These sequences are absent in the product of the transforming NPM-ALK gene. ALK shows the greatest sequence similarity to LTK (leukocyte tyrosine kinase). ALK plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. [provided by RefSeq

Other Designations

ALK tyrosine kinase receptor|CD246 antigen|anaplastic lymphoma kinase (Ki-1)|anaplastic lymphoma kinase Ki-1

Entrez GeneID

Gene Name

VCL

Gene Alias

CMD1W, MVCL

Gene Description

vinculin

Omim ID

Gene Ontology

Gene Summary

Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq

Other Designations

OTTHUMP00000019861|OTTHUMP00000043885|metavinculin