NCIt definition : Human NKAIN2 wild-type allele is located in the vicinity of 6q21 and is approximately
1022 kb in length. This allele, which encodes sodium/potassium-transporting ATPase
subunit beta-1-interacting protein 2, may be involved in the modulation of ion transport.
Chromosomal rearrangements affecting the gene may be associated with epileptic encephalopathy
with spastic tetraparesis and severe psychomotor retardation associated with cerebral
atrophy, developmental delay with recurrent infections or lymphoma.;
NCIt note : A chromosomal deletion del(6)(q13q21) resulting in the fusion of the SENP6 gene and
the NKAIN2 gene was described in the HT-1 T-cell lymphoma/leukemia cell line. The
ANT-1 T-cell lymphoma/leukemia cell line has a complex rearrangement t(6;8;8)(q21;q11;q24)
involving the NKAIN2 gene. (OMIM);
OMIM relation