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FLASH GENE

Symbol

NKX2-4

contributors: mct - updated : 13-12-2022

HGNC name	NK2 transcription factor related, locus 4 (Drosophila)
HGNC id	7837

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     moderately Homo sapiens Nervous brain diencephalon hypothalamus   moderately Homo sapiens Reproductive male system testis

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one homeobox domain

HOMOLOGY

interspecies	homolog to murine Nkx2.4
	homolog to Drosophila Nkx2.4

intraspecies

paralog to NKX2-1 (TITF1)

Homologene

FAMILY

NKX-2 family of homeodomain-containing transcription factors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	NKX2-1 and NKX2-4 activity may likely be required to maintain their expression in specific domains of the developing forebrain
	potentially playing a role in cell type specification and for maintenance of the differentiated phenotype
	play a critical role in lineage-specific regulation of organ development

CELLULAR PROCESS	cell life, differentiation
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	mechanistically, H2AZ1 regulates embryonic neurogenesis by targeting NKX2-4 through interaction with SETD2, thereby promoting H3K36me3 modification to activate the transcription of NKX2-4
	NKX2.4 regulates TERT and CLPTM1L expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       gain of function aberrantly activated NKL homeobox genes NKX2-4 in acute myeloid leukemia (AML), deregulating genes involved in megakaryocytic and erythroid differentiation processes

Susceptibility

to uveal melanoma (UM)

Variant & Polymorphism other	in UM rs452384 is a functional variant that mediates allele-specific binding of the NKX2.4 nuclear factor and the transcriptional activity of the region, including TERT and CLPTM1L

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS