Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

NKX2-1

contributors: mct - updated : 23-10-2015

HGNC name	NK2 homeobox 1
HGNC id	11825

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

TGDRD , BHC , DEL14QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in thyroid adenocarcinoma tumoral       gain of function coactivation of NKX2-1 and NKX2–8 pathways in non-small-cell lung cancer resistant to standard cisplatin therapy and with poor prognosis tumoral   amplification     and overexpression contribute to lung cancer cell proliferation rates and survival and implicate TITF1 as a lineage-specific oncogene in lung cancer constitutional germinal mutation       in neuroendocrine cell hyperplasia of infancy (NEHI) tumoral     --other   ectopic expression of NKX2-1 in diffuse large B-cell lymphoma cells, representing the central player in an oncogenic regulative network compromising B-cell differentiation

Susceptibility

to Hirschsprung disease (HSCR)

Variant & Polymorphism SNP	SNP repressing activation of transcription from HSCR-associated RET promoter haplotypes

Candidate gene	lung disease
Marker
Therapy target

ANIMAL & CELL MODELS