Hs02699165_cn

• Gene Symbol: NKX2-1
• Assay Reference Genome Location: Chr.14:36516991 on build GRCh38
• Cytoband: 14q13.3

Target Gene Details

• Entrez Gene ID: 7080
• Gene Name: NK2 homeobox 1
• Gene Aliases: BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, T/EBP, TEBP, TITF1, TTF-1, TTF1
• Location: Chr.14:36516397-36520225 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NKX2-1	NM_001079668.2	3	1589	NP_001073136.1
	NM_003317.3	2	1744	NP_003308.1
	BC006221.2	3	1523	AAH06221.2
	BM970287.1	1	609
	U33749.1	2	1744	AAB52381.1
	U43203.1	3	1575	AAA89066.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv819045	Chr.14:36516524 - 36518288 on Build GRCh38	Gain	NKX2-1

More Information

Additional Information:

For this assay, SNP(s) [rs140427692] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

homeodomain transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
neuron migration
regulation of blood volume by renin-angiotensin
transcription, DNA-templated
phospholipid metabolic process
axon guidance
brain development
endoderm development
locomotory behavior
feeding behavior
response to hormone
positive regulation of gene expression
negative regulation of epithelial to mesenchymal transition
globus pallidus development
hippocampus development
cerebral cortex cell migration
forebrain dorsal/ventral pattern formation
forebrain neuron fate commitment
cerebral cortex GABAergic interneuron differentiation
pituitary gland development
lung development
negative regulation of cell migration
negative regulation of transforming growth factor beta receptor signaling pathway
thyroid gland development
forebrain development
developmental induction
response to lipopolysaccharide
Leydig cell differentiation
hyperosmotic salinity response
positive regulation of circadian rhythm
response to ethanol
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
development of primary female sexual characteristics
rhythmic process
anatomical structure formation involved in morphogenesis
oligodendrocyte differentiation
lung saccule development
epithelial tube branching involved in lung morphogenesis
Clara cell differentiation
Type II pneumocyte differentiation

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II regulatory region DNA binding
core promoter binding
intronic transcription regulatory region sequence-specific DNA binding
DNA binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
protein binding
enzyme binding
transcription regulatory region DNA binding
intronic transcription regulatory region DNA binding