NKX2-5

Information NKX2-5

Description

This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Full Name

NK2 homeobox 5

Source NCBI

Species

Homo sapiens [tax_id: 9606]

Genome

hg38

ReMap Statistics

Datasets
2
Biotypes
1
Peaks
30,037
Non-redundant peaks
20,760

TF Classification

Super Class
NA
Class
NA
Familly
NA
Sub Familly
NA

Source TFClass

External IDs

NCBI Gene
1482
Official Gene Name
NKX2-5
JASPAR
Ensembl
ENSG00000183072
UniProt
P52952
Genevisible
P52952
RefSeq
Aliases
CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E; NKX4-1; VSD3
All peaks NKX2-5
Download BED file
Non redundant peaks NKX2-5
Download BED file
SEQUENCES NKX2-5
Download FASTA file
DOWNLOAD All ReMap
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Datasets Table for NKX2-5

Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks
NKX2-5 hESC sc-14033 GEO Homo sapiens GSE89457 11,097
NKX2-5 hESC ab3584 GEO Homo sapiens GSE89457 18,940
Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks