SHOX2

Information SHOX2

Description

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Full Name

short stature homeobox 2

Source NCBI

Species

Homo sapiens [tax_id: 9606]

Genome

hg38

ReMap Statistics

Datasets
1
Biotypes
1
Peaks
13,292
Non-redundant peaks
13,292

TF Classification

Super Class
NA
Class
NA
Familly
NA
Sub Familly
NA

Source TFClass

External IDs

NCBI Gene
6474
Official Gene Name
SHOX2
JASPAR
Ensembl
ENSG00000168779
UniProt
O60902
Genevisible
O60902
RefSeq
NM_001163678
Aliases
OG12; OG12X; SHOT
All peaks SHOX2
Download BED file
Non redundant peaks SHOX2
Download BED file
SEQUENCES SHOX2
Download FASTA file
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Datasets Table for SHOX2

Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks
SHOX2 K-562 ENCODE Homo sapiens ENCSR184IQF 13,292
Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks