Basic Information

Symbol
SHOX2
RNA class
mRNA
Alias
SHOX Homeobox 2 OG12X SHOT OG12 SHOX Homologous Gene On Chromosome 3 Paired-Related Homeobox Protein SHOT Short Stature Homeobox Protein 2 Short Stature Homeobox 2 Homeobox Protein Og12X
Location (GRCh38)
3:158095905-158106420
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001163678.2
Sequence length
3478.0 nt
GC content
0.4733

Transcripts

ID Sequence Length GC content
NM_001163678.2 NCBI
GCUAUCAGAUCUGAACUCUCCGCAGGAAGAAUUGUCAAAGAUCUUAACA… 3478 nt 0.4733
NM_003030.4 NCBI
CCUCCUCCCUCUCCUCCCCCACCUCCUGUCCCAUUGAUGUGUUAUUAUU… 3233 nt 0.4751
NM_006884.3 NCBI
CCUCCUCCCUCUCCUCCCCCACCUCCUGUCCCAUUGAUGUGUUAUUAUU… 3161 nt 0.4726
Summary

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]

Forensic Context

A study in pigs (Sus scrofa) demonstrated that the candidate cold-resistance gene SHOX2 showed changes in the H3K27ac modification state around its transcription start site in the diencephalon of Min pigs following cold exposure [Yaping Guo et al. DOI:10.1016/j.jgg.2024.06.017].