SHOX2 - short stature homeobox 2 Gene

Homo sapiens

Also known as OG12; SHOT; OG12X

Gene ID: 6474 | Gene type: protein coding

About SHOX2

Cytogenetic location: 3q25.32 Genomic coordinates (GRCh38): 3:158,095,905-158,106,420 (from NCBI)

This gene has 5 transcripts (splice variants), 195 orthologues and 50 paralogues. Biased expression in fat (RPKM 3.0), lymph node (RPKM 1.2) and 4 other tissues.

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]

SHOX2 Products(3)

mRNA	Protein	Name
NM_001163678.2	NP_001157150.1	short stature homeobox protein 2 isoform c
NM_003030.4	NP_003021.3	short stature homeobox protein 2 isoform b
NM_006884.3	NP_006875.2	short stature homeobox protein 2 isoform a

SHOX2 Protein Structure

Homeobox

OAR

0
100
190 a.a.

Protein Preferred Names

Protein Names

short stature homeobox protein 2

SHOX homologous gene on chromosome 3

Related Diseases

Diseases

Alias

Turner Syndrome

Monosomy X	Gonadal Dysgenesis Turner Type
Ullrich-Turner Syndrome	Bonnevie-Ullrich Syndrome
Karyotype 45, X	Genital Dwarfism, Turner Type
Gonadal Dysgenesis	45,X
Turner'S Syndrome	Gonadal Dysgenesis - Turner
Monosomy X Syndrome	Xo Syndrome
Genital Dwarfism	45, X Syndrome
Bonnevie-Ulrich Syndrome	Chromosome X Monosomy X
Schereshevkii Turner Syndrome	Turner Varny Syndrome
Ts	45,X Syndrome
45,X/46,Xx Syndrome	Turners Syndrome
Gonadal Dysgenesis, 45,X	X0 Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Shox-Related Short Stature

Idiopathic Familial Short Stature

Leri-Weill Dyschondrosteosis

LWD	Dyschondrosteosis
Dco	Léri-Weill Dyschondrosteosis
Leri Weill Dyschondrosteosis	Leri-Weill Syndrome
Leri-Weil Syndrome	Dyschondrosteosis, Leri-Weill

Sinoatrial Node Disease

Sa Node	Sinuatrial Node
Sinus Node Dysfunction

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Orofacial Cleft

Cleft, Orofacial

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12880	SHOX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SHOX2	VGNC	VGNC:102842
Macaca mulatta	SHOX2	VGNC	VGNC:77212
Mus musculus	SHOX2	MGD	MGI:1201673
Bos taurus	SHOX2	VGNC	VGNC:34606
Canis familiaris	SHOX2	VGNC	VGNC:46154
Rattus norvegicus	SHOX2	RGD	RGD:3674

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