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Tbio
SHOX2
Short stature homeobox protein 2

Protein Summary
Description
May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000389589
  • ENSP00000374240
  • ENSG00000168779
  • ENST00000441443
  • ENSP00000397099
  • ENST00000483851
  • ENSP00000419362

Symbol
  • OG12X
  • SHOT
  • OG12
  • SHOT
  • OG12X
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.92
PubMedID
0.77
disease perturbation
0.74
transcription factor perturbation
0.74
protein domain
0.73


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.37   (req: < 5)
Gene RIFs: 27   (req: <= 3)
Antibodies: 134   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 112.37   (req: >= 5)
Gene RIFs: 27   (req: > 3)
Antibodies: 134   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body height
2
2
2
68.1
chin morphology measurement
1
1
0
1.1
54.4
body mass index
1
1
1
54.4
unipolar depression
1
1
0
6
33.1
worry measurement
1
1
1
24.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body height
2
68.1
chin morphology measurement
0
1.1
54.4
body mass index
1
54.4
unipolar depression
0
6
33.1
worry measurement
1
24.5
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
short stature homeobox 2
460809
Macaque
short stature homeobox 2
704327
Mouse
MGI:1201673
20429
Rat
RGD:3674
25546
Dog
short stature homeobox 2
VGNC:46154
485732
Species
Name
OMA
EggNOG
Inparanoid
Chimp
short stature homeobox 2
Macaque
short stature homeobox 2
Mouse
Rat
Dog
short stature homeobox 2
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-O60902-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Protein-Protein Interactions (58)
1 – 10 of 58
TBX18
Tbio
Family:  TF
Novelty:  0.01287164
Score:  0.796
Data Source:  STRINGDB
TBX3
Tbio
Family:  TF
Novelty:  0.00515507
Score:  0.762
Data Source:  STRINGDB
BMP4
Tchem
Novelty:  0.00047387
Score:  0.749
Data Source:  STRINGDB
ISL1
Tbio
Family:  TF
Novelty:  0.00169431
Score:  0.742
Data Source:  STRINGDB
HCN4
Tclin
Family:  IC
Novelty:  0.0021957
Score:  0.715
Data Source:  STRINGDB
TBX5
Tbio
Family:  TF
Novelty:  0.00272208
Score:  0.704
Data Source:  STRINGDB
TBX22
Tbio
Family:  TF
Novelty:  0.00824505
Score:  0.686
Data Source:  STRINGDB
IPO13
Tbio
Novelty:  0.01954093
Score:  0.674
Data Source:  STRINGDB
TBX15
Tbio
Family:  TF
Novelty:  0.03198241
Score:  0.664
Data Source:  STRINGDB
GJA1
Tbio
Novelty:  0.00021332
Score:  0.659
Data Source:  STRINGDB
Publication Statistics
PubMed Score  112.37

PubMed score by year
PubTator Score  68.73

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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