SHOX2 (short stature homeobox 2)

2011-04-01  

Identity

HGNC
SHOX2
LOCATION
3q25.32
LOCUSID
6474
ALIAS
OG12,OG12X,SHOT

Other Information

Locus ID:

NCBI: 6474
MIM: 602504
HGNC: 10854
Ensembl: ENSG00000168779

Variants:

dbSNP: 6474
ClinVar: 6474
TCGA: ENSG00000168779
COSMIC: SHOX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168779ENST00000389589O60902
ENSG00000168779ENST00000425436A6NLG4
ENSG00000168779ENST00000441443O60902
ENSG00000168779ENST00000483851O60902
ENSG00000168779ENST00000554685A0A087WVB7

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
216946412011SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer in plasma.57
210473922010SHOX2 DNA methylation is a biomarker for the diagnosis of lung cancer based on bronchial aspirates.45
221086522012Performance evaluation of the DNA methylation biomarker SHOX2 for the aid in diagnosis of lung cancer based on the analysis of bronchial aspirates.37
208585982010Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart.32
247463612014SHOX2 is a direct miR-375 target and a novel epithelial-to-mesenchymal transition inducer in breast cancer cells.30
225550922012DNA methylation of the homeobox genes PITX2 and SHOX2 predicts outcome in non-small-cell lung cancer patients.29
275440592017Validation of the SHOX2/PTGER4 DNA Methylation Marker Panel for Plasma-Based Discrimination between Patients with Malignant and Nonmalignant Lung Disease.29
255336362015SHOX2 overexpression favors differentiation of embryonic stem cells into cardiac pacemaker cells, improving biological pacing ability.22
240265392013Assessment of SHOX2 methylation in EBUS-TBNA specimen improves accuracy in lung cancer staging.21
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20

Citation

Dessen P

SHOX2 (short stature homeobox 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-04-01

Online version: http://atlasgeneticsoncology.org/gene/52186/shox2