DMBX1 (diencephalon/mesencephalon homeobox 1)

2014-11-01  

Identity

HGNC
DMBX1
LOCATION
1p33
LOCUSID
127343
ALIAS
MBX,OTX3,PAXB

Other Information

Locus ID:

NCBI: 127343
MIM: 607410
HGNC: 19026
Ensembl: ENSG00000197587

Variants:

dbSNP: 127343
ClinVar: 127343
TCGA: ENSG00000197587
COSMIC: DMBX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197587ENST00000360032Q8NFW5
ENSG00000197587ENST00000371956Q8NFW5

Expression (GTEx)

0
1
2
3
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
279806952016Epigenome-wide association data implicates DNA methylation-mediated genetic risk in psoriasis.4
309283842019DMBX1 promotes tumor proliferation and regulates cell cycle progression via repressing OTX2-mediated transcription of p21 in lung adenocarcinoma cell.4
179905942007Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract.1

Citation

Dessen P

DMBX1 (diencephalon/mesencephalon homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62531/dmbx1-(diencephalon-mesencephalon-homeobox-1)