DMBX1 (diencephalon/mesencephalon homeobox 1)

2014-11-01 Affiliation

Identity

HGNC

DMBX1

LOCATION

1p33

LOCUSID

127343

ALIAS

MBX,OTX3,PAXB

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197587	ENST00000360032	Q8NFW5
ENSG00000197587	ENST00000371956	Q8NFW5

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
30928384	2019	DMBX1 promotes tumor proliferation and regulates cell cycle progression via repressing OTX2-mediated transcription of p21 in lung adenocarcinoma cell.	9
30928384	2019	DMBX1 promotes tumor proliferation and regulates cell cycle progression via repressing OTX2-mediated transcription of p21 in lung adenocarcinoma cell.	9
27980695	2016	Epigenome-wide association data implicates DNA methylation-mediated genetic risk in psoriasis.	17
27980695	2016	Epigenome-wide association data implicates DNA methylation-mediated genetic risk in psoriasis.	17
17990594	2007	Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract.	1
17990594	2007	Mutational 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