OTX1 (orthodenticle homeobox 1)

2010-03-01  

Identity

HGNC
LOCATION
2p15
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 5013
MIM: 600036
HGNC: 8521
Ensembl: ENSG00000115507

Variants:

dbSNP: 5013
ClinVar: 5013
TCGA: ENSG00000115507
COSMIC: OTX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115507ENST00000282549P32242
ENSG00000115507ENST00000366671P32242
ENSG00000115507ENST00000405984B5MC54

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203541452010Expression of the homeobox genes OTX2 and OTX1 in the early developing human brain.22
188493472009BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.18
194140652009Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.12
214789102011OTX1 expression in breast cancer is regulated by p53.12
252030622014Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.11
243889892014OTX1 promotes colorectal cancer progression through epithelial-mesenchymal transition.10
2175057520112p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.8
119013582002Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1.7
190182352008Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders.7
198930482009Expression of the brain transcription factor OTX1 occurs in a subset of normal germinal-center B cells and in aggressive Non-Hodgkin Lymphoma.7

Citation

Dessen P

OTX1 (orthodenticle homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51362/otx1-(orthodenticle-homeobox-1)