OTX2 orthodenticle homeobox 2 [Homo sapiens] - Gene

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Summary

Official Symbol: OTX2provided by HGNC
Official Full Name: orthodenticle homeobox 2provided by HGNC
Primary source: HGNC:8522
See related: Ensembl:ENSG00000165588; HPRD:07190; MIM:600037; Vega:OTTHUMG00000152338
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPHD6; MCOPS5; MGC45000
Summary: This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper forebrain development. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants may exist, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 14q22.3

Sequence :: Chromosome: 14; NC_000014.8 (57267425..57277184, complement)

See OTX2 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected
Title: Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.
The OTX2 mutation in c.313C > T causing p.Gln105X and a premature stop codon is consistent with the loss of function mutations observed in A/M patients.
Title: Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
functional interaction between OTX2 and MYC in regulating gene expression in medulloblastoma
Title: Joint binding of OTX2 and MYC in promotor regions is associated with high gene expression in medulloblastoma.
OTX2 directly induces a series of cell cycle genes but requires cooperating genes for an oncogenic acceleration of the cell cycle.
Title: Regulation of cell cycle genes and induction of senescence by overexpression of OTX2 in medulloblastoma cell lines.
This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients.
Title: High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
Four of the five OTX2-positive anophthalmia/microphthalmia patients in our study displayed additional systemic findings, including two novel features, Wolf-Parkinson-White syndrome and an anteriorly placed anus
Title: OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.
Otx2 is required to specify neuron subtype in ventral tegmental area and confers resistance to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-HCl (MPTP) poisoning.
Title: Otx2 controls neuron subtype identity in ventral tegmental area and antagonizes vulnerability to MPTP.
SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium.
Title: SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
OTX2 overexpression protects dopaminergic neurons in ventral mesencephalic cultures from Parkinson's disease-relevant toxin, 1-methyl-4-phenylpyridinium, whereas OTX2 downregulation using short hairpin RNA increases their susceptibility.
Title: The transcription factor orthodenticle homeobox 2 influences axonal projections and vulnerability of midbrain dopaminergic neurons.

Submit: New GeneRIF Correction See all (31)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Pituitary hormone deficiency, combined, 6

MIM: 613986

Retinal dystrophy, early-onset, and pituitary dysfunction

MIM: 610125

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Products	Interactant	Other Gene	Source	Pubs	Description
P32243	P54253	ATXN1	HPRD	PubMed
P32243	Q8NFW5	DMBX1	HPRD	PubMed
P32243	Q9Y261	FOXA2	HPRD	PubMed
P32243	O75030	MITF	HPRD	PubMed
P32243	Q04727	TLE4	HPRD	PubMed
BioGRID:111055	BioGRID:109412	FOXA2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111055	BioGRID:110163	LHX1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111055	BioGRID:111055	OTX2	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IDA Inferred from Direct Assay more info
eukaryotic initiation factor 4E binding	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	NAS Non-traceable Author Statement more info

Process	Evidence Code	Pubs
axon guidance	IDA Inferred from Direct Assay more info	PubMed
forebrain development	TAS Traceable Author Statement more info	PubMed
midbrain development	TAS Traceable Author Statement more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
positive regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of gastrulation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info
positive regulation of transcription, DNA-dependent	ISS Inferred from Sequence or Structural Similarity more info
primitive streak formation	ISS Inferred from Sequence or Structural Similarity more info
protein complex assembly	IDA Inferred from Direct Assay more info
regulation of fibroblast growth factor receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
regulation of smoothened signaling pathway	TAS Traceable Author Statement more info	PubMed
regulation of transcription, DNA-dependent	NAS Non-traceable Author Statement more info

Component	Evidence Code	Pubs
growth cone	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info
protein complex	IDA Inferred from Direct Assay more info

General protein information

Preferred Names: homeobox protein OTX2

Names: homeobox protein OTX2; orthodenticle homolog 2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008204.1 RefSeqGene

Range

5001..14760

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021728.2 → NP_068374.1 homeobox protein OTX2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform a.

Source sequence(s)

BC032579

Consensus CDS

CCDS9728.1

UniProtKB/TrEMBL

F1T0D1

UniProtKB/Swiss-Prot

P32243

Related

ENSP00000343819, OTTHUMP00000179022, ENST00000339475, OTTHUMT00000276926

Conserved Domains (2) summary

cd00086
Location:47 – 102
Blast Score: 200

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03529
Location:178 – 243
Blast Score: 277

TF_Otx; Otx1 transcription factor
NM_172337.1 → NP_758840.1 homeobox protein OTX2 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b).

Source sequence(s)

BC032579, BE781530

Consensus CDS

CCDS41960.1

UniProtKB/Swiss-Prot

P32243

Related

ENSP00000386185, OTTHUMP00000245041, ENST00000408990, OTTHUMT00000411547

Conserved Domains (2) summary

cd00086
Location:39 – 94
Blast Score: 198

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03529
Location:170 – 235
Blast Score: 282

TF_Otx; Otx1 transcription factor

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

57267425..57277184, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

37431939..37441698, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB037505.1	BAA90425.1
genomic	AF298117.1	AAG16243.1
genomic	AL161757.4 (55110..64869)	None
genomic	CH471061.1	EAW80692.1
		EAW80693.1
mRNA	AB593056.1	BAJ84003.1
mRNA	AB593057.1	BAJ84004.1
mRNA	AB593058.1	BAJ84005.1
mRNA	AF093138.1	AAD31385.1
mRNA	AK314271.1	BAG36932.1
mRNA	BC032579.1	AAH32579.1
mRNA	BE781530.1	None
other-genetic	DQ890875.2	ABM81801.1
other-genetic	EU176492.1	ABW03293.1