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Gene: OTX2 (orthodenticle homeobox 2) Homo sapiens
Symbol: OTX2
Name: orthodenticle homeobox 2
CRRD ID: 1313892
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in neuron differentiation; positive regulation of transcription by RNA polymerase II; and protein-containing complex assembly. Localizes to growth cone; nucleus; and protein-containing complex. Implicated in panhypopituitarism and syndromic microphthalmia 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CPHD6; homeobox protein OTX2; MCOPS5; MGC45000; orthodenticle homolog 2
Mus musculus (house mouse) : Otx2 (orthodenticle homeobox 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Otx2 (orthodenticle homeobox 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Otx2 (orthodenticle homeobox 2)
Pan paniscus (bonobo/pygmy chimpanzee) : OTX2 (orthodenticle homeobox 2)
Canis lupus familiaris (dog) : OTX2 (orthodenticle homeobox 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Otx2 (orthodenticle homeobox 2)
Sus scrofa (pig) : OTX2 (orthodenticle homeobox 2)
Chlorocebus sabaeus (African green monkey) : OTX2 (orthodenticle homeobox 2)
Heterocephalus glaber (naked mole-rat) : Otx2 (orthodenticle homeobox 2)
more info ...
Related Pseudogenes: OTX2P1   OTX2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1456,799,905 - 56,816,693 (-)EnsemblGRCh38hg38GRCh38
GRCh381456,799,905 - 56,810,479 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371457,267,425 - 57,277,194 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361456,337,178 - 56,346,937 (-)NCBINCBI36hg18NCBI36
Build 341456,337,179 - 56,342,098NCBI
Celera1437,316,938 - 37,326,697 (-)NCBI
Cytogenetic Map14q22.3NCBI
HuRef1437,431,939 - 37,441,708 (-)NCBIHuRef
CHM1_11457,206,163 - 57,215,915 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on OTX2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1313892
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.