Format

Send to:

Choose Destination

OTX2 orthodenticle homeobox 2 [ Homo sapiens (human) ]

Gene ID: 5015, updated on 8-Dec-2018

Summary

Official Symbol
OTX2provided by HGNC
Official Full Name
orthodenticle homeobox 2provided by HGNC
Primary source
HGNC:HGNC:8522
See related
Ensembl:ENSG00000165588 MIM:600037
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
Summary
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See OTX2 in Genome Data Viewer
Location:
14q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (56800707..56810476, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (57267425..57277194, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transmembrane protein 260 Neighboring gene uncharacterized LOC105370515 Neighboring gene ribosomal protein L36a pseudogene 1 Neighboring gene OTX2 antisense RNA 1 (head to head) Neighboring gene RNA, U6 small nuclear 1204, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 461, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-08)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
    Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • TP53 Network, organism-specific biosystem (from WikiPathways)
    TP53 Network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45000

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axon guidance IDA
Inferred from Direct Assay
more info
PubMed 
dopaminergic neuron differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
forebrain development TAS
Traceable Author Statement
more info
PubMed 
midbrain development TAS
Traceable Author Statement
more info
PubMed 
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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
primitive streak formation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
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 
Component Evidence Code Pubs
growth cone IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
homeobox protein OTX2
Names
orthodenticle homolog 2

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

  1. NG_008204.1 RefSeqGene

    Range
    9840..14760
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270523.1NP_001257452.1  homeobox protein OTX2 isoform b

    See identical proteins and their annotated locations for NP_001257452.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment of the coding region, compared to variant 1, and, compared to isoform a, encodes a shorter isoform (b). Variants 2-4 encode the same protein (isoform b).
    Source sequence(s)
    AB593058, BC032579, CV812961
    Consensus CDS
    CCDS41960.1
    UniProtKB/Swiss-Prot
    P32243
    UniProtKB/TrEMBL
    F1T0D1
    Conserved Domains (2) summary
    pfam00046
    Location:4294
    Homeobox; Homeobox domain
    pfam03529
    Location:153234
    TF_Otx; Otx1 transcription factor
  2. NM_001270524.1NP_001257453.1  homeobox protein OTX2 isoform b

    See identical proteins and their annotated locations for NP_001257453.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1, and, compared to isoform a, encodes a shorter isoform (b). Variants 2-4 encode the same protein (isoform b).
    Source sequence(s)
    AB593058, AK314271, BC032579
    Consensus CDS
    CCDS41960.1
    UniProtKB/Swiss-Prot
    P32243
    UniProtKB/TrEMBL
    F1T0D1
    Related
    ENSP00000452336.1, ENST00000555006.5
    Conserved Domains (2) summary
    pfam00046
    Location:4294
    Homeobox; Homeobox domain
    pfam03529
    Location:153234
    TF_Otx; Otx1 transcription factor
  3. NM_001270525.1NP_001257454.1  homeobox protein OTX2 isoform a

    See identical proteins and their annotated locations for NP_001257454.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1, and encodes the longer isoform (a). Variants 1 and 5 encode the same protein (isoform a).
    Source sequence(s)
    AB593056, BC032579, BU176852
    Consensus CDS
    CCDS9728.1
    UniProtKB/Swiss-Prot
    P32243
    UniProtKB/TrEMBL
    F1T0C9, F1T0D1
    Related
    ENSP00000451357.1, ENST00000554845.1
    Conserved Domains (2) summary
    pfam00046
    Location:50102
    Homeobox; Homeobox domain
    pfam03529
    Location:161242
    TF_Otx; Otx1 transcription factor
  4. NM_021728.3NP_068374.1  homeobox protein OTX2 isoform a

    See identical proteins and their annotated locations for NP_068374.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 5 encode the same protein (isoform a).
    Source sequence(s)
    AB593058, BC032579
    Consensus CDS
    CCDS9728.1
    UniProtKB/Swiss-Prot
    P32243
    UniProtKB/TrEMBL
    F1T0D1
    Related
    ENSP00000343819.4, ENST00000339475.9
    Conserved Domains (2) summary
    pfam00046
    Location:50102
    Homeobox; Homeobox domain
    pfam03529
    Location:161242
    TF_Otx; Otx1 transcription factor
  5. NM_172337.2NP_758840.1  homeobox protein OTX2 isoform b

    See identical proteins and their annotated locations for NP_758840.1

    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, and, compared to isoform a, encodes a shorter isoform (b). Variants 2-4 encode the same protein (isoform b).
    Source sequence(s)
    AB593056, AB593057, BC032579
    Consensus CDS
    CCDS41960.1
    UniProtKB/Swiss-Prot
    P32243
    UniProtKB/TrEMBL
    F1T0C9, F1T0D0
    Related
    ENSP00000386185.3, ENST00000408990.7
    Conserved Domains (2) summary
    pfam00046
    Location:4294
    Homeobox; Homeobox domain
    pfam03529
    Location:153234
    TF_Otx; Otx1 transcription factor

RNA

  1. NR_073034.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated.
    Source sequence(s)
    BC032579, DB294481
  2. NR_073036.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks an exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated.
    Source sequence(s)
    AB593056, BC032579

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    56800707..56810476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center