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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q22.3
Chromosome location (bp)
56799905 - 56816693
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
G3V3P9 [Direct mapping] Homeobox protein OTX2 F1T0D1 [Target identity:100%; Query identity:100%] Homeobox protein OTX2; Orthodenticle homolog 2 (Drosophila), isoform CRA_b
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Congenital malformations of eye Endocrine and metabolic diseases Hypothalamus and pituitary gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007275[multicellular organism development] GO:0007411[axon guidance] GO:0008190[eukaryotic initiation factor 4E binding] GO:0008589[regulation of smoothened signaling pathway] GO:0030426[growth cone] GO:0030900[forebrain development] GO:0030901[midbrain development] GO:0032991[protein-containing complex] GO:0040019[positive regulation of embryonic development] GO:0040036[regulation of fibroblast growth factor receptor signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0065003[protein-containing complex assembly] GO:0071542[dopaminergic neuron differentiation] GO:0090009[primitive streak formation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation]
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