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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
4
Cytoband
q25
Chromosome location (bp)
110617423 - 110642123
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation....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 RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]...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 Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003253[cardiac neural crest cell migration involved in outflow tract morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007368[determination of left/right symmetry] GO:0009653[anatomical structure morphogenesis] GO:0035315[hair cell differentiation] GO:0035993[deltoid tuberosity development] GO:0042476[odontogenesis] GO:0043010[camera-type eye development] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048536[spleen development] GO:0060126[somatotropin secreting cell differentiation] GO:0060127[prolactin secreting cell differentiation] GO:0060971[embryonic heart tube left/right pattern formation] GO:0061072[iris morphogenesis] GO:0061325[cell proliferation involved in outflow tract morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070986[left/right axis specification] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0003253[cardiac neural crest cell migration involved in outflow tract morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007368[determination of left/right symmetry] GO:0009653[anatomical structure morphogenesis] GO:0035315[hair cell differentiation] GO:0035993[deltoid tuberosity development] GO:0042476[odontogenesis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043010[camera-type eye development] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048536[spleen development] GO:0060126[somatotropin secreting cell differentiation] GO:0060127[prolactin secreting cell differentiation] GO:0060971[embryonic heart tube left/right pattern formation] GO:0061072[iris morphogenesis] GO:0061325[cell proliferation involved in outflow tract morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070986[left/right axis specification] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003253[cardiac neural crest cell migration involved in outflow tract morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007368[determination of left/right symmetry] GO:0009653[anatomical structure morphogenesis] GO:0035315[hair cell differentiation] GO:0035993[deltoid tuberosity development] GO:0042476[odontogenesis] GO:0043010[camera-type eye development] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048536[spleen development] GO:0060126[somatotropin secreting cell differentiation] GO:0060127[prolactin secreting cell differentiation] GO:0060971[embryonic heart tube left/right pattern formation] GO:0061072[iris morphogenesis] GO:0061325[cell proliferation involved in outflow tract morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070986[left/right axis specification] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] 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 Human disease related genes Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease
Show all
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 Human disease related genes Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] 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 Congenital malformations Congenital malformations of eye Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003253[cardiac neural crest cell migration involved in outflow tract morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007368[determination of left/right symmetry] GO:0009653[anatomical structure morphogenesis] GO:0035315[hair cell differentiation] GO:0035993[deltoid tuberosity development] GO:0042476[odontogenesis] GO:0042803[protein homodimerization activity] GO:0043010[camera-type eye development] GO:0043021[ribonucleoprotein complex binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048536[spleen development] GO:0051219[phosphoprotein binding] GO:0060126[somatotropin secreting cell differentiation] GO:0060127[prolactin secreting cell differentiation] GO:0060971[embryonic heart tube left/right pattern formation] GO:0061072[iris morphogenesis] GO:0061325[cell proliferation involved in outflow tract morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070986[left/right axis specification] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
