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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
7
Cytoband
q32.1
Chromosome location (bp)
127610292 - 127618142
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [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 Endocrine and metabolic diseases Diabetes Mapped to neXtProt neXtProt - Evidence at protein level
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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:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0009887[animal organ morphogenesis] GO:0030154[cell differentiation] GO:0031016[pancreas development] GO:0048856[anatomical structure development] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes
A0A1W2PPX4 [Direct mapping] Paired box protein Pax-4
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0003309[type B pancreatic cell differentiation] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0005634[nucleus] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0007623[circadian rhythm] GO:0009410[response to xenobiotic stimulus] GO:0030858[positive regulation of epithelial cell differentiation] GO:0031016[pancreas development] GO:0043066[negative regulation of apoptotic process] GO:0045595[regulation of cell differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0048856[anatomical structure development] GO:0051591[response to cAMP] GO:0060041[retina development in camera-type eye]
The Human Protein Atlas project is funded
