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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).
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
q31.22
Chromosome location (bp)
146638893 - 146642474
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells 1,2. Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner 3,4. Binds to the consensus octamer motif 5'-AT[A/T]A[T/A]T[A/T]A-3' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooperates positively with ISL1 and ISL2 to potentiate transcriptional activation of RGC target genes being involved in RGC fate commitment in the developing retina and RGC axon formation and pathfinding. Inhibits DLX1 and DLX2 transcriptional activities preventing DLX1- and DLX2-mediated ability to promote amacrine cell fate specification. In cooperation with TP53 potentiates transcriptional activation of BAX promoter activity increasing neuronal cell apoptosis. Negatively regulates BAX promoter activity in the absence of TP53. Acts as a transcriptional coactivator via its interaction with the transcription factor ESR1 by enhancing its effect on estrogen response element (ERE)-containing promoter. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to an octamer motif. Involved in TNFSF11-mediated terminal osteoclast differentiation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]...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.
Q12837 [Direct mapping] POU domain, class 4, transcription factor 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000165[MAPK cascade] GO:0000785[chromatin] GO:0000791[euchromatin] 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0007409[axonogenesis] GO:0007411[axon guidance] GO:0007507[heart development] GO:0007605[sensory perception of sound] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0031290[retinal ganglion cell axon guidance] GO:0032869[cellular response to insulin stimulus] GO:0043068[positive regulation of programmed cell death] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0045596[negative regulation of cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045672[positive regulation of osteoclast differentiation] GO:0045773[positive regulation of axon extension] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046326[positive regulation of glucose import] GO:0048675[axon extension] GO:0050885[neuromuscular process controlling balance] GO:0051090[regulation of DNA-binding transcription factor activity] GO:0060041[retina development in camera-type eye] GO:0071345[cellular response to cytokine stimulus] GO:0071392[cellular response to estradiol stimulus] GO:0072332[intrinsic apoptotic signaling pathway by p53 class mediator] GO:0090259[regulation of retinal ganglion cell axon guidance] GO:1902870[negative regulation of amacrine cell differentiation] GO:1904178[negative regulation of adipose tissue development] GO:1990791[dorsal root ganglion development] GO:1990841[promoter-specific chromatin binding] GO:2000679[positive regulation of transcription regulatory region DNA binding]
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