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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
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
12
Cytoband
q12
Chromosome location (bp)
42456757 - 42590355
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000502[proteasome complex] GO:0001843[neural tube closure] GO:0001894[tissue homeostasis] GO:0003151[outflow tract morphogenesis] GO:0003402[planar cell polarity pathway involved in axis elongation] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0006915[apoptotic process] GO:0007010[cytoskeleton organization] GO:0007163[establishment or maintenance of cell polarity] GO:0007173[epidermal growth factor receptor signaling pathway] GO:0007409[axonogenesis] GO:0007507[heart development] GO:0008219[cell death] GO:0008270[zinc ion binding] GO:0009410[response to xenobiotic stimulus] GO:0009887[animal organ morphogenesis] GO:0009888[tissue development] GO:0010467[gene expression] GO:0016020[membrane] GO:0016043[cellular component organization] GO:0016055[Wnt signaling pathway] GO:0016192[vesicle-mediated transport] GO:0016358[dendrite development] GO:0016477[cell migration] GO:0030010[establishment of cell polarity] GO:0030282[bone mineralization] GO:0030326[embryonic limb morphogenesis] GO:0030705[cytoskeleton-dependent intracellular transport] GO:0031175[neuron projection development] GO:0031254[cell trailing edge] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035108[limb morphogenesis] GO:0035264[multicellular organism growth] GO:0035880[embryonic nail plate morphogenesis] GO:0035904[aorta development] GO:0036342[post-anal tail morphogenesis] GO:0042733[embryonic digit morphogenesis] GO:0044782[cilium organization] GO:0044877[protein-containing complex binding] GO:0045184[establishment of protein localization] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0048812[neuron projection morphogenesis] GO:0051602[response to electrical stimulus] GO:0055013[cardiac muscle cell development] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0060173[limb development] GO:0060271[cilium assembly] GO:0060325[face morphogenesis] GO:0060485[mesenchyme development] GO:0060976[coronary vasculature development] GO:0061029[eyelid development in camera-type eye] GO:0061159[establishment of bipolar cell polarity involved in cell morphogenesis] GO:0061303[cornea development in camera-type eye] GO:0061326[renal tubule development] GO:0061865[polarized secretion of basement membrane proteins in epithelium] GO:0070075[tear secretion] GO:0071711[basement membrane organization] GO:0085029[extracellular matrix assembly] GO:0090009[primitive streak formation] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090307[mitotic spindle assembly] GO:0098609[cell-cell adhesion] GO:0120181[focal adhesion disassembly] GO:1905070[anterior visceral endoderm cell migration] GO:1990138[neuron projection extension] GO:1990403[embryonic brain development] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001843[neural tube closure] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006606[protein import into nucleus] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0031398[positive regulation of protein ubiquitination] GO:0031965[nuclear membrane] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:2000691[negative regulation of cardiac muscle cell myoblast differentiation]