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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
X
Cytoband
q26.3
Chromosome location (bp)
137566127 - 137577691
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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 member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [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 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001840[neural plate development] GO:0001947[heart looping] GO:0003228[atrial cardiac muscle tissue development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0007368[determination of left/right symmetry] GO:0007369[gastrulation] GO:0007389[pattern specification process] GO:0007399[nervous system development] GO:0007417[central nervous system development] GO:0007498[mesoderm development] GO:0007507[heart development] GO:0009880[embryonic pattern specification] GO:0009952[anterior/posterior pattern specification] GO:0010467[gene expression] GO:0019827[stem cell population maintenance] GO:0021766[hippocampus development] GO:0021772[olfactory bulb development] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030324[lung development] GO:0030718[germ-line stem cell population maintenance] GO:0030900[forebrain development] GO:0035108[limb morphogenesis] GO:0035283[central nervous system segmentation] GO:0035469[determination of pancreatic left/right asymmetry] GO:0035545[determination of left/right asymmetry in nervous system] GO:0042473[outer ear morphogenesis] GO:0042789[mRNA transcription by RNA polymerase II] GO:0043565[sequence-specific DNA binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048318[axial mesoderm development] GO:0048339[paraxial mesoderm development] GO:0048863[stem cell differentiation] GO:0051090[regulation of DNA-binding transcription factor activity] GO:0060324[face development] GO:0060972[left/right pattern formation] GO:0070986[left/right axis specification] GO:0071907[determination of digestive tract left/right asymmetry] GO:0071910[determination of liver left/right asymmetry] GO:0090009[primitive streak formation] GO:0098727[maintenance of cell number] GO:1904888[cranial skeletal system development] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
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:0001947[heart looping] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007368[determination of left/right symmetry] GO:0007399[nervous system development] GO:0007417[central nervous system development] GO:0030154[cell differentiation] GO:0030324[lung development] GO:0035469[determination of pancreatic left/right asymmetry] GO:0043565[sequence-specific DNA binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0071907[determination of digestive tract left/right asymmetry] GO:0071910[determination of liver left/right asymmetry] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
