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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).
Cancer-related genes 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
14
Cytoband
q23.1
Chromosome location (bp)
60643421 - 60658259
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similarity). Depending on context, functions as transcriptional repressor or activator (By similarity). Lacks an activation domain, and requires interaction with EYA family members for transcription activation 1. Mediates nuclear translocation of EYA1 and EYA2 2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter and CIDEA enhancer 3,4,5,6. Regulates the expression of numerous genes, including MYC, CCND1 and EZR (By similarity). Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2 (By similarity). Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex (By similarity). During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1 7. Promotes brown adipocyte 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 homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [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 Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Ear disease Protein evidence (Ezkurdia et al 2014)
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GO:0000976[transcription cis-regulatory region binding] GO:0003700[DNA-binding transcription factor activity] GO:0045892[negative regulation of DNA-templated transcription]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Nervous system diseases Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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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:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001759[organ induction] GO:0001822[kidney development] GO:0003151[outflow tract morphogenesis] 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:0005730[nucleolus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006915[apoptotic process] GO:0007219[Notch signaling pathway] GO:0007382[specification of segmental identity, maxillary segment] GO:0007389[pattern specification process] GO:0007519[skeletal muscle tissue development] GO:0007605[sensory perception of sound] GO:0008582[regulation of synaptic assembly at neuromuscular junction] GO:0010467[gene expression] GO:0010468[regulation of gene expression] GO:0014033[neural crest cell differentiation] GO:0014842[regulation of skeletal muscle satellite cell proliferation] GO:0014857[regulation of skeletal muscle cell proliferation] GO:0021610[facial nerve morphogenesis] GO:0022008[neurogenesis] GO:0030855[epithelial cell differentiation] GO:0030878[thyroid gland development] GO:0030910[olfactory placode formation] GO:0032880[regulation of protein localization] GO:0034504[protein localization to nucleus] GO:0035909[aorta morphogenesis] GO:0042472[inner ear morphogenesis] GO:0042474[middle ear morphogenesis] GO:0043066[negative regulation of apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0043586[tongue development] GO:0045664[regulation of neuron differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048538[thymus development] GO:0048665[neuron fate specification] GO:0048699[generation of neurons] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048704[embryonic skeletal system morphogenesis] GO:0048705[skeletal system morphogenesis] GO:0048741[skeletal muscle fiber development] GO:0048839[inner ear development] GO:0048856[anatomical structure development] GO:0050678[regulation of epithelial cell proliferation] GO:0051450[myoblast proliferation] GO:0051451[myoblast migration] GO:0060037[pharyngeal system development] GO:0061055[myotome development] GO:0061197[fungiform papilla morphogenesis] GO:0061551[trigeminal ganglion development] GO:0071599[otic vesicle development] GO:0072075[metanephric mesenchyme development] GO:0072095[regulation of branch elongation involved in ureteric bud branching] GO:0072107[positive regulation of ureteric bud formation] GO:0072172[mesonephric tubule formation] GO:0072193[ureter smooth muscle cell differentiation] GO:0072198[mesenchymal cell proliferation involved in ureter development] GO:0072513[positive regulation of secondary heart field cardioblast proliferation] GO:0086100[endothelin receptor signaling pathway] GO:0090103[cochlea morphogenesis] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:0090336[positive regulation of brown fat cell differentiation] GO:1905243[cellular response to 3,3',5-triiodo-L-thyronine] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000288[positive regulation of myoblast proliferation] GO:2000729[positive regulation of mesenchymal cell proliferation involved in ureter development] GO:2001014[regulation of skeletal muscle cell differentiation]
The Human Protein Atlas project is funded
