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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 Plasma proteins 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
12
Cytoband
q24.21
Chromosome location (bp)
114670255 - 114684175
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional repressor involved in developmental processes 1. Binds to the palindromic T site 5'- TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes 2. Probably plays a role in limb pattern formation 3. Required for mammary placode induction, and maintenance of the mammary buds during development (By similarity). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2 (By similarity). Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity). Involved in modulating early inner ear development, acting independently of, and also redundantly with, TBX2 in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence 4....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.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [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.
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001708[cell fate specification] GO:0001947[heart looping] GO:0003205[cardiac chamber development] GO:0003272[endocardial cushion formation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0008284[positive regulation of cell population proliferation] GO:0008595[anterior/posterior axis specification, embryo] GO:0009887[animal organ morphogenesis] GO:0030539[male genitalia development] GO:0030540[female genitalia development] GO:0030879[mammary gland development] GO:0032275[luteinizing hormone secretion] GO:0035115[embryonic forelimb morphogenesis] GO:0035136[forelimb morphogenesis] GO:0036302[atrioventricular canal development] GO:0042733[embryonic digit morphogenesis] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045662[negative regulation of myoblast differentiation] GO:0045787[positive regulation of cell cycle] 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:0046884[follicle-stimulating hormone secretion] GO:0048332[mesoderm morphogenesis] GO:0060317[cardiac epithelial to mesenchymal transition] GO:0060931[sinoatrial node cell development] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090398[cellular senescence] GO:1905072[cardiac jelly development] GO:1905222[atrioventricular canal morphogenesis] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000137[negative regulation of cell proliferation involved in heart morphogenesis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001568[blood vessel development] GO:0001701[in utero embryonic development] GO:0001708[cell fate specification] GO:0001947[heart looping] GO:0003007[heart morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003167[atrioventricular bundle cell differentiation] GO:0003205[cardiac chamber development] GO:0003272[endocardial cushion formation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005929[cilium] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0008284[positive regulation of cell population proliferation] GO:0008595[anterior/posterior axis specification, embryo] GO:0009887[animal organ morphogenesis] GO:0010159[specification of animal organ position] GO:0019827[stem cell population maintenance] GO:0021761[limbic system development] GO:0030539[male genitalia development] GO:0030540[female genitalia development] GO:0030857[negative regulation of epithelial cell differentiation] GO:0030879[mammary gland development] GO:0031647[regulation of protein stability] GO:0032275[luteinizing hormone secretion] GO:0035050[embryonic heart tube development] GO:0035108[limb morphogenesis] GO:0035115[embryonic forelimb morphogenesis] GO:0035116[embryonic hindlimb morphogenesis] GO:0035136[forelimb morphogenesis] GO:0036302[atrioventricular canal development] GO:0042127[regulation of cell population proliferation] GO:0042472[inner ear morphogenesis] GO:0042733[embryonic digit morphogenesis] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045662[negative regulation of myoblast differentiation] GO:0045787[positive regulation of cell cycle] 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:0046884[follicle-stimulating hormone secretion] GO:0048332[mesoderm morphogenesis] GO:0048752[semicircular canal morphogenesis] GO:0051145[smooth muscle cell differentiation] GO:0055007[cardiac muscle cell differentiation] GO:0060021[roof of mouth development] GO:0060317[cardiac epithelial to mesenchymal transition] GO:0060412[ventricular septum morphogenesis] GO:0060444[branching involved in mammary gland duct morphogenesis] GO:0060596[mammary placode formation] GO:0060923[cardiac muscle cell fate commitment] GO:0060931[sinoatrial node cell development] GO:0061017[hepatoblast differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061635[regulation of protein complex stability] GO:0072089[stem cell proliferation] GO:0072105[ureteric peristalsis] GO:0090398[cellular senescence] GO:1905072[cardiac jelly development] GO:1905222[atrioventricular canal morphogenesis] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000137[negative regulation of cell proliferation involved in heart morphogenesis] GO:2000648[positive regulation of stem cell proliferation] GO:2000737[negative regulation of stem cell differentiation]
The Human Protein Atlas project is funded
