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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
22
Cytoband
q11.21
Chromosome location (bp)
19756703 - 19783593
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 plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence 1,2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
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 gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital disorders Chromosomal abnormalities Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
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:0001525[angiogenesis] GO:0001568[blood vessel development] GO:0001708[cell fate specification] GO:0001755[neural crest cell migration] GO:0001934[positive regulation of protein phosphorylation] GO:0001945[lymph vessel development] GO:0002053[positive regulation of mesenchymal cell proliferation] GO:0003007[heart morphogenesis] GO:0003148[outflow tract septum morphogenesis] GO:0003151[outflow tract morphogenesis] 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:0007368[determination of left/right symmetry] GO:0007389[pattern specification process] GO:0007498[mesoderm development] GO:0007507[heart development] GO:0007517[muscle organ development] GO:0007605[sensory perception of sound] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0009952[anterior/posterior pattern specification] GO:0021644[vagus nerve morphogenesis] GO:0030855[epithelial cell differentiation] GO:0030878[thyroid gland development] GO:0035176[social behavior] GO:0035909[aorta morphogenesis] GO:0042471[ear morphogenesis] GO:0042472[inner ear morphogenesis] GO:0042473[outer ear morphogenesis] GO:0042474[middle ear morphogenesis] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042693[muscle cell fate commitment] GO:0042803[protein homodimerization activity] GO:0043410[positive regulation of MAPK cascade] GO:0043565[sequence-specific DNA binding] GO:0043587[tongue morphogenesis] GO:0044344[cellular response to fibroblast growth factor stimulus] GO:0045596[negative regulation of cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048384[retinoic acid receptor signaling pathway] GO:0048514[blood vessel morphogenesis] GO:0048538[thymus development] GO:0048644[muscle organ morphogenesis] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048703[embryonic viscerocranium morphogenesis] GO:0048752[semicircular canal morphogenesis] GO:0048844[artery morphogenesis] GO:0050679[positive regulation of epithelial cell proliferation] GO:0060017[parathyroid gland development] GO:0060023[soft palate development] GO:0060037[pharyngeal system development] GO:0060325[face morphogenesis] GO:0060415[muscle tissue morphogenesis] GO:0060982[coronary artery morphogenesis] GO:0070166[enamel mineralization] GO:0071300[cellular response to retinoic acid] GO:0090103[cochlea morphogenesis] GO:0097152[mesenchymal cell apoptotic process] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000027[regulation of animal organ morphogenesis] GO:2001037[positive regulation of tongue muscle cell differentiation] GO:2001054[negative regulation of mesenchymal cell apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital disorders Chromosomal abnormalities Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
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:0001525[angiogenesis] GO:0001568[blood vessel development] GO:0001708[cell fate specification] GO:0001755[neural crest cell migration] GO:0001934[positive regulation of protein phosphorylation] GO:0001945[lymph vessel development] GO:0002053[positive regulation of mesenchymal cell proliferation] GO:0003007[heart morphogenesis] GO:0003148[outflow tract septum morphogenesis] GO:0003151[outflow tract morphogenesis] 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:0007368[determination of left/right symmetry] GO:0007389[pattern specification process] GO:0007498[mesoderm development] GO:0007507[heart development] GO:0007517[muscle organ development] GO:0007605[sensory perception of sound] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0009952[anterior/posterior pattern specification] GO:0021644[vagus nerve morphogenesis] GO:0030855[epithelial cell differentiation] GO:0030878[thyroid gland development] GO:0035176[social behavior] GO:0035909[aorta morphogenesis] GO:0042471[ear morphogenesis] GO:0042472[inner ear morphogenesis] GO:0042473[outer ear morphogenesis] GO:0042474[middle ear morphogenesis] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042693[muscle cell fate commitment] GO:0042803[protein homodimerization activity] GO:0043410[positive regulation of MAPK cascade] GO:0043565[sequence-specific DNA binding] GO:0043587[tongue morphogenesis] GO:0044344[cellular response to fibroblast growth factor stimulus] GO:0045596[negative regulation of cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0048384[retinoic acid receptor signaling pathway] GO:0048514[blood vessel morphogenesis] GO:0048538[thymus development] GO:0048644[muscle organ morphogenesis] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048703[embryonic viscerocranium morphogenesis] GO:0048752[semicircular canal morphogenesis] GO:0048844[artery morphogenesis] GO:0050679[positive regulation of epithelial cell proliferation] GO:0060017[parathyroid gland development] GO:0060023[soft palate development] GO:0060037[pharyngeal system development] GO:0060325[face morphogenesis] GO:0060415[muscle tissue morphogenesis] GO:0060982[coronary artery morphogenesis] GO:0070166[enamel mineralization] GO:0071300[cellular response to retinoic acid] GO:0090103[cochlea morphogenesis] GO:0097152[mesenchymal cell apoptotic process] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000027[regulation of animal organ morphogenesis] GO:2001037[positive regulation of tongue muscle cell differentiation] GO:2001054[negative regulation of mesenchymal cell apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital disorders Chromosomal abnormalities Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
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:0001525[angiogenesis] GO:0001568[blood vessel development] GO:0001708[cell fate specification] GO:0001755[neural crest cell migration] GO:0001934[positive regulation of protein phosphorylation] GO:0001945[lymph vessel development] GO:0002053[positive regulation of mesenchymal cell proliferation] GO:0003007[heart morphogenesis] GO:0003148[outflow tract septum morphogenesis] GO:0003151[outflow tract morphogenesis] 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:0007368[determination of left/right symmetry] GO:0007389[pattern specification process] GO:0007498[mesoderm development] GO:0007507[heart development] GO:0007517[muscle organ development] GO:0007605[sensory perception of sound] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0009952[anterior/posterior pattern specification] GO:0021644[vagus nerve morphogenesis] GO:0030855[epithelial cell differentiation] GO:0030878[thyroid gland development] GO:0035176[social behavior] GO:0035909[aorta morphogenesis] GO:0042471[ear morphogenesis] GO:0042472[inner ear morphogenesis] GO:0042473[outer ear morphogenesis] GO:0042474[middle ear morphogenesis] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042693[muscle cell fate commitment] GO:0042803[protein homodimerization activity] GO:0043410[positive regulation of MAPK cascade] GO:0043565[sequence-specific DNA binding] GO:0043587[tongue morphogenesis] GO:0044344[cellular response to fibroblast growth factor stimulus] GO:0045596[negative regulation of cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048384[retinoic acid receptor signaling pathway] GO:0048514[blood vessel morphogenesis] GO:0048538[thymus development] GO:0048644[muscle organ morphogenesis] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048703[embryonic viscerocranium morphogenesis] GO:0048752[semicircular canal morphogenesis] GO:0048844[artery morphogenesis] GO:0050679[positive regulation of epithelial cell proliferation] GO:0060017[parathyroid gland development] GO:0060023[soft palate development] GO:0060037[pharyngeal system development] GO:0060325[face morphogenesis] GO:0060415[muscle tissue morphogenesis] GO:0060982[coronary artery morphogenesis] GO:0070166[enamel mineralization] GO:0071300[cellular response to retinoic acid] GO:0090103[cochlea morphogenesis] GO:0097152[mesenchymal cell apoptotic process] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000027[regulation of animal organ morphogenesis] GO:2001037[positive regulation of tongue muscle cell differentiation] GO:2001054[negative regulation of mesenchymal cell apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital disorders Chromosomal abnormalities Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital disorders Chromosomal abnormalities Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital disorders Chromosomal abnormalities Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription]