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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 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
17
Cytoband
q23.2
Chromosome location (bp)
61399843 - 61409466
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 which acts as a transcriptional repressor 1,2,3,4,5. May also function as a transcriptional activator (By similarity). 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 6,7,8,9. Required for cardiac atrioventricular canal formation 10. May cooperate with NKX2.5 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). May play a role as a positive regulator of TGFB2 expression, perhaps acting in concert with GATA4 in the developing outflow tract myocardium (By similarity). Plays a role in limb pattern formation 11. Acts as a transcriptional repressor of ADAM10 gene expression, perhaps in concert with histone deacetylase HDAC1 as cofactor 12. Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX3 (By similarity). Required, together with TBX3, 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 TBX3, in different subregions of the developing ear (By similarity). Acts as a negative regulator of PML function in cellular senescence 13. Acts as a negative regulator of expression of CDKN1A/p21, IL33 and CCN4; repression of CDKN1A is enhanced in response to UV-induced stress, perhaps as a result of phosphorylation by p38 MAPK (By similarity). Negatively modulates expression of CDKN2A/p14ARF and CDH1/E-cadherin 14,15,16. Plays a role in induction of the epithelial-mesenchymal transition (EMT) 17. Plays a role in melanocyte proliferation, perhaps via regulation of cyclin CCND1 (By similarity). Involved in melanogenesis, acting via negative modulation of expression of DHICA oxidase/TYRP1 and P protein/OCA2 (By similarity). Involved in regulating retinal pigment epithelium (RPE) cell proliferation, perhaps via negatively modulating transcription of the transcription factor CEBPD 18....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 is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted 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.
Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Immunoglobulin fold Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
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:0001708[cell fate specification] GO:0001947[heart looping] GO:0003007[heart morphogenesis] GO:0003148[outflow tract septum morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003272[endocardial cushion formation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005667[transcription regulator complex] 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:0007521[muscle cell fate determination] GO:0008016[regulation of heart contraction] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0022008[neurogenesis] GO:0032526[response to retinoic acid] GO:0035050[embryonic heart tube development] GO:0035909[aorta morphogenesis] GO:0036302[atrioventricular canal development] GO:0042733[embryonic digit morphogenesis] GO:0042826[histone deacetylase binding] GO:0043474[pigment metabolic process involved in pigmentation] GO:0043565[sequence-specific DNA binding] 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:0048596[embryonic camera-type eye morphogenesis] GO:0048738[cardiac muscle tissue development] GO:0051145[smooth muscle cell differentiation] GO:0060021[roof of mouth development] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0060379[cardiac muscle cell myoblast differentiation] GO:0060441[epithelial tube branching involved in lung morphogenesis] GO:0060465[pharynx development] GO:0060560[developmental growth involved in morphogenesis] GO:0060596[mammary placode formation] GO:0060916[mesenchymal cell proliferation involved in lung development] GO:0072105[ureteric peristalsis] GO:0090103[cochlea morphogenesis] GO:0090398[cellular senescence] GO:0097325[melanocyte proliferation] GO:0140297[DNA-binding transcription factor binding] GO:1901208[negative regulation of heart looping] GO:1901211[negative regulation of cardiac chamber formation] GO:1902808[positive regulation of cell cycle G1/S phase transition] GO:1905072[cardiac jelly development] GO:1905222[atrioventricular canal morphogenesis] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000773[negative regulation of cellular senescence]
The Human Protein Atlas project is funded
