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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
7
Cytoband
p14.2
Chromosome location (bp)
35202430 - 35254100
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 a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart....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 encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]...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 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: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:0001569[branching involved in blood vessel morphogenesis] GO:0001570[vasculogenesis] GO:0001706[endoderm formation] GO:0001708[cell fate specification] GO:0001947[heart looping] GO:0003143[embryonic heart tube morphogenesis] GO:0003148[outflow tract septum morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003171[atrioventricular valve development] GO:0003175[tricuspid valve development] GO:0003176[aortic valve development] GO:0003180[aortic valve morphogenesis] GO:0003193[pulmonary valve formation] GO:0003203[endocardial cushion morphogenesis] GO:0003207[cardiac chamber formation] GO:0003215[cardiac right ventricle morphogenesis] GO:0003272[endocardial cushion formation] GO:0003279[cardiac septum development] GO:0003344[pericardium morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006936[muscle contraction] GO:0008015[blood circulation] GO:0008283[cell population proliferation] GO:0009953[dorsal/ventral pattern formation] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010991[negative regulation of SMAD protein complex assembly] GO:0014031[mesenchymal cell development] GO:0021524[visceral motor neuron differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0035050[embryonic heart tube development] GO:0035922[foramen ovale closure] GO:0036302[atrioventricular canal development] GO:0036306[embryonic heart tube elongation] 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:0048370[lateral mesoderm formation] GO:0055008[cardiac muscle tissue morphogenesis] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0060413[atrial septum morphogenesis] GO:0060577[pulmonary vein morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0097475[motor neuron migration] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
