GTF2IRD2 gene information - The Human Protein Atlas

GENERAL INFORMATIONⁱ 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.	GTF2IRD2
Synonyms	FLJ37938, GTF2IRD2A
Gene descriptionⁱ Full gene name according to HGNC.	GTF2I repeat domain containing 2
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s).	Disease related genes
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.	Intracellular
Protein evidence	Evidence at protein level (all genes)

GENE INFORMATIONⁱ 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	q11.23
Chromosome location (bp)	74796151 - 74851605
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	3
Ensembl	ENSG00000196275 (version 109)
Entrez gene	84163
HGNC	HGNC:30775
UniProt	Q86UP8 (UniProt - Evidence at protein level)
neXtProt	NX_Q86UP8
GeneCards	GTF2IRD2
Antibodypedia	GTF2IRD2 antibodies

PROTEIN FUNCTION
Molecular function (UniProt)ⁱ Keywords assigned by UniProt to proteins due to their particular molecular function.	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 one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]... 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.
Splice variant	SwissProt	TrEMBL	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GTF2IRD2-201 ENSP00000406723 ENST00000451013	Q86UP8 [Direct mapping] General transcription factor II-I repeat domain-containing protein 2A Show all		SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Show all	GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006357 [regulation of transcription by RNA polymerase II] Show all	949 aa 107.2 kDa	No	0
GTF2IRD2-205 ENSP00000481017 ENST00000614386	Q86UP8 [Direct mapping] General transcription factor II-I repeat domain-containing protein 2A Show all		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Show all	GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006357 [regulation of transcription by RNA polymerase II] Show all	108 aa 11.9 kDa	No	0
GTF2IRD2-207 ENSP00000498563 ENST00000651129		A0A494C0I1 [Direct mapping] General transcription factor II-I repeat domain-containing protein 2A Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] Show all	1111 aa 125.9 kDa	No	0