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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 Human 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.
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
q24.31
Chromosome location (bp)
120978543 - 121002512
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]...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 Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia 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:0001221[transcription coregulator binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001750[photoreceptor outer segment] GO:0001824[blastocyst development] GO:0001889[liver development] GO:0001890[placenta development] GO:0001934[positive regulation of protein phosphorylation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006633[fatty acid biosynthetic process] GO:0006699[bile acid biosynthetic process] GO:0006783[heme biosynthetic process] GO:0006979[response to oxidative stress] GO:0008104[protein localization] GO:0008203[cholesterol metabolic process] GO:0009749[response to glucose] GO:0010628[positive regulation of gene expression] GO:0010801[negative regulation of peptidyl-threonine phosphorylation] GO:0010918[positive regulation of mitochondrial membrane potential] GO:0015721[bile acid and bile salt transport] GO:0015908[fatty acid transport] GO:0016573[histone acetylation] GO:0030073[insulin secretion] GO:0030111[regulation of Wnt signaling pathway] GO:0030262[apoptotic nuclear changes] GO:0030326[embryonic limb morphogenesis] GO:0031016[pancreas development] GO:0032024[positive regulation of insulin secretion] GO:0032147[activation of protein kinase activity] GO:0032991[protein-containing complex] GO:0035623[renal glucose absorption] GO:0042593[glucose homeostasis] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0043691[reverse cholesterol transport] GO:0045120[pronucleus] GO:0045453[bone resorption] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046323[glucose import] GO:0046883[regulation of hormone secretion] GO:0046983[protein dimerization activity] GO:0048341[paraxial mesoderm formation] GO:0048608[reproductive structure development] GO:0051897[positive regulation of protein kinase B signaling] GO:0060395[SMAD protein signal transduction] GO:0071233[cellular response to leucine] GO:0071333[cellular response to glucose stimulus] GO:0072752[cellular response to rapamycin] GO:1902031[regulation of NADP metabolic process] GO:1903799[negative regulation of miRNA maturation] GO:2001171[positive regulation of ATP biosynthetic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the urinary system Endocrine and metabolic diseases Diabetes Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
