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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 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
2
Cytoband
q14.1
Chromosome location (bp)
113215997 - 113278921
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 for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells....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.
This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]...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 Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001655[urogenital system development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0001823[mesonephros development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004996[thyroid-stimulating hormone receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0009653[anatomical structure morphogenesis] GO:0030154[cell differentiation] GO:0030878[thyroid gland development] GO:0038194[thyroid-stimulating hormone signaling pathway] GO:0039003[pronephric field specification] GO:0042472[inner ear morphogenesis] GO:0042981[regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048793[pronephros development] GO:0048856[anatomical structure development] GO:0071371[cellular response to gonadotropin stimulus] GO:0071599[otic vesicle development] GO:0072108[positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0072207[metanephric epithelium development] GO:0072221[metanephric distal convoluted tubule development] GO:0072278[metanephric comma-shaped body morphogenesis] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072289[metanephric nephron tubule formation] GO:0072305[negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis] GO:0072307[regulation of metanephric nephron tubule epithelial cell differentiation] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:1900212[negative regulation of mesenchymal cell apoptotic process involved in metanephros development] GO:1900215[negative regulation of apoptotic process involved in metanephric collecting duct development] GO:1900218[negative regulation of apoptotic process involved in metanephric nephron tubule development] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000594[positive regulation of metanephric DCT cell differentiation] GO:2000611[positive regulation of thyroid hormone generation] GO:2000612[regulation of thyroid-stimulating hormone secretion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001655[urogenital system development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0001823[mesonephros development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004996[thyroid-stimulating hormone receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0009653[anatomical structure morphogenesis] GO:0030154[cell differentiation] GO:0030878[thyroid gland development] GO:0038194[thyroid-stimulating hormone signaling pathway] GO:0039003[pronephric field specification] GO:0042472[inner ear morphogenesis] GO:0042981[regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048793[pronephros development] GO:0048856[anatomical structure development] GO:0071371[cellular response to gonadotropin stimulus] GO:0071599[otic vesicle development] GO:0072108[positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0072207[metanephric epithelium development] GO:0072221[metanephric distal convoluted tubule development] GO:0072278[metanephric comma-shaped body morphogenesis] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072289[metanephric nephron tubule formation] GO:0072305[negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis] GO:0072307[regulation of metanephric nephron tubule epithelial cell differentiation] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:1900212[negative regulation of mesenchymal cell apoptotic process involved in metanephros development] GO:1900215[negative regulation of apoptotic process involved in metanephric collecting duct development] GO:1900218[negative regulation of apoptotic process involved in metanephric nephron tubule development] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000594[positive regulation of metanephric DCT cell differentiation] GO:2000611[positive regulation of thyroid hormone generation] GO:2000612[regulation of thyroid-stimulating hormone secretion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001655[urogenital system development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0001823[mesonephros development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004996[thyroid-stimulating hormone receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0009653[anatomical structure morphogenesis] GO:0030154[cell differentiation] GO:0030878[thyroid gland development] GO:0038194[thyroid-stimulating hormone signaling pathway] GO:0039003[pronephric field specification] GO:0042472[inner ear morphogenesis] GO:0042981[regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048793[pronephros development] GO:0048856[anatomical structure development] GO:0071371[cellular response to gonadotropin stimulus] GO:0071599[otic vesicle development] GO:0072108[positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0072207[metanephric epithelium development] GO:0072221[metanephric distal convoluted tubule development] GO:0072278[metanephric comma-shaped body morphogenesis] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072289[metanephric nephron tubule formation] GO:0072305[negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis] GO:0072307[regulation of metanephric nephron tubule epithelial cell differentiation] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:1900212[negative regulation of mesenchymal cell apoptotic process involved in metanephros development] GO:1900215[negative regulation of apoptotic process involved in metanephric collecting duct development] GO:1900218[negative regulation of apoptotic process involved in metanephric nephron tubule development] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000594[positive regulation of metanephric DCT cell differentiation] GO:2000611[positive regulation of thyroid hormone generation] GO:2000612[regulation of thyroid-stimulating hormone secretion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001655[urogenital system development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0001823[mesonephros development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004996[thyroid-stimulating hormone receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0009653[anatomical structure morphogenesis] GO:0030154[cell differentiation] GO:0030878[thyroid gland development] GO:0038194[thyroid-stimulating hormone signaling pathway] GO:0039003[pronephric field specification] GO:0042472[inner ear morphogenesis] GO:0042981[regulation of apoptotic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048793[pronephros development] GO:0048856[anatomical structure development] GO:0071371[cellular response to gonadotropin stimulus] GO:0071599[otic vesicle development] GO:0072108[positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0072207[metanephric epithelium development] GO:0072221[metanephric distal convoluted tubule development] GO:0072278[metanephric comma-shaped body morphogenesis] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072289[metanephric nephron tubule formation] GO:0072305[negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis] GO:0072307[regulation of metanephric nephron tubule epithelial cell differentiation] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:1900212[negative regulation of mesenchymal cell apoptotic process involved in metanephros development] GO:1900215[negative regulation of apoptotic process involved in metanephric collecting duct development] GO:1900218[negative regulation of apoptotic process involved in metanephric nephron tubule development] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000594[positive regulation of metanephric DCT cell differentiation] GO:2000611[positive regulation of thyroid hormone generation] GO:2000612[regulation of thyroid-stimulating hormone secretion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001655[urogenital system development] GO:0001656[metanephros development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001822[kidney development] GO:0001823[mesonephros development] GO:0003281[ventricular septum development] GO:0003337[mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0004996[thyroid-stimulating hormone receptor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006790[sulfur compound metabolic process] GO:0007417[central nervous system development] GO:0009653[anatomical structure morphogenesis] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0030154[cell differentiation] GO:0030855[epithelial cell differentiation] GO:0030878[thyroid gland development] GO:0038194[thyroid-stimulating hormone signaling pathway] GO:0039003[pronephric field specification] GO:0042472[inner ear morphogenesis] GO:0042981[regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048793[pronephros development] GO:0048856[anatomical structure development] GO:0071371[cellular response to gonadotropin stimulus] GO:0071599[otic vesicle development] GO:0072050[S-shaped body morphogenesis] GO:0072073[kidney epithelium development] GO:0072108[positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis] GO:0072164[mesonephric tubule development] GO:0072207[metanephric epithelium development] GO:0072221[metanephric distal convoluted tubule development] GO:0072278[metanephric comma-shaped body morphogenesis] GO:0072284[metanephric S-shaped body morphogenesis] GO:0072289[metanephric nephron tubule formation] GO:0072305[negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis] GO:0072307[regulation of metanephric nephron tubule epithelial cell differentiation] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:1900212[negative regulation of mesenchymal cell apoptotic process involved in metanephros development] GO:1900215[negative regulation of apoptotic process involved in metanephric collecting duct development] GO:1900218[negative regulation of apoptotic process involved in metanephric nephron tubule development] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000594[positive regulation of metanephric DCT cell differentiation] GO:2000611[positive regulation of thyroid hormone generation] GO:2000612[regulation of thyroid-stimulating hormone secretion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases
A0A140TA56 [Direct mapping] Paired box protein Pax-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases
A0A7P0T907 [Direct mapping] Paired box protein Pax-8
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Endocrine and metabolic diseases Thyroid gland diseases