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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
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
p21
Chromosome location (bp)
43230851 - 43596038
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Together with methyltransferase FTSJ1, methylates the 2'-O-ribose of nucleotides at position 32 of the anticodon loop of substrate tRNAs....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
tRNA processing
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]...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.
Q6YHU6 [Direct mapping] Thyroid adenoma-associated protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0002128[tRNA nucleoside ribose methylation] GO:0005515[protein binding] GO:0030234[enzyme regulator activity] GO:0030488[tRNA methylation] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0055088[lipid homeostasis] GO:0098554[cytoplasmic side of endoplasmic reticulum membrane] GO:1901895[negative regulation of ATPase-coupled calcium transmembrane transporter activity] GO:1990845[adaptive thermogenesis]
Q6YHU6 [Direct mapping] Thyroid adenoma-associated protein
Show all
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0002128[tRNA nucleoside ribose methylation] GO:0005515[protein binding] GO:0030234[enzyme regulator activity] GO:0030488[tRNA methylation] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0055088[lipid homeostasis] GO:0098554[cytoplasmic side of endoplasmic reticulum membrane] GO:1901895[negative regulation of ATPase-coupled calcium transmembrane transporter activity] GO:1990845[adaptive thermogenesis]
Q6YHU6 [Direct mapping] Thyroid adenoma-associated protein
Show all
MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0002128[tRNA nucleoside ribose methylation] GO:0005515[protein binding] GO:0030234[enzyme regulator activity] GO:0030488[tRNA methylation] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0055088[lipid homeostasis] GO:0098554[cytoplasmic side of endoplasmic reticulum membrane] GO:1901895[negative regulation of ATPase-coupled calcium transmembrane transporter activity] GO:1990845[adaptive thermogenesis]
Q6YHU6 [Direct mapping] Thyroid adenoma-associated protein
Show all
MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002128[tRNA nucleoside ribose methylation] GO:0005515[protein binding] GO:0030234[enzyme regulator activity] GO:0030488[tRNA methylation] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0055088[lipid homeostasis] GO:0098554[cytoplasmic side of endoplasmic reticulum membrane] GO:1901895[negative regulation of ATPase-coupled calcium transmembrane transporter activity] GO:1990845[adaptive thermogenesis]