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
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
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
16
HUMAN PROTEIN ATLAS INFORMATIONi
Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.
Tissue specificity HPA (aggregated)i
The aggregated tissue specificity category corresponds to the combined unique specificity categories of all individual isoforms for the gene, based on HPA RNA-seq data
The aggregated tissue specificity category corresponds to the combined unique specificity categories of all individual isoforms for the gene, based on GTEx RNA-seq data.
The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.
Cerebellum - Synaptic function (mainly)
Expression category (HPA)i
The expression category reflects the overall expression pattern for the gene based on expression profiles for all individual isoforms.
The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.
Group enriched (Brain, Parathyroid gland, Pituitary gland, Retina)
TRANSCRIPT OVERVIEW
RNA ISOFORM EXPRESSION (HPA)
Expression
Predicted location
Organ
Expression
Alphabetical
Expression: dominant isoform, some expressed Specificity: enhanced;enriched
RNA ISOFORM EXPRESSION (GTEx)
Expression
Predicted location
Organ
Expression
Alphabetical
Expression: dominant isoform, many expressed Specificity: enhanced;enriched
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 Disease related genes Human disease related genes Mapped to neXtProt Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Human disease related genes Protein evidence (Ezkurdia et al 2014)
1025 aa
112.6 kDa
No
0
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The Human Protein Atlas project is funded
