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).
Citric acid cycle related proteins Disease related genes Enzymes Essential proteins Housekeeping proteins Human disease related genes Metabolic proteins Plasma proteins Potential drug targets
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.
Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.
Single cell type expression clusteri
The RNA data was used to cluster genes according to their expression across single cell types. 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.
The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.
Low cell type specificity
Tissue expression cluster (RNA)i
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.
Non-specific - Cellular respiration (mainly)
Tissue specificity (RNA)i
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.
Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.
Localized to the Mitochondria
Secretome annotationi
All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:
secreted into blood
locally secreted
or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.
Not available
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
22
Cytoband
q13.2
Chromosome location (bp)
41447830 - 41529273
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Explore the associated metabolic reactions and metabolites across human cell types and cell type groups, including their number in each cell-type model and their distribution across metabolic subsystems or cellular compartments. The toggles switch between cell type groups and cell types, subsystems and compartments, and reactions and metabolites. This overview shows whether the gene is part of the metabolic models of most cell types or only a few, and in which pathways and compartments it is involved. Differences in bar height indicate that the gene contributes to a different number of reactions in different cell types, and the compartment view can be compared with the protein's subcellular location in the Subcellular resource.
ACO2 is part of the metabolic models of 54 of 54 cell type groups and 154 of 155 cell types. In the cell types it is associated with 2 reactions in 1 subsystem, and present in the compartment Mitochondria.
Cell type groups
Cell types
Subsystems
Compartments
# Reactions
# Metabolites
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The Human Protein Atlas project is funded
