Single cell type - GBA2 - The Human Protein Atlas

GENERAL INFORMATIONⁱ 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.	GBA2
Gene descriptionⁱ Full gene name according to HGNC.	Glucosylceramidase beta 2
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes Enzymes Human disease related genes Metabolic 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. Read more	Intracellular
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	3

HUMAN PROTEIN ATLAS INFORMATIONⁱ Summary of RNA expression and protein localization based on 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. Read more	Photoreceptor cells - Phototransduction (mainly)
Single cell type specificityⁱ 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. Read more	Cell type enhanced (Cone photoreceptor cells, Rod photoreceptor cells)
Immune cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Low immune cell specificity
Immune cell distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in all
Cell line specificityⁱ RNA specificity category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines. Read more	Low cell line specificity
Cell line distributionⁱ RNA distribution category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into five different categories (detected in all, detected in many, detected in some, detected in single and not detected) according to their pattern of detected RNA expression across the panel of cell lines. Read more	Detected in all
Protein evidenceⁱ Evidence score for genes based on UniProt protein existence (UniProt evidence); a Human Protein Atlas antibody- or RNA based score (HPA evidence); and evidence based on PeptideAtlas (MS evidence). The avaliable scores are evidence at protein level, evidence at transcript level, no evidence, or not avaliable. Read more	Evidence at protein level

SINGLE CELL TYPESⁱ A summary of single cell RNA (nTPM) from all single cell types. Color-coding is based on cell type groups, each consisting of cell types with functional features in common.
Single cell types Group Expression Alphabetical RNA single cell type specificity: Cell type enhanced (Cone photoreceptor cells, Rod photoreceptor cells)

SINGLE CELL TISSUES OVERVIEWⁱ An overview of all tissues where single cell type expression has been analyzed. Each tissue name and corresponding UMAP plot is clickable and redirects to the selected tissue.
Adipose tissue Bone marrow Brain Breast Bronchus Colon Endometrium Esophagus Eye Heart muscle Kidney Liver Lung Lymph node Ovary Pancreas Placenta Prostate Rectum Skeletal muscle Skin Small intestine Spleen Stomach Testis

EXPRESSION CLUSTERING & CORRELATIONⁱ

GBA2 is part of cluster 9 Photoreceptor cells - Phototransduction with confidenceⁱ 0.93
227 genes in cluster

Go to interactive expression cluster page

15 nearest neighbours based on single cell type RNA expression

Neighbourⁱ Gene name according to HGNC.	Descriptionⁱ Gene description according to HGNC.	Correlationⁱ Correlation between the selected gene and neighboring gene. Correlation is calculated as Spearman correlation in PCA space based on the RNA-seq expression data. Read more	Clusterⁱ ID of the expression cluster of the neighboring gene. Read more
PPARGC1B	PPARG coactivator 1 beta	0.5750	56
KBTBD11	Kelch repeat and BTB domain containing 11	0.5738	45
CC2D1A	Coiled-coil and C2 domain containing 1A	0.5649	53
RDH5	Retinol dehydrogenase 5	0.5571	45
RGS11	Regulator of G protein signaling 11	0.5515	9
TRPV1	Transient receptor potential cation channel subfamily V member 1	0.5495	46
SHPK	Sedoheptulokinase	0.5462	45
SPHK2	Sphingosine kinase 2	0.5128	9
KIF1B	Kinesin family member 1B	0.4957	9
ENGASE	Endo-beta-N-acetylglucosaminidase	0.4937	53
HNF4G	Hepatocyte nuclear factor 4 gamma	0.4899	45
FLVCR1	FLVCR heme transporter 1	0.4867	45
SLC12A5	Solute carrier family 12 member 5	0.4840	9
UGT2A3	UDP glucuronosyltransferase family 2 member A3	0.4808	45
RHOT2	Ras homolog family member T2	0.4807	9

SINGLE CELL TISSUESⁱ Single cell RNA levels of annotated cell type clusters are shown separately for each analyzed tissue. For easier navigation across tissues, use the above Single cell tissue overview, where each tissue name and UMAP plot is clickable and redirects to the selected tissue, alternatively the grey browser on the left side of the window. Barchart shows nTPM levels in each annotated cluster of single cells. To the left, a UMAP plot illustrates the RNA expression profile. The tissue name and plots are clickable and redirect to a more detailed interactive page. Color-coding is based on cell type groups, each consisting of cell types with functional features in common. Please note that the same cell type may be found in several clusters.
Cluster Expression Alphabetical Adipose tissue
Cluster Expression Alphabetical Bone marrow
Cluster Expression Alphabetical Brain
Cluster Expression Alphabetical Breast
Cluster Expression Alphabetical Bronchus
Cluster Expression Alphabetical Colon
Cluster Expression Alphabetical Endometrium
Cluster Expression Alphabetical Esophagus
Cluster Expression Alphabetical Eye
Cluster Expression Alphabetical Heart muscle
Cluster Expression Alphabetical Kidney
Cluster Expression Alphabetical Liver
Cluster Expression Alphabetical Lung
Cluster Expression Alphabetical Lymph node
Cluster Expression Alphabetical Ovary
Cluster Expression Alphabetical Pancreas
Cluster Expression Alphabetical Placenta
Cluster Expression Alphabetical Prostate
Cluster Expression Alphabetical Rectum
Cluster Expression Alphabetical Skeletal muscle
Cluster Expression Alphabetical Skin
Cluster Expression Alphabetical Small intestine
Cluster Expression Alphabetical Spleen
Cluster Expression Alphabetical Stomach
Cluster Expression Alphabetical Testis

BLOODⁱ

Single cell data

Cluster

Expression

Alphabetical

PBMC

Flow sorted data

Lineage

Expression

Alphabetical

CELL LINESⁱ

Organ

Expression

Alphabetical

Adipocytes	12.7 nTPM
Adipose tissue	15.2 nTPM
Breast	10.3 nTPM

Alveolar cells type 1	12.8 nTPM
Lung	12.8 nTPM

Alveolar cells type 2	8.0 nTPM
Lung	8.0 nTPM

Astrocytes	45.1 nTPM
Brain	45.1 nTPM

B-cells	11.2 nTPM
Breast	17.3 nTPM
Kidney	14.3 nTPM
PBMC	14.3 nTPM
Liver	11.8 nTPM
Spleen	10.4 nTPM
Stomach	10.0 nTPM
Lymph node	9.8 nTPM
Bone marrow	9.8 nTPM
Adipose tissue	9.6 nTPM
Colon	4.8 nTPM

Dendritic cells	16.6 nTPM
PBMC	20.0 nTPM
Breast	14.9 nTPM
Adipose tissue	14.8 nTPM

Endothelial cells	16.0 nTPM
Lung	34.3 nTPM
Eye	25.9 nTPM
Ovary	22.0 nTPM
Prostate	21.1 nTPM
Liver	15.6 nTPM
Endometrium	15.2 nTPM
Placenta	14.8 nTPM
Skeletal muscle	14.6 nTPM
Testis	14.2 nTPM
Heart muscle	10.5 nTPM
Breast	10.1 nTPM
Esophagus	9.8 nTPM
Skin	8.3 nTPM
Pancreas	7.7 nTPM

Fibroblasts	8.0 nTPM
Ovary	13.2 nTPM
Prostate	9.8 nTPM
Placenta	9.0 nTPM
Adipose tissue	9.0 nTPM
Heart muscle	8.9 nTPM
Breast	8.7 nTPM
Skeletal muscle	7.8 nTPM
Skin	6.7 nTPM
Esophagus	6.0 nTPM
Lung	5.6 nTPM
Stomach	3.0 nTPM

Intestinal goblet cells	35.8 nTPM
Small intestine	38.1 nTPM
Colon	36.4 nTPM
Rectum	33.0 nTPM

Macrophages	10.7 nTPM
Spleen	18.6 nTPM
Esophagus	15.8 nTPM
Prostate	13.8 nTPM
Testis	13.4 nTPM
Breast	13.0 nTPM
Skeletal muscle	12.6 nTPM
Kidney	12.0 nTPM
Adipose tissue	12.0 nTPM
Ovary	11.7 nTPM
Bone marrow	8.7 nTPM
Endometrium	8.2 nTPM
Pancreas	7.7 nTPM
Lung	6.5 nTPM
Stomach	5.9 nTPM
PBMC	0.0 nTPM

Paneth cells	57.6 nTPM
Colon	69.2 nTPM
Small intestine	60.1 nTPM
Rectum	43.4 nTPM

Plasma cells	11.7 nTPM
Spleen	16.3 nTPM
Adipose tissue	16.1 nTPM
Bone marrow	14.8 nTPM
Stomach	11.1 nTPM
Esophagus	0.0 nTPM

Respiratory ciliated cells	17.9 nTPM
Lung	23.3 nTPM
Bronchus	12.5 nTPM

Smooth muscle cells	12.2 nTPM
Ovary	17.7 nTPM
Adipose tissue	17.2 nTPM
Heart muscle	15.9 nTPM
Prostate	13.1 nTPM
Esophagus	12.4 nTPM
Breast	12.2 nTPM
Skeletal muscle	12.0 nTPM
Endometrium	10.2 nTPM
Skin	9.0 nTPM
Pancreas	7.6 nTPM
Bronchus	6.5 nTPM

T-cells	9.4 nTPM
Ovary	17.8 nTPM
Liver	17.4 nTPM
Colon	13.8 nTPM
Breast	11.7 nTPM
Bone marrow	10.7 nTPM
Skin	10.5 nTPM
PBMC	9.7 nTPM
Skeletal muscle	9.7 nTPM
Kidney	9.6 nTPM
Endometrium	8.5 nTPM
Lung	7.6 nTPM
Adipose tissue	7.6 nTPM
Stomach	7.4 nTPM
Spleen	7.2 nTPM
Lymph node	6.7 nTPM
Prostate	4.7 nTPM
Esophagus	0.0 nTPM

Basal prostatic cells	18.2 nTPM
Prostate	18.2 nTPM

Basal squamous epithelial cells	6.2 nTPM
Esophagus	6.2 nTPM

Collecting duct cells	27.6 nTPM
Kidney	27.6 nTPM

Distal enterocytes	71.7 nTPM
Rectum	73.5 nTPM
Colon	69.8 nTPM

Undifferentiated cells	41.4 nTPM
Small intestine	43.3 nTPM
Colon	42.3 nTPM
Rectum	38.8 nTPM

Adipose tissue

Bone marrow

Brain

Breast

Bronchus

Colon

Endometrium

Esophagus

Eye

Heart muscle

Kidney

Liver

Lung

Lymph node

Ovary

Pancreas

Placenta

Prostate

Rectum

Skeletal muscle

Skin

Small intestine

Spleen

Stomach

Testis

PBMC