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PCDH15
HPA
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  • PCDH15
STRUCTURE & INTERACTION STRUCTURE
Protein structures
Protein interactions
Human metabolism
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.

PCDH15
Synonyms CDHR15, DFNB23, USH1F
Gene descriptioni

Full gene name according to HGNC.

Protocadherin related 15
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
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.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

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.

Oligodendrocyte precursor - Unknown function (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.

Cell type enriched (Oligodendrocyte precursor cells)
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.

Retina - Visual perception (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.

Group enriched (Adrenal gland, Retina)
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Vesicles, Plasma membrane In addition localized to the Nucleoplasm, Golgi apparatus, Focal adhesion sites
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 10
Cytoband q21.1
Chromosome location (bp) 53802771 - 55627942
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

24
Ensembl ENSG00000150275 (version 109)
Entrez gene 65217
HGNC HGNC:14674
UniProt Q96QU1 (UniProt - Evidence at protein level)
neXtProt NX_Q96QU1
GeneCards PCDH15
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
PCDH15-201
PCDH15-202
PCDH15-203
PCDH15-205
PCDH15-206
PCDH15-207
PCDH15-208
PCDH15-209
PCDH15-210
PCDH15-211
PCDH15-212
PCDH15-213
PCDH15-215
PCDH15-217
PCDH15-220
PCDH15-221
PCDH15-222
PCDH15-223
PCDH15-224
PCDH15-225
PCDH15-226
PCDH15-227
PCDH15-228
PCDH15-229
»

Description:

Color scheme:
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Autorotate:
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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.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PCDH15-201
Q96QU1
Show all
Predicted membrane proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Show all
1955 aa
216.1 kDa
Yes 1
PCDH15-202
A2A3E7
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1957 aa
216.3 kDa
Yes 1
PCDH15-203
Q96QU1
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Show all
961 aa
106.6 kDa
Yes 0
PCDH15-205
A2A3D8
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1962 aa
217.1 kDa
Yes 1
PCDH15-206
A9Z1W1
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1677 aa
186.2 kDa
Yes 1
PCDH15-207
A2A3E6
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1952 aa
215.7 kDa
Yes 1
PCDH15-208
A2A3E8
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1932 aa
213.7 kDa
Yes 1
PCDH15-209
A2A3E5
Show all
Predicted intracellular proteins
Human disease related genes
Show all
719 aa
80.7 kDa
Yes 0
PCDH15-210
A2A3E1
Show all
Predicted intracellular proteins
Human disease related genes
Show all
650 aa
73.2 kDa
Yes 0
PCDH15-211
Q96QU1
Show all
Predicted membrane proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Show all
1783 aa
197.9 kDa
Yes 1
PCDH15-212
A2A3E4
Show all
Predicted intracellular proteins
Human disease related genes
Show all
981 aa
109.6 kDa
Yes 0
PCDH15-213
B7ZBT8
Show all
Predicted membrane proteins
Human disease related genes
Show all
1150 aa
127.3 kDa
No 1
PCDH15-215
E7EM53
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1886 aa
208.4 kDa
Yes 1
PCDH15-217
A2A3D9
Show all
Predicted intracellular proteins
Human disease related genes
Show all
92 aa
10.1 kDa
Yes 0
PCDH15-220
A0A087WX70
Show all
Predicted membrane proteins
Human disease related genes
Show all
416 aa
47.1 kDa
No 1
PCDH15-221
A0A087WXQ6
Show all
Predicted intracellular proteins
Human disease related genes
Show all
72 aa
8.1 kDa
Yes 0
PCDH15-222
A0A087WZN9
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1790 aa
198.9 kDa
Yes 1
PCDH15-223
A0A087WUC7
Show all
Predicted intracellular proteins
Human disease related genes
Show all
37 aa
4.5 kDa
No 0
PCDH15-224
Q96QU1
Show all
Predicted membrane proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Show all
1675 aa
186 kDa
Yes 1
PCDH15-225
A0A087WTR6
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1539 aa
171.3 kDa
Yes 1
PCDH15-226
A0A087WZN4
Show all
Predicted membrane proteins
Human disease related genes
Show all
460 aa
51.5 kDa
No 1
PCDH15-227
A0A087X1T6
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Show all
1682 aa
186.9 kDa
Yes 1
PCDH15-228
A0A2R8YEV2
Show all
Predicted membrane proteins
Human disease related genes
Show all
1360 aa
150.8 kDa
No 1
PCDH15-229
A0A2R8Y6C0
Show all
Predicted membrane proteins
Human disease related genes
Show all
1740 aa
193.6 kDa
Yes 1
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Retina - Visual perception

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
PCDH15 has no defined protein interactions in Consensus.
PCDH15 has no defined protein interactions in IntAct.
PCDH15 has no defined protein interactions in BioGrid.
PCDH15 has no defined protein interactions in OpenCell.
PCDH15 has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

PCDH15 is not a metabolic protein

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