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Aliases for PCDH8 Gene

Aliases for PCDH8 Gene

  • Protocadherin 8 2 3 5
  • ARCADLIN 3 4
  • Protocadherin-8 3
  • PAPC 3

External Ids for PCDH8 Gene

Previous GeneCards Identifiers for PCDH8 Gene

  • GC13M051385
  • GC13M047413
  • GC13M052354
  • GC13M051216
  • GC13M052316
  • GC13M053418
  • GC13M034132

Summaries for PCDH8 Gene

Entrez Gene Summary for PCDH8 Gene

  • This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDH8 Gene

PCDH8 (Protocadherin 8) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH18.

UniProtKB/Swiss-Prot for PCDH8 Gene

  • Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity).

Gene Wiki entry for PCDH8 Gene

Additional gene information for PCDH8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDH8 Gene

Genomics for PCDH8 Gene

GeneHancer (GH) Regulatory Elements for PCDH8 Gene

Promoters and enhancers for PCDH8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I052848 Promoter/Enhancer 1 EPDnew ENCODE 550.8 0.0 -40 0.2 CTCF MXI1 POLR2A ZBTB26 PRDM1 EZH2 ZBTB17 PCDH8 GC13M052802
GH13I052847 Enhancer 0.6 ENCODE 550.8 +1.5 1500 0.1 CTCF SUZ12 MAX SIN3A REST ETS1 CTBP2 ZNF143 EZH2 PCDH8 PPIAP26 GC13M052802
GH13I052896 Enhancer 0.5 ENCODE 11.2 -48.6 -48576 0.9 CTCF POLR2A TRIM22 ZNF143 ZNF384 REST RAD21 PCDH8 PPIAP26 GC13M052802
GH13I052850 Enhancer 1.1 Ensembl ENCODE 0.8 -2.5 -2528 2.2 PKNOX1 ARID4B SIN3A IRF4 ZNF48 ETS1 SLC30A9 GLIS2 ZNF143 RUNX3 PCDH8 GC13M052802
GH13I053336 Enhancer 0.2 FANTOM5 3.6 -488.2 -488229 0.1 PCDH8 ENSG00000273919 RN7SL618P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCDH8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDH8 gene promoter:

Genomic Locations for PCDH8 Gene

Genomic Locations for PCDH8 Gene
5,753 bases
Minus strand

Genomic View for PCDH8 Gene

Genes around PCDH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH8 Gene

Proteins for PCDH8 Gene

  • Protein details for PCDH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DMV7
    • Q5TAN1
    • Q5TAN2
    • Q8IYE9
    • Q96SF1

    Protein attributes for PCDH8 Gene

    1070 amino acids
    Molecular mass:
    113019 Da
    Quaternary structure:
    • The N-terminal extracellular domain forms homophilic interactions; these interactions activate p38 MAPK via TAOK2 and trigger endocytosis. Interacts with CDH2; this interaction may lead to CDH2 cointernalization. Interacts with CDH11. Interacts with TAOK2.
    • Sequence=BAG60019.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for PCDH8 Gene


neXtProt entry for PCDH8 Gene

Post-translational modifications for PCDH8 Gene

  • Glycosylation at Asn70, Asn464, and isoforms=2616
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDH8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDH8 Gene

Domains & Families for PCDH8 Gene

Gene Families for PCDH8 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for PCDH8 Gene

Suggested Antigen Peptide Sequences for PCDH8 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDH8: view

No data available for UniProtKB/Swiss-Prot for PCDH8 Gene

Function for PCDH8 Gene

Molecular function for PCDH8 Gene

GENATLAS Biochemistry:
BH protocadherin 8,cadherin-related neuronal receptor,predominantly expressed in brain,localizing to synaptic junctions and putatively involved in specific neuronal connections and signal transduction,cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
UniProtKB/Swiss-Prot Function:
Calcium-dependent cell-adhesion protein (By similarity). May play a role in activity-induced synaptic reorganization underlying long term memory (By similarity). Could be involved in CDH2 internalization through TAOK2/p38 MAPK pathway. In hippocampal neurons, may play a role in the down-regulation of dendritic spines, maybe through its action on CDH2 endocytosis (By similarity).

Phenotypes From GWAS Catalog for PCDH8 Gene

Gene Ontology (GO) - Molecular Function for PCDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDH8: view
genes like me logo Genes that share phenotypes with PCDH8: view

Animal Models for PCDH8 Gene

MGI Knock Outs for PCDH8:

Animal Model Products

CRISPR Products

miRNA for PCDH8 Gene

miRTarBase miRNAs that target PCDH8

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCDH8 Gene

Localization for PCDH8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH8 Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, dendrite. Cell junction, synapse, presynaptic cell membrane. Cell junction, synapse, postsynaptic cell membrane. Note=Also expressed in neuronal cell bodies. Localized to excitatory, but not with inhibitory, synapses. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCDH8 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS 9787079
GO:0005887 integral component of plasma membrane TAS 9787079
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PCDH8: view

Pathways & Interactions for PCDH8 Gene

SuperPathways for PCDH8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0007155 cell adhesion IBA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling TAS 9787079
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with PCDH8: view

No data available for Pathways by source and SIGNOR curated interactions for PCDH8 Gene

Drugs & Compounds for PCDH8 Gene

(1) Drugs for PCDH8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with PCDH8: view

Transcripts for PCDH8 Gene

mRNA/cDNA for PCDH8 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PCDH8 Gene

Protocadherin 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c
SP1: -
SP2: - -

Relevant External Links for PCDH8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCDH8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDH8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCDH8 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x7.7), Brain - Anterior cingulate cortex (BA24) (x7.0), Brain - Frontal Cortex (BA9) (x6.7), Brain - Hippocampus (x5.6), Brain - Caudate (basal ganglia) (x5.2), and Brain - Cortex (x5.2).

Protein differential expression in normal tissues from HIPED for PCDH8 Gene

This gene is overexpressed in Adipocyte (56.3) and Heart (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDH8 Gene

Protein tissue co-expression partners for PCDH8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDH8 Gene:


SOURCE GeneReport for Unigene cluster for PCDH8 Gene:


Evidence on tissue expression from TISSUES for PCDH8 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PCDH8: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDH8 Gene

Orthologs for PCDH8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDH8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCDH8 33 34
  • 99.52 (n)
(Canis familiaris)
Mammalia PCDH8 33 34
  • 91.71 (n)
(Bos Taurus)
Mammalia PCDH8 33 34
  • 90.14 (n)
(Mus musculus)
Mammalia Pcdh8 33 16 34
  • 87.86 (n)
(Rattus norvegicus)
Mammalia Pcdh8 33
  • 87.31 (n)
(Monodelphis domestica)
Mammalia PCDH8 34
  • 50 (a)
(Gallus gallus)
Aves PCDH8 34 33
  • 71.4 (n)
(Anolis carolinensis)
Reptilia PCDH8 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh8 33
  • 64.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52553 33
(Danio rerio)
Actinopterygii LOC100002026 33
  • 52.93 (n)
pcdh8 33 34
  • 38 (a)
Species where no ortholog for PCDH8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDH8 Gene

Gene Tree for PCDH8 (if available)
Gene Tree for PCDH8 (if available)

Paralogs for PCDH8 Gene

Variants for PCDH8 Gene

Sequence variations from dbSNP and Humsavar for PCDH8 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
VAR_036108 A breast cancer sample p.Lys956Asn
rs1000022179 -- 52,846,341(-) G/A/C coding_sequence_variant, missense_variant
rs1000190284 -- 52,845,444(-) G/A coding_sequence_variant, synonymous_variant
rs1000633573 -- 52,843,775(-) T/G downstream_transcript_variant
rs1000723541 -- 52,845,723(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCDH8 Gene

Variant ID Type Subtype PubMed ID
dgv3150n54 CNV loss 21841781
dgv3151n54 CNV loss 21841781
dgv3152n54 CNV gain+loss 21841781
dgv3153n54 CNV loss 21841781
esv29405 CNV loss 19812545
nsv1141930 OTHER inversion 24896259
nsv455889 CNV loss 19166990
nsv523092 CNV loss 19592680
nsv561661 CNV loss 21841781
nsv561667 CNV gain 21841781
nsv561669 CNV loss 21841781

Variation tolerance for PCDH8 Gene

Residual Variation Intolerance Score: 60.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.29; 85.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDH8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH8 Gene

Disorders for PCDH8 Gene

Additional Disease Information for PCDH8

No disorders were found for PCDH8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDH8 Gene

Publications for PCDH8 Gene

  1. Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14. (PMID: 9787079) Strehl S … Lalande M (Genomics 1998) 2 3 4 22 58
  2. Screening the human protocadherin 8 (PCDH8) gene in schizophrenia. (PMID: 12884975) Bray NJ … Owen MJ (Genes, brain, and behavior 2002) 3 4 22 58
  3. PCDH8, the human homolog of PAPC, is a candidate tumor suppressor of breast cancer. (PMID: 18408767) Yu JS … Parsons R (Oncogene 2008) 3 22 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. (PMID: 11230163) Wu Q … Maniatis T (Genome research 2001) 3 4 58

Products for PCDH8 Gene

Sources for PCDH8 Gene

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