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PCDH8 protocadherin 8 [ Homo sapiens (human) ]

Gene ID: 5100, updated on 2-May-2024

Summary

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Official Symbol
PCDH8provided by HGNC
Official Full Name
protocadherin 8provided by HGNC
Primary source
HGNC:HGNC:8660
See related
Ensembl:ENSG00000136099 MIM:603580; AllianceGenome:HGNC:8660
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAPC; ARCADLIN
Summary
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]
Expression
Biased expression in brain (RPKM 2.9), testis (RPKM 0.5) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
13q14.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (52842889..52848640, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (52058334..52064085, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (53417024..53422775, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:53412585-53413086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:53413087-53413586 Neighboring gene microRNA 759 Neighboring gene peptidylprolyl isomerase A pseudogene 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:53420960-53421848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:53421849-53422738 Neighboring gene Sharpr-MPRA regulatory region 8019 Neighboring gene Sharpr-MPRA regulatory region 8029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7796 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:53453690-53454319 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:53454320-53454948 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:53480206-53480776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:53499618-53500118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:53530858-53531358 Neighboring gene olfactomedin 4 Neighboring gene long intergenic non-protein coding RNA 1065

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. PCDH8 participates in the growth process of colorectal cancer cells by regulating the AKT/GSK3β/β-catenin signaling pathway. Wu S, et al. Tissue Cell, 2022 Oct. PMID 35907345
  2. Protocadherin 8 (PCDH8) Inhibits Proliferation, Migration, Invasion, and Angiogenesis in Esophageal Squamous Cell Carcinoma. Yu H, et al. Med Sci Monit, 2020 Apr 24. PMID 32330123, Free PMC Article
  3. Expression of protocadherin8: Function as a tumor suppressor in hypopharyngeal carcinoma. Li Y, et al. Cancer Biomark, 2018. PMID 29865037
  4. Low Expression of Protocadherin-8 Promotes the Progression of Ovarian Cancer. Cao Y, et al. Int J Gynecol Cancer, 2018 Feb. PMID 29324532, Free PMC Article
  5. Aberrant Promoter Methylation of Protocadherin8 (PCDH8) in Serum is a Potential Prognostic Marker for Low Gleason Score Prostate Cancer. Lin YL, et al. Med Sci Monit, 2017 Oct 13. PMID 29026066, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PCDH8 is a novel prognostic biomarker in thyroid cancer and promotes cell proliferation and viability.
    Title: PCDH8 is a novel prognostic biomarker in thyroid cancer and promotes cell proliferation and viability.
  2. PCDH8 participates in the growth process of colorectal cancer cells by regulating the AKT/GSK3beta/beta-catenin signaling pathway.
    Title: PCDH8 participates in the growth process of colorectal cancer cells by regulating the AKT/GSK3β/β-catenin signaling pathway.
  3. Protocadherin 8 (PCDH8) Inhibits Proliferation, Migration, Invasion, and Angiogenesis in Esophageal Squamous Cell Carcinoma.
    Title: Protocadherin 8 (PCDH8) Inhibits Proliferation, Migration, Invasion, and Angiogenesis in Esophageal Squamous Cell Carcinoma.
  4. Protocadherin-8 might be considered as a candidate tumor suppressor and play a crucial role in the progression of Ovarian cancer.
    Title: Low Expression of Protocadherin-8 Promotes the Progression of Ovarian Cancer.
  5. Serum downregulated miR-940 may serve as a reliable diagnostic and prognostic biomarker in breast cancer patients.
    Title: Expression of protocadherin8: Function as a tumor suppressor in hypopharyngeal carcinoma.
  6. The methylation of PCDH8 in serum is a potential predictive marker for prostate cancer patients with low Gleason score.
    Title: Aberrant Promoter Methylation of Protocadherin8 (PCDH8) in Serum is a Potential Prognostic Marker for Low Gleason Score Prostate Cancer.
  7. Study showed that high expression of PCDH8 was significantly correlated with poorer prognosis in gastric cancer (GC). Its ectopic expression in GC cells promoted invasion, migration and, metastasis; on the contrary, its knockdown inhibited invasion and migration of GC cell lines through LAMC2 regulation.
    Title: Protocadherin-8 promotes invasion and metastasis via laminin subunit γ2 in gastric cancer.
  8. PCDH8 methylation may be associated with tumor progression and poor prognosis in non-muscle invasive bladder cancer.
    Title: Clinical significance of protocadherin 8 (PCDH8) promoter methylation in non-muscle invasive bladder cancer.
  9. Promoter methylation of protocadherin8 is a frequent event in prostate cancer, and might be used as an independent prognostic factor for biochemical recurrence-free survival in patients with prostate cancer.
    Title: Promoter methylation of protocadherin8 is an independent prognostic factor for biochemical recurrence of early-stage prostate cancer.
  10. PCDH8 methylation may be a useful biomarker to predict the progression of clear cell renal cell carcinoma.
    Title: Aberrant methylation of PCDH8 is a potential prognostic biomarker for patients with clear cell renal cell carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
EBI GWAS Catalog
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
  
involved_in modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in morphogenesis of embryonic epithelium IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic membrane adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in somitogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protocadherin-8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002590.4 → NP_002581.2  protocadherin-8 isoform 1 precursor

    See identical proteins and their annotated locations for NP_002581.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF061573, AL139085, BC036025
    Consensus CDS
    CCDS9438.1
    UniProtKB/Swiss-Prot
    B4DMV7, O95206, Q5TAN1, Q5TAN2, Q8IYE9, Q96SF1
    UniProtKB/TrEMBL
    B4DEQ8, E7EWR3
    Related
    ENSP00000367177.3, ENST00000377942.7
    Conserved Domains (2) summary
    cd11304
    Location:501 → 605
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:31 → 109
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

  2. NM_032949.3 → NP_116567.1  protocadherin-8 isoform 2 precursor

    See identical proteins and their annotated locations for NP_116567.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternative splice site on exon 1, truncating the portion encoding the cytoplasmic domain. As a result, isoform 2 has a shorter cytoplasmic tail, while still sharing a C terminus with isoform 1.
    Source sequence(s)
    AF061573, AL139085, AY013873, BC036025
    Consensus CDS
    CCDS9439.1
    UniProtKB/TrEMBL
    B4DEQ8, E7EWR3
    Related
    ENSP00000341350.4, ENST00000338862.5
    Conserved Domains (2) summary
    cd11304
    Location:501 → 605
    Cadherin_repeat; Cadherin tandem repeat domain
    cl09101
    Location:31 → 109
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    52842889..52848640 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    52058334..52064085 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95206.2 GenPept UniProtKB/Swiss-Prot:O95206

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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