PCDH8 protocadherin 8 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 13q14.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (52842889..52848640, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (52058334..52064085, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (53417024..53422775, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PCDH8_2439 (e-PCR)
- UniSTS:280893

WI-15460 (e-PCR)
- UniSTS:20549

RH122610 (e-PCR)
- UniSTS:135055

SHGC-84189 (e-PCR)
- UniSTS:104685

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)

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
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