PCDH8

Protein-coding gene in the species Homo sapiens
PCDH8
Identifiers
AliasesPCDH8, ARCADLIN, PAPC, protocadherin 8
External IDsOMIM: 603580; MGI: 1306800; HomoloGene: 1943; GeneCards: PCDH8; OMA:PCDH8 - orthologs
Gene location (Human)
Chromosome 13 (human)
Chr.Chromosome 13 (human)[1]
Chromosome 13 (human)
Genomic location for PCDH8
Genomic location for PCDH8
Band13q14.3Start52,842,889 bp[1]
End52,848,641 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for PCDH8
Genomic location for PCDH8
Band14 D3|14 42.76 cMStart80,004,215 bp[2]
End80,008,752 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Brodmann area 23

  • frontal pole

  • endothelial cell

  • middle temporal gyrus

  • Brodmann area 10

  • dorsolateral prefrontal cortex

  • primary visual cortex

  • Brodmann area 9

  • superior frontal gyrus

  • nucleus accumbens
Top expressed in
  • anterior amygdaloid area

  • lateral septal nucleus

  • substantia nigra

  • subiculum

  • Region I of hippocampus proper

  • superior colliculus

  • dorsomedial hypothalamic nucleus

  • ventral tegmental area

  • paraventricular nucleus of hypothalamus

  • lateral hypothalamus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • cell projection
  • cell junction
  • postsynaptic membrane
  • plasma membrane
  • membrane
  • presynaptic membrane
  • integral component of membrane
  • synapse
  • dendrite
  • integral component of plasma membrane
  • glutamatergic synapse
  • integral component of postsynaptic membrane
Biological process
  • morphogenesis of embryonic epithelium
  • somitogenesis
  • chemical synaptic transmission
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • cell-cell signaling
  • cell adhesion
  • nervous system development
  • regulation of synaptic membrane adhesion
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5100

18530

Ensembl

ENSG00000136099

ENSMUSG00000036422

UniProt

O95206

Q7TSK3

RefSeq (mRNA)

NM_032949
NM_002590

NM_001042726
NM_021543

RefSeq (protein)

NP_002581
NP_116567

NP_001036191
NP_067518

Location (UCSC)Chr 13: 52.84 – 52.85 MbChr 14: 80 – 80.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin-8 is a protein that in humans is encoded by the PCDH8 gene.[5][6][7]

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.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136099 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036422 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Strehl S, Glatt K, Liu QM, Glatt H, Lalande M (Dec 1998). "Characterization of two novel protocadherins (PCDH8 and PCDH9) localized on human chromosome 13 and mouse chromosome 14". Genomics. 53 (1): 81–9. doi:10.1006/geno.1998.5467. PMID 9787079.
  6. ^ Strehl S, LaSalle JM, Lalande M (Oct 1997). "High-resolution analysis of DNA replication domain organization across an R/G-band boundary". Mol Cell Biol. 17 (10): 6157–66. doi:10.1128/MCB.17.10.6157. PMC 232466. PMID 9315676.
  7. ^ a b "Entrez Gene: PCDH8 protocadherin 8".

Further reading

  • Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169. PMID 10817752. S2CID 44844497.
  • Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
  • Wu Q, Maniatis T (1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929. S2CID 6014717.
  • Yamagata K, Andreasson KI, Sugiura H, et al. (1999). "Arcadlin is a neural activity-regulated cadherin involved in long term potentiation". J. Biol. Chem. 274 (27): 19473–1979. doi:10.1074/jbc.274.27.19473. PMID 10383464.
  • Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
  • Wu Q, Zhang T, Cheng JF, et al. (2001). "Comparative DNA Sequence Analysis of Mouse and Human Protocadherin Gene Clusters". Genome Res. 11 (3): 389–404. doi:10.1101/gr.167301. PMC 311048. PMID 11230163.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Bray NJ, Kirov G, Owen RJ, et al. (2003). "Screening the human protocadherin 8 (PCDH8) gene in schizophrenia". Genes, Brain and Behavior. 1 (3): 187–91. doi:10.1034/j.1601-183X.2002.10307.x. PMID 12884975.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.


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