PCDH18

Protein-coding gene in the species Homo sapiens
PCDH18
Identifiers
AliasesPCDH18, PCDH68L, protocadherin 18
External IDsOMIM: 608287; MGI: 1920423; HomoloGene: 10389; GeneCards: PCDH18; OMA:PCDH18 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for PCDH18
Genomic location for PCDH18
Band4q28.3Start137,518,918 bp[1]
End137,532,494 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for PCDH18
Genomic location for PCDH18
Band3|3 CStart49,697,745 bp[2]
End49,711,774 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • stromal cell of endometrium

  • Achilles tendon

  • parietal pleura

  • lactiferous duct

  • mucosa of ileum

  • retinal pigment epithelium

  • tibia

  • placenta

  • skin of hip

  • visceral pleura
Top expressed in
  • hand

  • maxillary prominence

  • genital tubercle

  • mandibular prominence

  • dermis

  • human fetus

  • left lung lobe

  • molar

  • Gonadal ridge

  • foot
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • membrane
  • integral component of plasma membrane
Biological process
  • brain development
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • cell adhesion
  • cell-cell signaling
  • nervous system development
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

54510

73173

Ensembl

ENSG00000189184

ENSMUSG00000037892

UniProt

Q9HCL0

Q8VHR0

RefSeq (mRNA)

NM_001300828
NM_019035

NM_130448

RefSeq (protein)

NP_001287757
NP_061908

NP_569715
NP_001391291
NP_001391292
NP_001391293
NP_001391295

NP_001391296
NP_001391306

Location (UCSC)Chr 4: 137.52 – 137.53 MbChr 3: 49.7 – 49.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin-18 is a protein that in humans is encoded by the PCDH18 gene.[5][6][7]

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000189184 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037892 – 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. ^ Nollet F, Kools P, van Roy F (Jul 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.
  6. ^ Wolverton T, Lalande M (Sep 2001). "Identification and characterization of three members of a novel subclass of protocadherins". Genomics. 76 (1–3): 66–72. doi:10.1006/geno.2001.6592. PMID 11549318.
  7. ^ a b "Entrez Gene: PCDH18 protocadherin 18".

Further reading

  • Suzuki ST (2000). "Recent progress in protocadherin research". Exp. Cell Res. 261 (1): 13–8. doi:10.1006/excr.2000.5039. PMID 11082270.
  • 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.
  • 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.
  • Homayouni R, Rice DS, Curran T (2002). "Disabled-1 interacts with a novel developmentally regulated protocadherin". Biochem. Biophys. Res. Commun. 289 (2): 539–47. doi:10.1006/bbrc.2001.5998. PMID 11716507.
  • Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
  • 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.


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