PCDH12

Protein-coding gene in the species Homo sapiens
PCDH12
Identifiers
AliasesPCDH12, VE-cadherin-2, VECAD2, protocadherin 12, DMJDS1
External IDsOMIM: 605622; MGI: 1855700; HomoloGene: 9574; GeneCards: PCDH12; OMA:PCDH12 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDH12
Genomic location for PCDH12
Band5q31.3Start141,943,581 bp[1]
End141,969,741 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PCDH12
Genomic location for PCDH12
Band18|18 B3Start38,400,142 bp[2]
End38,417,455 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tendon of biceps brachii

  • placenta

  • right lung

  • apex of heart

  • vena cava

  • spleen

  • upper lobe of lung

  • upper lobe of left lung

  • lateral nuclear group of thalamus

  • cardia
Top expressed in
  • left lung lobe

  • renal corpuscle

  • decidua

  • right lung lobe

  • endothelial cell of lymphatic vessel

  • dermis

  • embryo

  • spermatocyte

  • digastric muscle

  • body of femur
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • integral component of membrane
  • cell junction
  • plasma membrane
  • integral component of plasma membrane
  • extracellular exosome
  • membrane
  • cell-cell junction
  • extracellular region
Biological process
  • glycogen metabolic process
  • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
  • labyrinthine layer development
  • neuron recognition
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • cell adhesion
  • cell-cell signaling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

51294

53601

Ensembl

ENSG00000113555

ENSMUSG00000024440

UniProt

Q9NPG4

O55134

RefSeq (mRNA)

NM_016580

NM_017378

RefSeq (protein)

NP_057664

NP_059074

Location (UCSC)Chr 5: 141.94 – 141.97 MbChr 18: 38.4 – 38.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin-12 is a protein that in humans is encoded by the PCDH12 gene.[5][6][7]

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no effect on cell migration or growth.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000113555 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024440 – 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. ^ Wu Q, Maniatis T (Apr 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.
  6. ^ Wu Q, Maniatis T (Jul 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.
  7. ^ a b "Entrez Gene: PCDH12 protocadherin 12".

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.
  • Telo' P, Breviario F, Huber P, et al. (1998). "Identification of a novel cadherin (vascular endothelial cadherin-2) located at intercellular junctions in endothelial cells". J. Biol. Chem. 273 (28): 17565–72. doi:10.1074/jbc.273.28.17565. PMID 9651350. S2CID 25010153.
  • Ludwig D, Lorenz J, Dejana E, et al. (2001). "cDNA cloning, chromosomal mapping, and expression analysis of human VE-Cadherin-2". Mamm. Genome. 11 (11): 1030–3. doi:10.1007/s003350010186. PMID 11063261. S2CID 35069268.
  • 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.
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. S2CID 21903526.


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