PCDHB12

Protein-coding gene in humans
PCDHB12
Identifiers
AliasesPCDHB12, PCDH-BETA12, protocadherin beta 12
External IDsOMIM: 606338; MGI: 2136757; HomoloGene: 128411; GeneCards: PCDHB12; OMA:PCDHB12 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDHB12
Genomic location for PCDHB12
Band5q31.3Start141,208,697 bp[1]
End141,212,571 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PCDHB12
Genomic location for PCDHB12
Band18|18 B3Start37,630,044 bp[2]
End37,637,181 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • Achilles tendon

  • Descending thoracic aorta

  • smooth muscle tissue

  • body of uterus

  • gastric mucosa

  • ascending aorta

  • ventricular zone

  • right coronary artery

  • popliteal artery
Top expressed in
  • renal corpuscle

  • substantia nigra

  • trigeminal ganglion

  • fossa

  • superior frontal gyrus

  • medullary collecting duct

  • neuron

  • primary visual cortex

  • dentate gyrus of hippocampal formation granule cell

  • neural layer of retina
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • integral component of plasma membrane
  • membrane
Biological process
  • cell adhesion
  • nervous system development
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • chemical synaptic transmission
  • synapse assembly
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

56124

93890

Ensembl

ENSG00000120328

ENSMUSG00000043313

UniProt

Q9Y5F1

n/a

RefSeq (mRNA)

NM_018932

NM_053144

RefSeq (protein)

NP_061755

n/a

Location (UCSC)Chr 5: 141.21 – 141.21 MbChr 18: 37.63 – 37.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin beta-12 is a protein that in humans is encoded by the PCDHB12 gene.[5][6]

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120328 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043313 – 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 (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.
  6. ^ a b "Entrez Gene: PCDHB12 protocadherin beta 12".

Further reading

  • 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.
  • 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.
  • 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.
  • 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.
  • Vanhalst K, Kools P, Vanden Eynde E, van Roy F (2001). "The human and murine protocadherin-beta one-exon gene families show high evolutionary conservation, despite the difference in gene number". FEBS Lett. 495 (1–2): 120–5. doi:10.1016/S0014-5793(01)02372-9. PMID 11322959. S2CID 36671435.
  • 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.
  • 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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