PCDHB12

PCDHB12
Identifiers
Aliases	PCDHB12 , PCDH-BETA12, protocadherin beta 12
External IDs	OMIM: 606338 MGI: 2136757 HomoloGene: 128411 GeneCards: PCDHB12
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,208,697 bp [1] End 141,212,571 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 B3 Start 37,630,044 bp [2] End 37,637,181 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence Achilles tendon smooth muscle tissue gastric mucosa ascending aorta right coronary artery popliteal artery islet of Langerhans left coronary artery endometrium Top expressed in renal corpuscle substantia nigra trigeminal ganglion fossa superior frontal gyrus medullary collecting duct neuron ureter ascending aorta semi-lunar valve 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 Species Human Mouse 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 Mb Chr 18: 37.63 – 37.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000120328 - Ensembl, May 2017
2. 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. "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.