PCDHB12

PCDHB12
Identifiers
Aliases	PCDHB12, PCDH-BETA12, protocadherin beta 12
External IDs	OMIM: 606338; MGI: 2136757; GeneCards: PCDHB12
Gene location (Human)
Chr.	Chromosome 5 (human)
End	141,212,571 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	37,637,181 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	56124
	93890
	ENSG00000120328
	ENSMUSG00000043313
	Q9Y5F1
	n/a
	NM_018932
	NM_053144
	NP_061755
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000120328 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000043313 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
1 2 "Entrez Gene: PCDHB12 protocadherin beta 12".

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.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000120328 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid10380929-5] 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.

[entrez-6] 1 2 "Entrez Gene: PCDHB12 protocadherin beta 12".

PCDHB12

References

Further reading