PCDHB13

PCDHB13
Identifiers
Aliases	PCDHB13 , PCDH-BETA13, protocadherin beta 13
External IDs	OMIM: 606339 HomoloGene: 128504 GeneCards: PCDHB13
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.3 Start 141,213,919 bp [1] End 141,218,979 bp [1]
RNA expression pattern Bgee Top expressed in tendon thyroid gland cerebral cortex internal globus pallidus islet of Langerhans brain Achilles tendon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding Cellular component plasma membrane membrane integral component of membrane integral component of plasma membrane photoreceptor connecting cilium synapse postsynaptic membrane photoreceptor disc membrane Biological process chemical synaptic transmission homophilic cell adhesion via plasma membrane adhesion molecules synapse assembly calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules cell adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	56123	n/a
Ensembl	ENSG00000187372	n/a
UniProt	Q9Y5F0	n/a
RefSeq (mRNA)	NM_018933	n/a
RefSeq (protein)	NP_061756	n/a
Location (UCSC)	Chr 5: 141.21 – 141.22 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

Protocadherin beta-13 is a protein that in humans is encoded by the PCDHB13 gene. ^{[3] [4]}

Function

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. ^[4]

References

1. GRCh38: Ensembl release 89: ENSG00000187372 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. 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.
4. "Entrez Gene: PCDHB13 protocadherin beta 13".

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.
• Frank M, Kemler R (2003). "Protocadherins". Curr. Opin. Cell Biol. 14 (5): 557–62. doi:10.1016/S0955-0674(02)00365-4. PMID   12231349.
• 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.
• 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.
• 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.
• 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. 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.
• 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.