Protein-coding gene in the species Homo sapiens
| PCDHB3 |
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| Identifiers |
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| Aliases | PCDHB3, PCDH-BETA3, protocadherin beta 3 |
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| External IDs | OMIM: 606329; MGI: 2136737; HomoloGene: 115665; GeneCards: PCDHB3; OMA:PCDHB3 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 5 (human)[1] |
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| | Band | 5q31.3 | Start | 141,100,473 bp[1] |
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| End | 141,103,827 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 18 (mouse)[2] |
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| | Band | 18|18 B3 | Start | 37,433,852 bp[2] |
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| End | 37,437,638 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - testicle
- ganglionic eminence
- islet of Langerhans
- ventricular zone
- smooth muscle tissue
- prefrontal cortex
- body of uterus
- left ovary
- anterior pituitary
- Achilles tendon
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| | Top expressed in | - substantia nigra
- Region I of hippocampus proper
- trigeminal ganglion
- glossopharyngeal ganglion
- facial motor nucleus
- pituitary gland
- suprachiasmatic nucleus
- superior cervical ganglion
- Greater petrosal nerve
- barrel cortex
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | | | Cellular component | - integral component of membrane
- plasma membrane
- integral component of plasma membrane
- membrane
| | Biological process | - calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
- synapse assembly
- cell adhesion
- nervous system development
- homophilic cell adhesion via plasma membrane adhesion molecules
- chemical synaptic transmission
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 5: 141.1 – 141.1 Mb | Chr 18: 37.43 – 37.44 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Protocadherin beta-3 is a protein that in humans is encoded by the PCDHB3 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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000113205 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045498 – 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.
- ^ a b "Entrez Gene: PCDHB3 protocadherin beta 3".
Further reading
- Frank M, Kemler R (2003). "Protocadherins". Curr. Opin. Cell Biol. 14 (5): 557–62. doi:10.1016/S0955-0674(02)00365-4. PMID 12231349.
- 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.
- 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.
