Protein-coding gene in the species Homo sapiens
| PCDHB14 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| Identifiers |
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| Aliases | PCDHB14, PCDH-BETA14, protocadherin beta 14 |
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| External IDs | OMIM: 606340; MGI: 2136758; HomoloGene: 134303; GeneCards: PCDHB14; OMA:PCDHB14 - 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 | 141,223,343 bp[1] |
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| End | 141,227,759 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 | 37,637,317 bp[2] |
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| End | 37,640,875 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - ganglionic eminence
- Descending thoracic aorta
- lactiferous duct
- ascending aorta
- Achilles tendon
- apex of heart
- prefrontal cortex
- endothelial cell
- body of uterus
- tibial arteries
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| | Top expressed in | - cerebellar cortex
- superior frontal gyrus
- embryo
- neural layer of retina
- primary visual cortex
- hippocampus proper
- dentate gyrus of hippocampal formation granule cell
- ganglionic eminence
- neural tube
- mesencephalon
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - calcium ion binding
- protein binding
| | Cellular component | - plasma membrane
- membrane
- integral component of membrane
- integral component of plasma 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 |
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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: 141.22 – 141.23 Mb | Chr 18: 37.64 – 37.64 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-14 is a protein that in humans is encoded by the PCDHB14 gene.[5][6]
This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome 5. 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: ENSG00000120327 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046191 – 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: PCDHB14 protocadherin beta 14".
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.
- Matsuyoshi N, Tanaka T, Toda K, Imamura S (1997). "Identification of novel cadherins expressed in human melanoma cells". J. Invest. Dermatol. 108 (6): 908–13. doi:10.1111/1523-1747.ep12292703. PMID 9182820.
- 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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.
