Protein-coding gene in the species Homo sapiens
| PCDHA6 |
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| Identifiers |
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| Aliases | PCDHA6, CNR2, CNRN2, CNRS2, CRNR2, PCDH-ALPHA6, protocadherin alpha 6 |
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| External IDs | OMIM: 606312 MGI: 1298367 HomoloGene: 75098 GeneCards: PCDHA6 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 5 (human)[1] |
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| | Band | 5q31.3 | Start | 140,827,958 bp[1] |
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| End | 141,012,347 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 B2- B3 | Start | 37,100,684 bp[2] |
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| End | 37,320,710 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - islet of Langerhans
- prefrontal cortex
- ganglionic eminence
- cerebellar cortex
- cerebellar hemisphere
- Brodmann area 9
- anterior pituitary
- hypothalamus
- nucleus accumbens
- smooth muscle tissue
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| | Top expressed in | - granular layer
- Purkinje cell
- Region I of hippocampus proper
- hippocampus proper
- neural tube
- hypothalamus
- superior frontal gyrus
- mesencephalon
- ganglionic eminence
- lens
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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
- extracellular region
- plasma membrane
- integral component of plasma membrane
- membrane
| | Biological process | - cell adhesion
- nervous system development
- homophilic cell adhesion via plasma membrane adhesion molecules
- cell-cell signaling
| | 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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NM_031849
NM_018909
NM_031848 |
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| RefSeq (protein) | |
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NP_061732
NP_114036
NP_114037 |
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| Location (UCSC) | Chr 5: 140.83 – 141.01 Mb | Chr 18: 37.1 – 37.32 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 alpha-6 is a protein that in humans is encoded by the PCDHA6 gene.[5][6][7]
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000081842 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000103707 – 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.
- ^ Sugino H, Hamada S, Yasuda R, Tuji A, Matsuda Y, Fujita M, Yagi T (Apr 2000). "Genomic organization of the family of CNR cadherin genes in mice and humans". Genomics. 63 (1): 75–87. doi:10.1006/geno.1999.6066. PMID 10662547.
- ^ a b "Entrez Gene: PCDHA6 protocadherin alpha 6".
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.
- Senzaki K, Ogawa M, Yagi T (2000). "Proteins of the CNR family are multiple receptors for Reelin". Cell. 99 (6): 635–47. doi:10.1016/S0092-8674(00)81552-4. PMID 10612399. S2CID 14277878.
- 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. Bibcode:2000PNAS...97.3124W. 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.
- 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.
- Schmutz J, Martin J, Terry A, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268–74. Bibcode:2004Natur.431..268S. doi:10.1038/nature02919. PMID 15372022. S2CID 4373053.
- 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.
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1wuz: Structure of EC1 domain of CNR
