Protein-coding gene in the species Homo sapiens
PCDHA12 |
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Identifiers |
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Aliases | PCDHA12, PCDH-ALPHA12, protocadherin alpha 12 |
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External IDs | OMIM: 606318; MGI: 1298408; HomoloGene: 135720; GeneCards: PCDHA12; OMA:PCDHA12 - 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 | 140,875,302 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 B3 | Start | 37,138,256 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 | - testicle
- cerebellum
- cerebellar cortex
- cerebellar hemisphere
- islet of Langerhans
- prefrontal cortex
- ganglionic eminence
- gallbladder
- right hemisphere of cerebellum
- superior frontal gyrus
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| Top expressed in | - Ileal epithelium
- CA3 field
- choroid plexus of fourth ventricle
- granular layer
- soleus muscle
- granular layer of dentate gyrus
- Purkinje cell
- dentate gyrus of hippocampal formation granule cell
- tibialis anterior muscle
- lactiferous gland
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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 | | Cellular component | - integral component of membrane
- plasma membrane
- membrane
- integral component of plasma membrane
| Biological process | - homophilic cell adhesion via plasma membrane adhesion molecules
- cell adhesion
- cell-cell signaling
- nervous system development
| 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: 140.88 – 141.01 Mb | Chr 18: 37.14 – 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-12 is a protein that in humans is encoded by the PCDHA12 gene.[5][6]
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome 5 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.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000251664 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007440 – 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: PCDHA12 protocadherin alpha 12".
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.
- Martineau J, Barthélémy C, Jouve J, et al. (1992). "Monoamines (serotonin and catecholamines) and their derivatives in infantile autism: age-related changes and drug effects". Developmental Medicine & Child Neurology. 34 (7): 593–603. doi:10.1111/j.1469-8749.1992.tb11490.x. PMID 1380929. S2CID 28807066.
- Sugino H, Hamada S, Yasuda R, et al. (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.
- 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.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.