PCDHAC2

PCDHAC2
Identifiers
Aliases	PCDHAC2, PCDH-ALPHA-C2, protocadherin alpha subfamily C, 2
External IDs	OMIM: 606321; MGI: 1891443; HomoloGene: 49562; GeneCards: PCDHAC2; OMA:PCDHAC2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.3 Start 140,966,470 bp[1] End 141,012,347 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 B3 Start 37,276,556 bp[2] End 37,320,710 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 9 prefrontal cortex cerebellar hemisphere right hemisphere of cerebellum anterior cingulate cortex islet of Langerhans right frontal lobe gonad hypothalamus testicle Top expressed in primary visual cortex hippocampus proper Cortex of frontal lobe superior frontal gyrus dentate gyrus of hippocampal formation granule cell cerebellum cerebellar cortex genital tubercle striatum of neuraxis hypothalamus More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane Biological process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules cell-cell signaling nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56134 353237 Ensembl ENSG00000243232 ENSMUSG00000102697 UniProt Q9Y5I4 Q91Y09 RefSeq (mRNA) NM_031883 NM_018899 NM_001003672 RefSeq (protein) NP_061722 NP_114089 NP_001003672 Location (UCSC) Chr 5: 140.97 – 141.01 Mb Chr 18: 37.28 – 37.32 Mb PubMed search [3] [4]
Wikidata
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Protocadherin alpha-C2 is a protein that in humans is encoded by the PCDHAC2 gene.^[5][6]

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.^[6]

References

Further reading