PCDHGC3

Protein-coding gene in the species Homo sapiens
PCDHGC3
Identifiers
AliasesPCDHGC3, PC43, PCDH-GAMMA-C3, PCDH2, protocadherin gamma subfamily C, 3
External IDsOMIM: 603627; MGI: 1935201; HomoloGene: 31099; GeneCards: PCDHGC3; OMA:PCDHGC3 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDHGC3
Genomic location for PCDHGC3
Band5q31.3Start141,475,947 bp[1]
End141,512,977 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PCDHGC3
Genomic location for PCDHGC3
Band18 B3|18 19.67 cMStart37,939,417 bp[2]
End37,974,926 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right frontal lobe

  • right hemisphere of cerebellum

  • anterior cingulate cortex

  • C1 segment

  • canal of the cervix

  • right lung

  • anterior pituitary

  • right coronary artery

  • upper lobe of left lung

  • ascending aorta
Top expressed in
  • ganglionic eminence

  • cerebellum

  • cerebellar cortex

  • white adipose tissue

  • olfactory bulb

  • striatum of neuraxis

  • lung

  • hippocampus proper

  • superior frontal gyrus

  • lip
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • membrane
  • integral component of plasma membrane
Biological process
  • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • cell adhesion
  • cell-cell signaling
  • nervous system development
  • synapse organization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5098

93706

Ensembl

ENSG00000240184

ENSMUSG00000102918

UniProt

Q9UN70

n/a

RefSeq (mRNA)

NM_032403
NM_002588
NM_032402

NM_033581

RefSeq (protein)

NP_002579
NP_115778
NP_115779

n/a

Location (UCSC)Chr 5: 141.48 – 141.51 MbChr 18: 37.94 – 37.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.[5][6][7]

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000240184 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000102918 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8. Bibcode:1997Sci...278.1315L. doi:10.1126/science.278.5341.1315. PMID 9360932. S2CID 43492826.
  6. ^ Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St John T, Taketani S, Suzuki S (Jul 1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system". EMBO J. 12 (6): 2249–56. doi:10.1002/j.1460-2075.1993.tb05878.x. PMC 413453. PMID 8508762.
  7. ^ a b "Entrez Gene: PCDHGC3 protocadherin gamma subfamily C, 3".

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.
  • Obata S, Sago H, Mori N, et al. (1997). "Protocadherin Pcdh2 shows properties similar to, but distinct from, those of classical cadherins". J. Cell Sci. 108 (12): 3765–73. doi:10.1242/jcs.108.12.3765. PMID 8719883.
  • Obata S, Sago H, Mori N, et al. (1999). "A common protocadherin tail: multiple protocadherins share the same sequence in their cytoplasmic domains and are expressed in different regions of brain". Cell Adhes. Commun. 6 (4): 323–33. doi:10.3109/15419069809010791. PMID 9865466.
  • Wu Q, Maniatis T (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.
  • 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.
  • 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.
  • Reiss K, Maretzky T, Haas IG, et al. (2006). "Regulated ADAM10-dependent ectodomain shedding of gamma-protocadherin C3 modulates cell-cell adhesion". J. Biol. Chem. 281 (31): 21735–44. doi:10.1074/jbc.M602663200. PMID 16751190. S2CID 38025891.


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