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    PCDHGC3 protocadherin gamma subfamily C, 3 [ Homo sapiens ]

    Gene ID: 5098, updated on 11-May-2012
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    Summary

    Official Symbol
    PCDHGC3provided by HGNC
    Official Full Name
    protocadherin gamma subfamily C, 3provided by HGNC
    Primary source
    HGNC:8716
    See related
    Ensembl:ENSG00000240184; HPRD:04693; MIM:603627; Vega:OTTHUMG00000129613
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PC43; PCDH2; PCDH-GAMMA-C3
    Summary
    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. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    5q31
    Sequence :
    Chromosome: 5; NC_000005.9 (140855569..140892546)
    See PCDHGC3 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene protocadherin gamma subfamily A, 1 Neighboring gene protocadherin gamma subfamily A, 2 Neighboring gene protocadherin gamma subfamily A, 3 Neighboring gene protocadherin gamma subfamily B, 1 Neighboring gene protocadherin gamma subfamily A, 4 Neighboring gene protocadherin gamma subfamily B, 2 Neighboring gene protocadherin gamma subfamily A, 5 Neighboring gene protocadherin gamma subfamily B, 3 Neighboring gene protocadherin gamma subfamily A, 6 Neighboring gene protocadherin gamma subfamily A, 7 Neighboring gene protocadherin gamma subfamily B, 4 Neighboring gene protocadherin gamma subfamily A, 8 Neighboring gene protocadherin gamma subfamily B, 5 Neighboring gene protocadherin gamma subfamily A, 9 Neighboring gene protocadherin gamma subfamily B, 6 Neighboring gene protocadherin gamma subfamily A, 10 Neighboring gene protocadherin gamma subfamily A, 11 Neighboring gene protocadherin gamma subfamily B, 7 Neighboring gene protocadherin gamma subfamily B, 8 pseudogene Neighboring gene protocadherin gamma subfamily A, 12 Neighboring gene protocadherin gamma subfamily B, 9 pseudogene Neighboring gene protocadherin gamma subfamily C, 4 Neighboring gene protocadherin gamma subfamily C, 5 Neighboring gene diaphanous homolog 1 (Drosophila) Neighboring gene uncharacterized LOC100505658 Neighboring gene ribosomal protein S27a pseudogene 10

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    2. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348.
    3. Regulated ADAM10-dependent ectodomain shedding of gamma-protocadherin C3 modulates cell-cell adhesion. Reiss K, et al. J Biol Chem, 2006 Aug 4. PMID 16751190.
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932.

    See all (14) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. ADAM10 is the protease responsible for constitutive and regulated Pcdh gamma shedding events that modulate the cell adhesion role of Pcdh gamma.
      Title: Regulated ADAM10-dependent ectodomain shedding of gamma-protocadherin C3 modulates cell-cell adhesion.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:111131 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    calcium-dependent cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    homophilic cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    protocadherin gamma-C3
    Names
    protocadherin gamma-C3
    cadherin-like 2
    protocadherin 2
    protocadherin-2
    protocadherin 43
    protocadherin-43
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_000012.2 Reference

      Range
      186199..223176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002588.2 → NP_002579.2  protocadherin gamma-C3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) includes the constant region exons and encodes the longest isoform (1).
      Source sequence(s)
      AF152337, BG765565
      Consensus CDS
      CCDS4261.1
      UniProtKB/Swiss-Prot
      Q9UN70
      Related
      ENSP00000312070, OTTHUMP00000160013, ENST00000308177, OTTHUMT00000251808
      Conserved Domains (1) summary
      cd11304
      Location:249 – 348
      Blast Score: 284
      Cadherin_repeat; Cadherin tandem repeat domain.

    2. NM_032402.1 → NP_115778.1  protocadherin gamma-C3 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) utilizes the large, first exon then continues into the downstream intron 1 sequence before terminating. This one-exon transcript encodes the shorter isoform (2).
      Source sequence(s)
      AF152524, BG765565, L11371
      UniProtKB/Swiss-Prot
      Q9UN70
      Conserved Domains (1) summary
      cd11304
      Location:249 – 348
      Blast Score: 283
      Cadherin_repeat; Cadherin tandem repeat domain.

    3. NM_032403.1 → NP_115779.1  protocadherin gamma-C3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) utilizes an alternative splice donor site that truncates exon 1. This shortest isoform (3) contains no cadherin domains and lacks a signal sequence and transmembrane region. The functional significance of this isoform is unknown but the transcript is well represented in the EST database.
      Source sequence(s)
      AF152337, BG765565
      UniProtKB/TrEMBL
      Q9BR81
      UniProtKB/Swiss-Prot
      Q9UN70

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      140855569..140892546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      136000415..136037386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005366.1 (17974..54941) None
    genomic AC008781.7 (138117..175095) None
    genomic AF052683.1 AAC08350.1
    genomic AF052684.1 AAC08350.1
    genomic AF052685.1 AAC08350.1
    genomic AF119570.1 AAF03087.1
    genomic CH471062.2 EAW61959.1
      EAW61962.1
    mRNA AF152337.1 AAD43731.1
    mRNA AF152524.1 AAD43784.1
    mRNA BC004321.1 AAH04321.1
    mRNA BC006439.1 AAH06439.1
    mRNA BC019299.1 AAH19299.1
    mRNA BC026218.1 AAH26218.1
    mRNA BC027451.1 AAH27451.1
    mRNA BC027470.1 AAH27470.1
    mRNA BC063437.1 AAH63437.1
    mRNA BG765565.1 None
    mRNA L11371.1 AAA36420.1
    mRNA L11373.1 AAA75391.1
    other-genetic DQ893469.2 ABM84395.1
    other-genetic DQ896354.2 ABM87353.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAJ2 GenPept UniProtKB/TrEMBL:Q8TAJ2
    Q9BR81 GenPept UniProtKB/TrEMBL:Q9BR81
    Q9BT64 GenPept UniProtKB/TrEMBL:Q9BT64
    Q9UKW1 GenPept UniProtKB/TrEMBL:Q9UKW1
    Q9UN70.1 GenPept UniProtKB/Swiss-Prot:Q9UN70
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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