LOCUS       NM_002588               4758 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3),
            transcript variant 1, mRNA.
ACCESSION   NM_002588
VERSION     NM_002588.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4758)
  AUTHORS   Feldheim,J., Wend,D., Lauer,M.J., Monoranu,C.M., Glas,M.,
            Kleinschnitz,C., Ernestus,R.I., Braunger,B.M., Meybohm,P.,
            Hagemann,C. and Burek,M.
  TITLE     Protocadherin Gamma C3 (PCDHGC3) Is Strongly Expressed in
            Glioblastoma and Its High Expression Is Associated with Longer
            Progression-Free Survival of Patients
  JOURNAL   Int J Mol Sci 23 (15), 8101 (2022)
   PUBMED   35897674
  REMARK    GeneRIF: Protocadherin Gamma C3 (PCDHGC3) Is Strongly Expressed in
            Glioblastoma and Its High Expression Is Associated with Longer
            Progression-Free Survival of Patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4758)
  AUTHORS   Bernardo-Castineira,C., Valdes,N., Celada,L., Martinez,A.S.J.,
            Saenz-de-Santa-Maria,I., Bayon,G.F., Fernandez,A.F., Sierra,M.I.,
            Fraga,M.F., Astudillo,A., Jimenez-Fonseca,P., Rial,J.C.,
            Hevia,M.A., Turienzo,E., Bernardo,C., Forga,L., Tena,I.,
            Molina-Garrido,M.J., Cacho,L., Villabona,C., Serrano,T., Scola,B.,
            Chirivella,I., Del Olmo,M., Menendez,C.L., Navarro,E., Tous,M.,
            Vallejo,A., Athimulam,S., Bancos,I., Suarez,C. and Chiara,M.D.
  TITLE     Epigenetic Deregulation of Protocadherin PCDHGC3 in
            Pheochromocytomas/Paragangliomas Associated With SDHB Mutations
  JOURNAL   J Clin Endocrinol Metab 104 (11), 5673-5692 (2019)
   PUBMED   31216007
  REMARK    GeneRIF: Our data provide a map of the DNA methylome episignature
            specific to an SDHB-mutated cancer and establish PCDHGC3 as a
            putative suppressor gene
REFERENCE   3  (bases 1 to 4758)
  AUTHORS   Dallosso,A.R., Oster,B., Greenhough,A., Thorsen,K., Curry,T.J.,
            Owen,C., Hancock,A.L., Szemes,M., Paraskeva,C., Frank,M.,
            Andersen,C.L. and Malik,K.
  TITLE     Long-range epigenetic silencing of chromosome 5q31 protocadherins
            is involved in early and late stages of colorectal tumorigenesis
            through modulation of oncogenic pathways
  JOURNAL   Oncogene 31 (40), 4409-4419 (2012)
   PUBMED   22249255
  REMARK    GeneRIF: our data suggest that the PCDH LRES is an important tumour
            suppressor locus in colorectal cancer, and that PCDHGC3 may be a
            strong marker and driver for the adenoma-carcinoma transition.
REFERENCE   4  (bases 1 to 4758)
  AUTHORS   Reiss,K., Maretzky,T., Haas,I.G., Schulte,M., Ludwig,A., Frank,M.
            and Saftig,P.
  TITLE     Regulated ADAM10-dependent ectodomain shedding of
            gamma-protocadherin C3 modulates cell-cell adhesion
  JOURNAL   J Biol Chem 281 (31), 21735-21744 (2006)
   PUBMED   16751190
  REMARK    GeneRIF: ADAM10 is the protease responsible for constitutive and
            regulated Pcdh gamma shedding events that modulate the cell
            adhesion role of Pcdh gamma.
REFERENCE   5  (bases 1 to 4758)
  AUTHORS   Wu,Q., Zhang,T., Cheng,J.F., Kim,Y., Grimwood,J., Schmutz,J.,
            Dickson,M., Noonan,J.P., Zhang,M.Q., Myers,R.M. and Maniatis,T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   6  (bases 1 to 4758)
  AUTHORS   Wu,Q. and Maniatis,T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
REFERENCE   7  (bases 1 to 4758)
  AUTHORS   Obata,S., Sago,H., Mori,N., Davidson,M., St John,T. and Suzuki,S.T.
  TITLE     A common protocadherin tail: multiple protocadherins share the same
            sequence in their cytoplasmic domains and are expressed in
            different regions of brain
  JOURNAL   Cell Adhes Commun 6 (4), 323-333 (1998)
   PUBMED   9865466
REFERENCE   8  (bases 1 to 4758)
  AUTHORS   Lynch,E.D., Lee,M.K., Morrow,J.E., Welcsh,P.L., Leon,P.E. and
            King,M.C.
  TITLE     Nonsyndromic deafness DFNA1 associated with mutation of a human
            homolog of the Drosophila gene diaphanous
  JOURNAL   Science 278 (5341), 1315-1318 (1997)
   PUBMED   9360932
REFERENCE   9  (bases 1 to 4758)
  AUTHORS   Obata,S., Sago,H., Mori,N., Rochelle,J.M., Seldin,M.F.,
            Davidson,M., St John,T., Taketani,S. and Suzuki,S.T.
  TITLE     Protocadherin Pcdh2 shows properties similar to, but distinct from,
            those of classical cadherins
  JOURNAL   J Cell Sci 108 (Pt 12), 3765-3773 (1995)
   PUBMED   8719883
REFERENCE   10 (bases 1 to 4758)
  AUTHORS   Sano,K., Tanihara,H., Heimark,R.L., Obata,S., Davidson,M., St
            John,T., Taketani,S. and Suzuki,S.
  TITLE     Protocadherins: a large family of cadherin-related molecules in
            central nervous system
  JOURNAL   EMBO J 12 (6), 2249-2256 (1993)
   PUBMED   8508762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008781.7, BC006439.1 and
            BC019299.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002588.3.
            
            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].
            
            Transcript Variant: This variant (1) includes the constant region
            exons and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC019299.1, SRR1803614.94798.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308177.5/ ENSP00000312070.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                AC008781.7         175096-175131       c
            37-37               BC006439.1         1-1
            38-4758             BC019299.1         1-4721
FEATURES             Location/Qualifiers
     source          1..4758
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..4758
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /note="protocadherin gamma subfamily C, 3"
                     /db_xref="GeneID:5098"
                     /db_xref="HGNC:HGNC:8716"
                     /db_xref="MIM:603627"
     exon            1..2581
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             152..2956
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cadherin-like 2; protocadherin 43;
                     protocadherin gamma-C3; protocadherin-2"
                     /codon_start=1
                     /product="protocadherin gamma-C3 isoform 1 precursor"
                     /protein_id="NP_002579.2"
                     /db_xref="CCDS:CCDS4261.1"
                     /db_xref="GeneID:5098"
                     /db_xref="HGNC:HGNC:8716"
                     /db_xref="MIM:603627"
                     /translation="MVPEAWRSGLVSTGRVVGVLLLLGALNKASTVIHYEIPEEREKG
                     FAVGNVVANLGLDLGSLSARRFRVVSGASRRFFEVNRETGEMFVNDRLDREELCGTLP
                     SCTVTLELVVENPLELFSVEVVIQDINDNNPAFPTQEMKLEISEAVAPGTRFPLESAH
                     DPDVGSNSLQTYELSRNEYFALRVQTREDSTKYAELVLERALDREREPSLQLVLTALD
                     GGTPALSASLPIHIKVLDANDNAPVFNQSLYRARVLEDAPSGTRVVQVLATDLDEGPN
                     GEIIYSFGSHNRAGVRQLFALDLVTGMLTIKGRLDFEDTKLHEIYIQAKDKGANPEGA
                     HCKVLVEVVDVNDNAPEITVTSVYSPVPEDAPLGTVIALLSVTDLDAGENGLVTCEVP
                     PGLPFSLTSSLKNYFTLKTSADLDRETVPEYNLSITARDAGTPSLSALTIVRVQVSDI
                     NDNPPQSSQSSYDVYIEENNLPGAPILNLSVWDPDAPQNARLSFFLLEQGAETGLVGR
                     YFTINRDNGIVSSLVPLDYEDRREFELTAHISDGGTPVLATNISVNIFVTDRNDNAPQ
                     VLYPRPGGSSVEMLPRGTSAGHLVSRVVGWDADAGHNAWLSYSLLGSPNQSLFAIGLH
                     TGQISTARPVQDTDSPRQTLTVLIKDNGEPSLSTTATLTVSVTEDSPEARAEFPSGSA
                     PREQKKNLTFYLLLSLILVSVGFVVTVFGVIIFKVYKWKQSRDLYRAPVSSLYRTPGP
                     SLHADAVRGGLMSPHLYHQVYLTTDSRRSDPLLKKPGAASPLASRQNTLRSCDPVFYR
                     QVLGAESAPPGQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILA
                     SASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAGKRD
                     GKAPAGGNGNKKKSGKKEKK"
     exon            2582..2640
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2641..2729
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2730..4758
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4737..4742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /note="hexamer: AATAAA"
     polyA_site      4758
                     /gene="PCDHGC3"
                     /gene_synonym="PC43; PCDH-GAMMA-C3; PCDH2"
                     /note="major polyA site"
ORIGIN      
        1 agagactgaa cagccggcga gcaaatcaac ggcatccaga aagccatgtc ggactcggcg
       61 cccagcgccc aagcgctaac ccgctgaaag tttctcagcg aaatctcagg gacgatctgg
      121 accccgctga gaggaactgc ttttgagtga gatggtccca gaggcctgga ggagcggact
      181 ggtaagcacc gggagggtag tgggagtttt gcttctgctt ggtgccttga acaaggcttc
      241 cacggtcatt cactatgaga tcccggagga aagagagaag ggtttcgctg tgggcaacgt
      301 ggtcgcgaac cttggtttgg atctcggtag cctctcagcc cgcaggttcc gggtggtgtc
      361 tggagctagc cgaagattct ttgaggtgaa ccgggagacc ggagagatgt ttgtgaacga
      421 ccgtctggat cgagaggagc tgtgtgggac actgccctct tgcactgtaa ctctggagtt
      481 ggtagtggag aacccgctgg agctgttcag cgtggaagtg gtgatccagg acatcaacga
      541 caacaatcct gctttcccta cccaggaaat gaaattggag attagcgagg ccgtggctcc
      601 ggggacgcgc tttccgctcg agagcgcgca cgatcccgat gtgggaagca actctttaca
      661 aacctatgag ctgagccgaa atgaatactt tgcgcttcgc gtgcagacgc gggaggacag
      721 caccaagtac gcggagctgg tgttggagcg cgccctggac cgagaacggg agcctagtct
      781 ccagttagtg ctgacggcgt tggacggagg gaccccagct ctctccgcca gcctgcctat
      841 tcacatcaag gtgctggacg cgaatgacaa tgcgcctgtc ttcaaccagt ccttgtaccg
      901 ggcgcgcgtc ctggaggatg caccctccgg cacgcgcgtg gtacaagtcc ttgcaacgga
      961 tctggatgaa ggccccaacg gtgaaattat ttactccttc ggcagccaca accgcgccgg
     1021 cgtgcggcaa ctattcgcct tagaccttgt aaccgggatg ctgacaatca agggtcggct
     1081 ggacttcgag gacaccaaac tccatgagat ttacatccag gccaaagaca agggcgccaa
     1141 tcccgaagga gcacattgca aagtgttggt ggaggttgtg gatgtgaatg acaacgcccc
     1201 ggagatcaca gtcacctccg tgtacagccc agtacccgag gatgcccctc tggggactgt
     1261 catcgctttg ctcagtgtga ctgacctgga tgctggcgag aacgggctgg tgacctgcga
     1321 agttccaccg ggtctccctt tcagccttac ttcttccctc aagaattact tcactttgaa
     1381 aaccagtgca gacctggatc gggagactgt gccagaatac aacctcagca tcaccgcccg
     1441 agacgccgga accccttccc tctcagccct tacaatagtg cgtgttcaag tgtccgacat
     1501 caatgacaac cctccacaat cttctcaatc ttcctacgac gtttacattg aagaaaacaa
     1561 cctccccggg gctccaatac taaacctaag tgtctgggac cccgacgccc cgcagaatgc
     1621 tcggctttct ttctttctct tggagcaagg agctgaaacc gggctagtgg gtcgctattt
     1681 cacaataaat cgtgacaatg gcatagtgtc atccttagtg cccctagact atgaggatcg
     1741 gcgggaattt gaattaacag ctcatatcag cgatgggggc accccggtcc tagccaccaa
     1801 catcagcgtg aacatatttg tcactgatcg caatgacaat gccccccagg tcctatatcc
     1861 tcggccaggt gggagctcgg tggagatgct gcctcgaggt acctcagctg gccacctagt
     1921 gtcacgggtg gtaggctggg acgcggatgc agggcacaat gcctggctct cctacagtct
     1981 cttgggatcc cctaaccaga gcctttttgc catagggctg cacactggtc aaatcagtac
     2041 tgcccgtcca gtccaagaca cagattcacc caggcagact ctcacggtct tgatcaaaga
     2101 caatggggag ccttcgctct ccaccactgc taccctcact gtgtcagtaa ccgaggactc
     2161 tcctgaagcc cgagccgagt tcccctctgg ctctgccccc cgggagcaga aaaaaaatct
     2221 caccttttat ctacttcttt ctctaatcct ggtttctgtg gggtttgtgg tcacagtgtt
     2281 cggagtaatc atattcaaag tttacaagtg gaagcagtct agagacctat accgagcccc
     2341 ggtgagctca ctgtaccgaa caccagggcc ctccttgcac gcggacgccg tgcggggagg
     2401 cctgatgtcg ccgcaccttt accatcaggt gtatctcacc acggactccc gccgcagcga
     2461 cccgctgctg aagaaacctg gtgcagccag tccactggcc agccgccaga acacgctgcg
     2521 gagctgtgat ccggtgttct ataggcaggt gttgggtgca gagagcgccc ctcccggaca
     2581 gcaagccccg cccaacacgg actggcgttt ctctcaggcc cagagacccg gcaccagcgg
     2641 ctcccaaaat ggcgatgaca ccggcacctg gcccaacaac cagtttgaca cagagatgct
     2701 gcaagccatg atcttggcgt ccgccagtga agctgctgat gggagctcca ccctgggagg
     2761 gggtgccggc accatgggat tgagcgcccg ctacggaccc cagttcaccc tgcagcacgt
     2821 gcccgactac cgccagaatg tctacatccc aggcagcaat gccacactga ccaacgcagc
     2881 tggcaagcgg gatggcaagg ccccagcagg tggcaatggc aacaagaaga agtcgggcaa
     2941 gaaggagaag aagtaacatg gaggccaggc caagagccac agggcggcct ctccccaacc
     3001 agcccagctt ctccttacct gcacccaggc ctcagagttt cagggctaac ccccagaata
     3061 ctggtagggg ccaaggccat gctccccttg ggaaacagaa acaagtgccc agtcagcacc
     3121 taccccttcc cccccagggg gttgaatatg caaaagcagt tccgctggga acccccatcc
     3181 aatcaactgc tgtacccatg ggggtagtgg ggttactgta gacaccaaga accatttgcc
     3241 acaccccgtt tagttacagc tgaactcctc catcttccaa atcaatcagg cccatccatc
     3301 ccatgcctcc ctcctcccca ccccactcca acagttcctc tttcccgagt aaggtggttg
     3361 gggtgttgaa gtaccaagta acctacaagc ctcctagttc tgaaaagttg gaagggcatc
     3421 atgacctctt ggcctctcct ttgattctca atcttccccc aaagcatggt ttggtgccag
     3481 ccccttcacc tccttccaga gcccaagatc aatgctcaag ttttggagga catgatcacc
     3541 atccccatgg tactgatgct tgctggattt agggagggca ttttgctacc aagcctcttc
     3601 ccaacgccct ggggaccagt cttctgtttt gtttttcatt gtttgacgtt tccactgcat
     3661 gccttgactt cccccacctc ctcctcaaac aagagactcc actgcatgtt ccaagacagt
     3721 atggggtggt aagataagga agggaagtgt gtggatgtgg atggtggggg catggacaaa
     3781 gcttgacaca tcaagttatc aaggccttgg aggaggctct gtatgtcctc aggggactga
     3841 caacatcctc cagattccag ccataaacca ataactaggc tggacccttc ccactacata
     3901 atagggctca gcccaggcag ccagctttgg gctgagctaa caggaccaat ggattaaact
     3961 ggcatttcag tccaaggaag ctcgaagcag gtttaggacc aggtcccctt gagaggtcag
     4021 aggggcctct gtgggtgctg ggtactccag aggtgccact ggtggaaggg tcagcggagc
     4081 cccagcagga agggtgggcc agccaggcca ttcttagtcc ctgggttggg gaggcaggga
     4141 gctagggcag ggaccaaatg aacagaaagt ctcagcccag gatggggctt cttcaacagg
     4201 gcccctgccc tcctgaagcc tcagtccttc accttgccag gtgccgtttc tcttccgtga
     4261 aggccactgc ccaggtcccc agtgcgcccc ctagtggcca tagcctggtt aaagttcccc
     4321 agtgcctcct tgtgcataga ccttcttctc ccaccccctt ctgcccctgg gtccccggcc
     4381 atccagcggg gctgccagag aaccccagac ctgcccttac agtagtgtag cgccccctcc
     4441 ctctttcggc tggtgtagaa tagccagtag tgtagtgcgg tgtgctttta cgtgatggcg
     4501 ggtgggcagc gggcggcggg ctccgcgcag ccgtctgtcc ttgatctgcc cgcggcggcc
     4561 cgtgttgtgt tttgtgctgt gtccacgcgc taaggcgacc ccctcccccg tactgacttc
     4621 tcctataagc gcttctcttc gcatagtcac gtagctccca ccccaccctc ttcctgtgtc
     4681 tcacgcaagt tttatactct aatatttata tggctttttt tcttcgacaa aaaaataata
     4741 aaacgtttct tctgaaaa
//
