LOCUS       NM_016580               5706 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens protocadherin 12 (PCDH12), mRNA.
ACCESSION   NM_016580
VERSION     NM_016580.4
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 5706)
  AUTHORS   Youn,E.Y., Parra,V. and Qian,C.X.
  TITLE     Asynchronous presentation and evolution of homozygous PCDH12
            variant-induced exudative retinopathy in two siblings
  JOURNAL   Can J Ophthalmol 58 (6), e271-e272 (2023)
   PUBMED   37536661
  REMARK    GeneRIF: Asynchronous presentation and evolution of homozygous
            PCDH12 variant-induced exudative retinopathy in two siblings.
REFERENCE   2  (bases 1 to 5706)
  AUTHORS   Accogli,A., El Kosseifi,C., Saint-Martin,C., Addour-Boudrahem,N.,
            Riviere,J.B., Toffoli,D., Lopez,I., Qian,C., Koenekoop,R.K. and
            Srour,M.
  TITLE     PCDH12 variants are associated with basal ganglia anomalies and
            exudative vitreoretinopathy
  JOURNAL   Eur J Med Genet 65 (2), 104405 (2022)
   PUBMED   34929393
  REMARK    GeneRIF: PCDH12 variants are associated with basal ganglia
            anomalies and exudative vitreoretinopathy.
REFERENCE   3  (bases 1 to 5706)
  AUTHORS   Fazeli,W., Bamborschke,D., Moawia,A., Bakhtiari,S., Tafakhori,A.,
            Giersdorf,M., Hahn,A., Weik,A., Kolzter,K., Shafiee,S., Jin,S.C.,
            Korber,F., Lee-Kirsch,M.A., Darvish,H., Cirak,S., Kruer,M.C. and
            Koy,A.
  TITLE     The phenotypic spectrum of PCDH12 associated disorders - Five new
            cases and review of the literature
  JOURNAL   Eur J Paediatr Neurol 36, 7-13 (2022)
   PUBMED   34773825
  REMARK    GeneRIF: The phenotypic spectrum of PCDH12 associated disorders -
            Five new cases and review of the literature.
            Review article
REFERENCE   4  (bases 1 to 5706)
  AUTHORS   Mattioli,F., Voisin,N., Preiksaitiene,E., Kozlovskaja,I.,
            Kucinskas,V. and Reymond,A.
  TITLE     Ophthalmic phenotypes associated with biallelic loss-of-function
            PCDH12 variants
  JOURNAL   Am J Med Genet A 185 (4), 1275-1281 (2021)
   PUBMED   33527719
  REMARK    GeneRIF: Ophthalmic phenotypes associated with biallelic
            loss-of-function PCDH12 variants.
REFERENCE   5  (bases 1 to 5706)
  AUTHORS   Vineeth,V.S., Das Bhowmik,A., Balakrishnan,S., Dalal,A. and
            Aggarwal,S.
  TITLE     Homozygous PCDH12 variants result in phenotype of cerebellar
            ataxia, dystonia, retinopathy, and dysmorphism
  JOURNAL   J Hum Genet 64 (2), 183-189 (2019)
   PUBMED   30459466
  REMARK    GeneRIF: Homozygous PCDH12 mutation is associated with cerebellar
            ataxia, dystonia, retinopathy, and dysmorphism.
REFERENCE   6  (bases 1 to 5706)
  AUTHORS   Yagi,T. and Takeichi,M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   7  (bases 1 to 5706)
  AUTHORS   Wu,Q. and Maniatis,T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   8  (bases 1 to 5706)
  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   9  (bases 1 to 5706)
  AUTHORS   Telo',P., Breviario,F., Huber,P., Panzeri,C. and Dejana,E.
  TITLE     Identification of a novel cadherin (vascular endothelial
            cadherin-2) located at intercellular junctions in endothelial cells
  JOURNAL   J Biol Chem 273 (28), 17565-17572 (1998)
   PUBMED   9651350
REFERENCE   10 (bases 1 to 5706)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF240635.1, AF231025.1,
            AC005740.1 and CA418447.1.
            
            On Dec 23, 2019 this sequence version replaced NM_016580.3.
            
            Summary: This gene belongs to the protocadherin gene family, a
            subfamily of the cadherin superfamily. The encoded protein consists
            of an extracellular domain containing 6 cadherin repeats, a
            transmembrane domain and a cytoplasmic tail that differs from those
            of the classical cadherins. The gene localizes to the region on
            chromosome 5 where the protocadherin gene clusters reside. The exon
            organization of this transcript is similar to that of the gene
            cluster transcripts, notably the first large exon, but no
            significant sequence homology exists. The function of this cellular
            adhesion protein is undetermined but mouse protocadherin 12 does
            not bind catenins and appears to have no affect on cell migration
            or growth. [provided by RefSeq, Jul 2008].
            
            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 :: AF240635.1, AF231025.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146236, SAMEA2151358
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000231484.4/ ENSP00000231484.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AF240635.1         861-905
            46-4321             AF231025.1         1-4276
            4322-5027           AC005740.1         123834-124539
            5028-5702           CA418447.1         18-692              c
            5703-5706           AC005740.1         125215-125218
FEATURES             Location/Qualifiers
     source          1..5706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..5706
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /note="protocadherin 12"
                     /db_xref="GeneID:51294"
                     /db_xref="HGNC:HGNC:8657"
                     /db_xref="MIM:605622"
     exon            1..3231
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             352..3906
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /note="vascular endothelial cadherin 2; vascular
                     cadherin-2; VE-cadherin 2; VE-cad-2"
                     /codon_start=1
                     /product="protocadherin-12 precursor"
                     /protein_id="NP_057664.1"
                     /db_xref="CCDS:CCDS4269.1"
                     /db_xref="GeneID:51294"
                     /db_xref="HGNC:HGNC:8657"
                     /db_xref="MIM:605622"
                     /translation="MMQLLQLLLGLLGPGGYLFLLGDCQEVTTLTVKYQVSEEVPSGT
                     VIGKLSQELGREERRRQAGAAFQVLQLPQALPIQVDSEEGLLSTGRRLDREQLCRQWD
                     PCLVSFDVLATGDLALIHVEIQVLDINDHQPRFPKGEQELEISESASLRTRIPLDRAL
                     DPDTGPNTLHTYTLSPSEHFALDVIVGPDETKHAELIVVKELDREIHSFFDLVLTAYD
                     NGNPPKSGTSLVKVNVLDSNDNSPAFAESSLALEIQEDAAPGTLLIKLTATDPDQGPN
                     GEVEFFLSKHMPPEVLDTFSIDAKTGQVILRRPLDYEKNPAYEVDVQARDLGPNPIPA
                     HCKVLIKVLDVNDNIPSIHVTWASQPSLVSEALPKDSFIALVMADDLDSGHNGLVHCW
                     LSQELGHFRLKRTNGNTYMLLTNATLDREQWPKYTLTLLAQDQGLQPLSAKKQLSIQI
                     SDINDNAPVFEKSRYEVSTRENNLPSLHLITIKAHDADLGINGKVSYRIQDSPVAHLV
                     AIDSNTGEVTAQRSLNYEEMAGFEFQVIAEDSGQPMLASSVSVWVSLLDANDNAPEVV
                     QPVLSDGKASLSVLVNASTGHLLVPIETPNGLGPAGTDTPPLATHSSRPFLLTTIVAR
                     DADSGANGEPLYSIRSGNEAHLFILNPHTGQLFVNVTNASSLIGSEWELEIVVEDQGS
                     PPLQTRALLRVMFVTSVDHLRDSARKPGALSMSMLTVICLAVLLGIFGLILALFMSIC
                     RTEKKDNRAYNCREAESTYRQQPKRPQKHIQKADIHLVPVLRGQAGEPCEVGQSHKDV
                     DKEAMMEAGWDPCLQAPFHLTPTLYRTLRNQGNQGAPAESREVLQDTVNLLFNHPRQR
                     NASRENLNLPEPQPATGQPRSRPLKVAGSPTGRLAGDQGSEEAPQRPPASSATLRRQR
                     HLNGKVSPEKESGPRQILRSLVRLSVAAFAERNPVEELTVDSPPVQQISQLLSLLHQG
                     QFQPKPNHRGNKYLAKPGGSRSAIPDTDGPSARAGGQTDPEQEEGPLDPEEDLSVKQL
                     LEEELSSLLDPSTGLALDRLSAPDPAWMARLSLPLTTNYRDNVISPDAAATEEPRTFQ
                     TFGKAEAPELSPTGTRLASTFVSEMSSLLEMLLEQRSSMPVEAASEALRRLSVCGRTL
                     SLDLATSAASGMKVQGDPGGKTGTEGKSRGSSSSSRCL"
     exon            3232..3329
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /inference="alignment:Splign:2.1.0"
     exon            3330..3481
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /inference="alignment:Splign:2.1.0"
     exon            3482..5706
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4300..4305
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /note="hexamer: AATAAA"
     polyA_site      4318
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /note="major polyA site"
     regulatory      5665..5670
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /note="hexamer: AATAAA"
     regulatory      5677..5682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
                     /note="hexamer: AATAAA"
     polyA_site      5689
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
     polyA_site      5706
                     /gene="PCDH12"
                     /gene_synonym="DMJDS1; VE-cadherin-2; VECAD2"
ORIGIN      
        1 ctagcaactg tttggcagtc agagtcccac atcctgctca actgggtcag gtccctctta
       61 gaccagctct tgtccatcat ttgctgaagt ggaccaacta gttccccagt agggggtctc
      121 ccctggcaat tcttgatcgg cgtttggaca tctcagatcg cttccaatga agatggcctt
      181 gccttggggt cctgcttgtt tcataatcat ctaactatgg gacaaggttg tgccggcagc
      241 tctgggggaa ggagcacggg gctgatcaag ccatccagga aacactggag gacttgtcca
      301 gccttgaaag aactctagtg gtttctgaat ctagcccact tggcggtaag catgatgcaa
      361 cttctgcaac ttctgctggg gcttttgggg ccaggtggct acttatttct tttaggggat
      421 tgtcaggagg tgaccactct cacggtgaaa taccaagtgt cagaggaagt gccatctggt
      481 acagtgatcg ggaagctgtc ccaggaactg ggccgggagg agaggcggag gcaagctggg
      541 gctgccttcc aggtgttgca gctgcctcag gcgctcccca ttcaggtgga ctctgaggaa
      601 ggcttgctca gcacaggcag gcggctggat cgagagcagc tgtgccgaca gtgggatccc
      661 tgcctggttt cctttgatgt gcttgccaca ggggatttgg ctctgatcca tgtggagatc
      721 caagtgctgg acatcaatga ccaccagcca cggtttccca aaggcgagca ggagctggaa
      781 atctctgaga gcgcctctct gcgaacccgg atccccctgg acagagctct tgacccagac
      841 acaggcccta acaccctgca cacctacact ctgtctccca gtgagcactt tgccttggat
      901 gtcattgtgg gccctgatga gaccaaacat gcagaactca tagtggtgaa ggagctggac
      961 agggaaatcc attcattttt tgatctggtg ttaactgcct atgacaatgg gaaccccccc
     1021 aagtcaggta ccagcttggt caaggtcaac gtcttggact ccaatgacaa tagccctgcg
     1081 tttgctgaga gttcactggc actggaaatc caagaagatg ctgcacctgg tacgcttctc
     1141 ataaaactga ccgccacaga ccctgaccaa ggccccaatg gggaggtgga gttcttcctc
     1201 agtaagcaca tgcctccaga ggtgctggac accttcagta ttgatgccaa gacaggccag
     1261 gtcattctgc gtcgacctct agactatgaa aagaaccctg cctacgaggt ggatgttcag
     1321 gcaagggacc tgggtcccaa tcctatccca gcccattgca aagttctcat caaggttctg
     1381 gatgtcaatg acaacatccc aagcatccac gtcacatggg cctcccagcc atcactggtg
     1441 tcagaagctc ttcccaagga cagttttatt gctcttgtca tggcagatga cttggattca
     1501 ggacacaatg gtttggtcca ctgctggctg agccaagagc tgggccactt caggctgaaa
     1561 agaactaatg gcaacacata catgttgcta accaatgcca cactggacag agagcagtgg
     1621 cccaaatata ccctcactct gttagcccaa gaccaaggac tccagccctt atcagccaag
     1681 aaacagctca gcattcagat cagtgacatc aacgacaatg cacctgtgtt tgagaaaagc
     1741 aggtatgaag tctccacgcg ggaaaacaac ttaccctctc ttcacctcat taccatcaag
     1801 gctcatgatg cagacttggg cattaatgga aaagtctcat accgcatcca ggactcccca
     1861 gttgctcact tagtagctat tgactccaac acaggagagg tcactgctca gaggtcactg
     1921 aactatgaag agatggccgg ctttgagttc caggtgatcg cagaggacag cgggcaaccc
     1981 atgcttgcat ccagtgtctc tgtgtgggtc agcctcttgg atgccaatga taatgcccca
     2041 gaggtggtcc agcctgtgct cagcgatgga aaagccagcc tctccgtgct tgtgaatgcc
     2101 tccacaggcc acctgctggt gcccatcgag actcccaatg gcttgggccc agcgggcact
     2161 gacacacctc cactggccac tcacagctcc cggccattcc ttttgacaac cattgtggca
     2221 agagatgcag actcgggggc aaatggagag cccctctaca gcatccgcag tggaaatgaa
     2281 gcccacctct tcatcctcaa ccctcatacg gggcagctgt tcgtcaatgt caccaatgcc
     2341 agcagcctca ttgggagtga gtgggagctg gagatagtag tagaggacca gggaagcccc
     2401 cccttacaga cccgagccct gttgagggtc atgtttgtca ccagtgtgga ccacctgagg
     2461 gactcagccc gcaagcctgg ggccttgagc atgtcgatgc tgacggtgat ctgcctggct
     2521 gtactgttgg gcatcttcgg gttgatcctg gctttgttca tgtccatctg ccggacagaa
     2581 aagaaggaca acagggccta caactgtcgg gaggccgagt ccacctaccg ccagcagccc
     2641 aagaggcccc agaaacacat tcagaaggca gacatccacc tcgtgcctgt gctcaggggt
     2701 caggcaggtg agccttgtga agtcgggcag tcccacaaag atgtggacaa ggaggcgatg
     2761 atggaagcag gctgggaccc ctgcctgcag gcccccttcc acctcacccc gaccctgtac
     2821 aggacgctgc gtaatcaagg caaccaggga gcaccggcgg agagccgaga ggtgctgcaa
     2881 gacacggtca acctcctttt caaccatccc aggcagagga atgcctcccg ggagaacctg
     2941 aaccttcccg agccccagcc tgccacaggc cagccacgtt ccaggcctct gaaggttgca
     3001 ggcagcccca cagggaggct ggctggagac cagggcagtg aggaagcccc acagaggcca
     3061 ccagcctcct ctgcaaccct gagacggcag cgacatctca atggcaaagt gtcccctgag
     3121 aaagaatcag ggccccgtca gatcctgcgg agcctggtcc ggctgtctgt ggctgccttc
     3181 gccgagcgga accccgtgga ggagctcact gtggattctc ctcctgttca gcaaatctcc
     3241 cagctgctgt ccttgctgca tcagggccaa ttccagccca aaccaaacca ccgaggaaat
     3301 aagtacttgg ccaagccagg aggcagcagg agtgcaatcc cagacacaga tggcccaagt
     3361 gcaagggctg gaggccagac agacccagaa caggaggaag ggcctttgga tcctgaagag
     3421 gacctctctg tgaagcaact gctagaagaa gagctgtcaa gtctgctgga ccccagcaca
     3481 ggtctggccc tggaccggct gagcgcccct gacccggcct ggatggcgag actctctttg
     3541 cccctcacca ccaactaccg tgacaatgtg atctccccgg atgctgcagc cacggaggag
     3601 ccaaggacct tccagacgtt cggcaaggca gaggcaccag agctgagccc aacaggcacg
     3661 aggctggcca gcacctttgt ctcggagatg agctcactgc tggagatgct gctggaacag
     3721 cgctccagca tgcccgtgga ggccgcctcc gaggcgctgc ggcggctctc ggtctgcggg
     3781 aggaccctca gtttagactt ggccaccagt gcagcctcag gcatgaaagt gcaaggggac
     3841 ccaggtggaa agacggggac tgagggcaag agcagaggca gcagcagcag cagcaggtgc
     3901 ctgtgaacat acctcagacg cctctggatc caagaaccag gggcctgagg atctgtggac
     3961 aagagctggt ttctaaaatc ttgtaactca ctagctagcg gcggcctgag aactttaggg
     4021 tgactgatgc tacccccaca gaggaggcaa gagccccagg actaacagct gactgaccaa
     4081 agcagcccct tgtaagcagc tctgagtctt ttggaggaca gggacggttt gtggctgaga
     4141 taagtgtttc ctggcaaaac atatgtggag cacaaagggt cagtcctctg gcagaacaga
     4201 tgccacggag tatcacaggc aggaaagggt ggccttcttg ggtagcagga gtcagggggc
     4261 tgtaccctgg gggtgccagg aaatgctctc tgacctatca ataaaggaaa agcagtgatt
     4321 cattctcctg tttgcacctg tcaagaggga gaagggaaga gtaatagagt ggggtttatt
     4381 tgtcatccaa tccctggcaa gaccgtcaca ctgggcctgg acaggagtgg ggcaccttgg
     4441 tacacagtaa caggtacaca aatagcagac atgtgtgctc ttacccctgt tcccctatca
     4501 ctatgttacc aactaatctg cttctcagct gcaaaattag agctaagaaa gcacaactat
     4561 ttataaagca tttacatgag ccaggcacca ggctttacaa taggatttaa tttgattttc
     4621 caacaatcct gggagggagg tattattaac cccatttcac agacacggat atggggcttg
     4681 gagaggtcaa gtggctttcc caagatcaag cagggagtag agccagagcc aggatttgga
     4741 cccaggctgg gccaacacca aaacccatgc cttcaacctt gacaccagcc tgccaaccaa
     4801 agacaggaga agggaaggcc ctggaggtga gctgttggca gcagtgaact tgctcgagct
     4861 ccctcgggaa acactgttga aaggaacatt tccaaagcca tccaggcccg cacctctcta
     4921 cattcccaag cacaaggcaa aaggaacttg gatctgaact gatgcagacc cgttctttcc
     4981 caacaagtag ctcttcaagt gcggatgtca tctttcccaa ccccatttgc gggtaaacct
     5041 tcctctgtca ttgcaggttc aggcttgtga atcccagagg acgctgtgtg aactgggtct
     5101 atgaaatcgg cactgacagc agccagcctt ccaggggatg ggggagggaa gaaacagcag
     5161 atattttccc aaggttcagc tttataattt tcttggaaat ttccgagcag ccaatcagct
     5221 agcttctaaa tagtgtgggt ctctcctgga cactgcaggc aaaagttcct ctatctgctc
     5281 ctctttttgt cctttcttgg agctcagtgc tcatgttcac tgttcaagaa atgggccaat
     5341 catactccca actagggata atgtgcatca tacatacttg gaatacagtg tggtatcatt
     5401 attccatttt acagatgaag aaaatgaggc tccccaaagt tatgagtttc aggggcagag
     5461 tttctcctca cctcactcta ggccagagtg atctccttac agaatctgtg attttcaggc
     5521 tggatcacag aactgttggg ttctgtgggc cagtgagaga aactggggga tatcaagcag
     5581 gcaggcaggg tctccagcct gaccagccag gtgcctgcta caaagcaaca cttgatgaat
     5641 agctgttgaa tggatgtatg aatgaataaa tgtgtcaata aatgcttcag aggccccttt
     5701 tatcca
//
