LOCUS       NM_001114726            2399 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens proline rich transmembrane protein 4 (PRRT4),
            transcript variant 2, mRNA.
ACCESSION   NM_001114726 XR_040393 XR_040394 XR_040395 XR_040396
VERSION     NM_001114726.3
KEYWORDS    RefSeq.
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 2399)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   2  (bases 1 to 2399)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010655.7, BC063892.1 and BU688038.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001114726.2.
            
            Transcript Variant: This variant (2) lacks both an exon in the 5'
            UTR and a segment in the 3' coding region, which causes a
            frameshift, compared to variant 1. The encoded isoform (2) has a
            distinct C-terminus and is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC063892.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-86                AC010655.7         31354-31439         c
            87-156              BC063892.1         1-70
            157-157             AC010655.7         29786-29786         c
            158-2238            BC063892.1         72-2152
            2239-2399           BU688038.1         18-178              c
FEATURES             Location/Qualifiers
     source          1..2399
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     gene            1..2399
                     /gene="PRRT4"
                     /note="proline rich transmembrane protein 4"
                     /db_xref="GeneID:401399"
                     /db_xref="HGNC:HGNC:37280"
     exon            1..130
                     /gene="PRRT4"
                     /inference="alignment:Splign:2.1.0"
     exon            131..854
                     /gene="PRRT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..1492
                     /gene="PRRT4"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2"
                     /codon_start=1
                     /product="proline-rich transmembrane protein 4 isoform 2
                     precursor"
                     /protein_id="NP_001108198.2"
                     /db_xref="CCDS:CCDS47698.2"
                     /db_xref="GeneID:401399"
                     /db_xref="HGNC:HGNC:37280"
                     /translation="MARHGCLGLGLFCCVLFAATVGPQPTPSIPGAPATTLTPVPQSE
                     ASMLSLNLGLNFKFHLRGPAAVWGSPVTETQPLSLGPGQEPGEEVASGLRTDPLWELL
                     VGSSGNSLTEWGSTEGGSKPRASSLLPESTSRRSGPSDGPTAPYQPRRSTVTWDTALM
                     VTALPSSAPRPHQSELELKFDMALRAGAAPTLGHRTLPLLPSLRASLAEIAGRLGPFG
                     FFGTTLSPLRNFSGLSPPGETTSTSSASGVSGSLGFLGTTLSLPPYSLERKLSSPSPL
                     DPAASLSFASIATTSLDPTVPISGPDDLSPPASLGNPSGQPECGPGSCSVGELPEREG
                     QPPEAPRPLFFLTLEADWAEARARWGLAWEAHVYGRLHRGLPPALPNQPATQHRGGPL
                     QRGPACAWPLPGPCLRGRSAWARTLPHRLAGDRGQGQ"
     exon            855..959
                     /gene="PRRT4"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1079
                     /gene="PRRT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1309
                     /gene="PRRT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..2399
                     /gene="PRRT4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2380..2385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRT4"
                     /note="hexamer: AATAAA"
     polyA_site      2399
                     /gene="PRRT4"
                     /note="major polyA site"
ORIGIN      
        1 agagccggct gccgcggagc cccggcgcgg gcggcttcgc cggggagcga ggctcggagc
       61 caggaggcgg cgccgctggg agggagcgcg gagtgcggag tgcggagcgc ggggcctggc
      121 cgcccgcctg gaccttcctc ctcaaaagct gctgaacaac tgagtccctg cccaccaagg
      181 ccacccgaag ccaggtgggg ccatggccag gcatggctgt ctagggctgg gactgttctg
      241 ctgcgtcctg tttgctgcta ctgtgggccc ccagcccacc ccctccatcc caggtgcccc
      301 tgccaccact ttgacccccg tacctcaaag tgaggcctct atgctgtctc tcaacctggg
      361 acttaacttc aaattccatc ttcggggacc tgctgctgtc tgggggagcc cagtcacaga
      421 gacccagcca ctctctcttg ggccaggcca ggagccaggg gaagaggtgg ccagtgggct
      481 gaggactgac cccctttggg aattgctggt gggctcctca gggaactctc tcactgagtg
      541 gggctccacc gaaggtggct caaagccccg ggcctcctcc ctgcttccgg agtccacatc
      601 ccggcgctct gggcccagcg atgggcccac tgccccctat cagcccagga ggagcactgt
      661 gacctgggac actgctctga tggtgacagc acttccatcc agtgctccca ggccccacca
      721 gagcgagctg gagctgaagt ttgacatggc actgagagca ggtgcagccc ccacgcttgg
      781 gcatcgaacg ctgcccctgc tgcccagcct gcgggccagc ctggcagaga ttgctgggcg
      841 cctgggaccc tttggattct ttggcactac tctgtcccca ctccggaact tctccggcct
      901 gagcccccca ggtgaaacta catccacaag ctctgcctct ggagtttcgg gttctctggg
      961 gttccttggt accactctgt ccctgccccc atactccctg gagaggaagc tctccagccc
     1021 aagtcctctg gacccagctg cttccctaag ttttgcctcg attgcaacaa catcattaga
     1081 ccccacagtc cccatctctg gcccagatga cctctctcct cccgccagcc tcgggaaccc
     1141 ttcggggcag ccagagtgtg ggccagggtc ctgcagcgtg ggagaattgc ctgaacgcga
     1201 ggggcagcct cccgaggcgc cgaggcccct ctttttcctg accctggagg ccgactgggc
     1261 agaggccagg gctcgctggg ggctggcctg ggaggcccac gtgtacgggc gattacaccg
     1321 tggacttccg cccgccctcc ccaatcaacc tgcgacgcag catcgaggag gccctctgca
     1381 gcgaggccct gcttgcgcct ggcctcttcc agggccctgc cttcgaggac gctctgcctg
     1441 ggctcggact ctaccgcacc gcctcgctgg ggaccggggg cagggccagt gagagatcag
     1501 gggaggcctc tggccccgct gcgcccccgg agctcccctc ccctggggct tggcccgcag
     1561 gcagcagcgt ctcatctggc tcgttctgcg gactctcgcg ggacagctcg tccatgctgc
     1621 tgtgttccag ccccgacagg cccccgcgct gccctctggt ctgcgtcctc agtcccccgc
     1681 ggccctcagg aagcagcccc agcctcccgg cctcaggatc ctaccaggcc ctgtccccac
     1741 cctctcgcga ctccccagag cctgcttctg agctgcaggc cgaggaggcc ttgctgcagg
     1801 agcagttcct ggacgcctgc cgacagatcg acgagctgag cgtgggcagc gacaccatag
     1861 acctgtgaag aggtggccac cttgctaccc tgcgatatgc ccctttctgg cgcctgccct
     1921 gcccgagacc tgcacactgt aatccttccc caatcctccc tggctcagat acctctccag
     1981 attccttccc catccagggg tccctgggtg ggtgggtcag cagccaggct ctatcgattg
     2041 ggaatcagtg ccaccttctc tggagccctg ggtgctgatg ccctcagctg caaatctagg
     2101 ttggcagggg tcccattttc cttggcattc accagcaata aagctccaag gtgctccact
     2161 cctgaccacc actccccact ctggtgctga gtgagagggg ctgtcctcag aggaccctgg
     2221 gacctgcctc aggcccccct acccacctct gccatgccta ggaatcccac ccctgtgtga
     2281 atgggactcc ctttcctcca tgtgacaccc acaggggtcc atgacccatc taggagactt
     2341 tatagcagtt gggtgggagg ggaatgctct taatttatca ataaaatatt ttcagagga
//
