LOCUS       NM_015307               4963 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens endosomal transmembrane epsin interactor 2 (ENTREP2),
            transcript variant 1, mRNA.
ACCESSION   NM_015307 XM_001713870 XM_001716797
VERSION     NM_015307.2
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 4963)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (bases 1 to 4963)
  AUTHORS   Murray,S.S., Smith,E.N., Villarasa,N., Nahey,T., Lande,J.,
            Goldberg,H., Shaw,M., Rosenthal,L., Ramza,B., Alaeddini,J., Han,X.,
            Damani,S., Soykan,O., Kowal,R.C. and Topol,E.J.
  CONSRTM   GAME Investigators
  TITLE     Genome-wide association of implantable cardioverter-defibrillator
            activation with life-threatening arrhythmias
  JOURNAL   PLoS One 7 (1), e25387 (2012)
   PUBMED   22247754
REFERENCE   3  (bases 1 to 4963)
  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   4  (bases 1 to 4963)
  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
            AC102941.9, AC107980.8, AC061965.16 and AC024474.8.
            
            On Sep 24, 2020 this sequence version replaced NM_015307.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968832
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261275.5/ ENSP00000261275.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-475               AC102941.9         76450-76924         c
            476-532             AC107980.8         39192-39248
            533-643             AC061965.16        127909-128019       c
            644-778             AC061965.16        71971-72105         c
            779-886             AC061965.16        27274-27381         c
            887-1047            AC061965.16        12574-12734         c
            1048-1183           AC061965.16        11906-12041         c
            1184-1259           AC024474.8         4974-5049
            1260-1484           AC024474.8         7347-7571
            1485-1559           AC024474.8         9077-9151
            1560-4963           AC024474.8         10183-13586
FEATURES             Location/Qualifiers
     source          1..4963
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.1"
     gene            1..4963
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /note="endosomal transmembrane epsin interactor 2"
                     /db_xref="GeneID:23359"
                     /db_xref="HGNC:HGNC:29075"
                     /db_xref="MIM:620052"
     exon            1..475
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     CDS             257..1876
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transmembrane protein 228; protein FAM189A1; family with
                     sequence similarity 189 member A1; protein ENTREP2"
                     /codon_start=1
                     /product="protein ENTREP2 isoform 1"
                     /protein_id="NP_056122.1"
                     /db_xref="CCDS:CCDS45198.1"
                     /db_xref="GeneID:23359"
                     /db_xref="HGNC:HGNC:29075"
                     /db_xref="MIM:620052"
                     /translation="MPPAGGPRAPRPAALPRSLSRLRECPGRSRIVLALGATQMALGC
                     LIVAVSFAALALTTSARVRHSCPFWAGFSVLLSGLIGVVSWKRPLSLVITFFMLLSAV
                     CVMLNLAGSILSCQNAQLVNSLEGCQLIKFDSVEVCVCCELQHQSSGCSNLGETLKLN
                     PLQENCNAVRLTLKDLLFSVCALNVLSTIVCALATAMCCMQMVSSDVLQMFLPQRSHP
                     ANPTCVTPHGTVLHQTLDFDEFIPPLPPPPYYPPEYTCTPSTEAQRGLHLDFAPSPFG
                     TLYDVAINSPGLLYPAELPPPYEAVVGQPPASQVTSIGQQVAESSSGDPNTSAGFSTP
                     VPADSTSLLVSEGTATPGSSPSPDGPVGAPAPSEPALPPGHVSPEDPGMGSQVQPGPG
                     RVSRSTSDPTLCTSSMAGDASSHRPSCSQDLEAGLSEAVPGSASMSRSATAACRAQLS
                     PAGDPDTWKTDQRPTPEPFPATSKERPRSLVDSKAYADARVLVAKFLEHSHCALPTEA
                     QHMVGAMRLAVTNEERLEEEAVFGADVLDQV"
     exon            476..532
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            533..643
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            644..778
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            779..886
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            887..1047
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1183
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1259
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1484
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1559
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..4963
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4941..4946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /note="hexamer: AATAAA"
     polyA_site      4963
                     /gene="ENTREP2"
                     /gene_synonym="FAM189A1; TMEM228"
                     /note="major polyA site"
ORIGIN      
        1 agggcgcagc gcggcgcggc cggcgggcgg gcggcgcggc ggcggcggca tgggcgcggg
       61 caccggcggg ggctgcgggc gcccggctcc ccgcccggcc cggcccgctc ccggcgcgcg
      121 gccgccgcag ccctggcagc cggctgggag gccgtccctg cacccggcgc aacttgcctc
      181 ggaccctctg tgaggagagg cggcggcgcg cgccgggccg ggcgggagcg ggcgaggcgt
      241 gcgggcgccc ggcgcgatgc ctccggccgg cggcccccga gcgccgcgtc ccgccgcgct
      301 gccccgcagc ctgtcccgcc tgcgcgagtg cccgggccgc tcccgcatcg tgctggcgct
      361 cggggccacg cagatggcgc tcggatgcct catcgtggca gtcagcttcg ccgcgctggc
      421 gctcaccacc tcggcccgcg tccgccactc ctgccccttc tgggcaggct tctcggtgct
      481 gctgtcggga ctcataggtg tcgtctcctg gaagaggcct ctctcccttg tgataacctt
      541 tttcatgctg ctttctgcag tgtgtgtaat gctgaatttg gctggttcaa ttctctcttg
      601 tcagaatgct cagctagtca actccctaga aggctgccag ttgattaagt ttgacagtgt
      661 ggaggtgtgt gtctgctgtg agctgcagca ccagtcgtcc ggctgcagca acctcgggga
      721 gacgctgaag ctgaacccgc tgcaggagaa ctgcaacgct gtgaggctga ccttgaagga
      781 tctcctcttc agcgtgtgtg ccctcaacgt cctgtccact atcgtgtgtg cgctggccac
      841 agccatgtgc tgtatgcaga tggtctcctc cgatgtcctg cagatgttcc ttccgcagag
      901 gtcacatcct gccaacccca cctgcgtgac tcctcacggc accgttctcc accagaccct
      961 ggatttcgac gagttcatcc ccccactccc gcctccaccc tattaccccc cagagtacac
     1021 ctgcacaccg tccactgagg cccagagggg cctccacctg gactttgctc cgtctccatt
     1081 cggcactttg tatgacgtgg ccatcaatag ccccggcctg ctctatcctg ctgagctccc
     1141 ccctccgtac gaggcggtgg tgggccagcc ccctgccagc caggttacaa gtataggtca
     1201 gcaggtggcc gagtccagct ccggggaccc aaacaccagt gctggcttca gcactccagt
     1261 accagctgac agcacaagcc tcctggtgtc cgagggcact gctacgccag gttccagccc
     1321 atcccccgat ggccctgtgg gcgccccagc accctccgaa cctgcccttc cccctggcca
     1381 tgtgtctcca gaggatcctg gcatgggctc acaggtgcag ccaggtcccg ggcgtgtgtc
     1441 ccgctccacc agcgacccca ccttgtgcac atctagcatg gcaggcgatg cctcttcaca
     1501 caggccgtcg tgtagccagg acctggaagc gggactgtct gaggctgtgc ctgggagcgc
     1561 ttccatgtct cgctctgcca cggctgcctg tcgggcccag ctttcaccag cgggggaccc
     1621 agatacctgg aaaactgacc aacggccaac accagagccc ttcccagcga cctccaaaga
     1681 gcggccacgc tctttagtgg acagcaaggc ctatgcggat gccagggttt tggtggccaa
     1741 gtttttggaa cactcacact gtgccctccc caccgaggca cagcacatgg tgggtgccat
     1801 gcgcttggct gtcaccaacg aggagcgcct cgaggaggag gccgtcttcg gcgctgacgt
     1861 tctggaccag gtatgaagga gccacatttc tgaccgtgga caccaacgcc tggcgccaca
     1921 gatgttcttg gcagaagcca tcatgcctga caaagaggcc ttcaggccca gcttggcgga
     1981 ggataaatgt gggggggaca cccaggatga tctgggggcg gtgtgggcag ggaactgtta
     2041 ccccctctct cgaggggagc cgagcagtgt ctctttgggg attgcatttc ctgcctagcc
     2101 cagtaattcg gaaagatgac tttcacgtcc acagtgaact ctctggtttt atctggcgtg
     2161 cagcaccttg aactgagcag tgttgcacaa atgtgaatac agcaacaggc gacacttacg
     2221 tcacctaaag actcaaagta tctccaaaat cagggccttc caaagcagga gtctcccatc
     2281 ccccatttaa cttagtgttc agtggacaga gggtgacatc gagtcatgaa acattttctc
     2341 atgtggctcg atggctctat cattaggcgt tcatcacgct ctggcctatt tcctgtgaaa
     2401 ggaaataggt agtgttagca cagatggcag cctgggccca actttctgtc cacagggcta
     2461 ttgtgcaaac aaatgtgcag tgcgggcctc tgccatagcc cggccccccc cagggaacag
     2521 gccggtgttg cgggggttgg aggaacccac catctcctgg gccttgagct cggcctccct
     2581 ccgtggggtg ccttcccccc ctcctcttgg gccccctttc tccaggctcc catcctgtcc
     2641 ctggagcagt tgtgtgatcc gtaacaacaa gtgccgattc ccagctcctt tgtgtctgag
     2701 ctcacttgat tgagctcagc gggtcacagt tctgcaggag agaggccggt ttctctgaga
     2761 agtagcccct cctgataaag caggtccctt tgacccagag ctgacctttc cccgggcatg
     2821 cggcagcaga cacacctgcg caggaggatc ataaaccact tacaaaccca cacgagaagg
     2881 gaagcagaca cccaacgtgc tgcttatgga gaagcagaca cgcccagctt ggggacagcc
     2941 tggggacctt ggactttctt agcccccatc cccttgtttt ctggtggcat cagtggcagc
     3001 tgctcccaac aatggccgtg gaacagcgcc atccacgaga actttgtgca gtgatggaaa
     3061 tgcctgttca gggccactag cagccacagc ccctgagctg cgttgggtgg gccctgcggt
     3121 gaacaaaaca gcctagaggc caaggtctcc ccagagagcc catgagcctg gcatgggggc
     3181 gcagggggac cagagggtgt cttccactcc tgggtgccag ggcagggggc tcacgctgct
     3241 gttccctcgg ctttgtgggg cttgtccttg agctccccca attccctaat gccactgtgg
     3301 ccagtgtgct ggggagcttc tgtgtggctg gaagctggga agggggtgag gttccaatcc
     3361 aggtgcccag agccttcctc cagtccttta tccctgccct gggggctgcg gtgtgggact
     3421 ccttcagctg tggtcggctg aaaaggcttc gattgcttta gagagctgaa aacacataag
     3481 ccaggccttt tgatgacaac ctgcactttt gcaggagaga cgtactagag atgaattttt
     3541 gagcacttta ttcagactat aaaacaggaa atctctaatt ttcctcaagt gggggctttt
     3601 gaattccctc aaggcaagtc cctttgcagg tgaaattaat tggtggattt tcagaatggc
     3661 cgccctggag ccgagcttca gccacgcctg acgccctggc ctctgaatct ccactgtctc
     3721 tgaggtgcgc tggggccacg ccgcaggggt ttcacctgct tgggggggtc cacactaggg
     3781 cttgggggtt cacacagcat tgtccctggg ctgagccctt gggtgggcta gagctgcagt
     3841 cctcagacat ggctgcaatt ccagcgaggc caagaccacc agccacccag tggactcggt
     3901 ctctggggtg ttctcctcat gcagccgggg cagaggccta ctggaccccc tcagcctgct
     3961 gctcagcatc cttcccttct ctgcagcagg gcccggtccc aatggccaat ggggctgctg
     4021 ccccagcagt gcctccctgt aggcccctca cctgcacccc accttcaccc agctctgggt
     4081 ttgcgctggt ggcagctctg ttttgtggat acggaaactg tacccaactt gatgccgctg
     4141 ggctggaacc ttctgcccct tcgaaatgag gcagtcaggg acggggtggg gtgcccccat
     4201 cagccccgct gctcagggcc actcatggac tctaggaggg tccaggttct gggcttcctg
     4261 ggaaggtccc cagaagagag aggtgctggt agactaggga atgtgctggc aacttgaccc
     4321 agaagctgtg gtccccttgg ccccggctcc acggcatccg ggtaccagca gcaagagccc
     4381 aggccccggg ctgcacgtca gctcacagcc caggagaaag ctggctgctt cccctcccta
     4441 tgcgtctttc ccccgctcca atcatgttcc atctgggatc tgaaatgggc caactgtggc
     4501 tgctttgggg gtgacacgct ccttctccaa ctcagctggg ccccgggcat cccctgccct
     4561 cccctgagac ccaaaggggg ttggcacctg ctgtgacacc accgttgacc ccagcctggg
     4621 ggccacaagg ttgctgagtg gggagaacat ggaccccaac tctatggcaa gcaagatcgc
     4681 agaaggggga gcatcatccg caaggacttc aggtctccct tggctggaga tgaggatcca
     4741 cattaaatgc ttgtaacaca ccaggccaca gaaagctcgc tacacacaca tgcttctccc
     4801 cacccatgct gactctcaga ggctgctaag gcagaattta taggaaattg ttttcaagcc
     4861 accagagacc tgtctgtaca actggaaagg ctgtatttat ttaatgtacc tcaaggtgtt
     4921 ttaataatga tccgtgtttt aataaaaaga agtatttctg gcc
//
