LOCUS       NM_001271803            2131 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens receptor accessory protein 2 (REEP2), transcript
            variant 1, mRNA.
ACCESSION   NM_001271803
VERSION     NM_001271803.2
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 2131)
  AUTHORS   Nan,H., Takaki,R., Hata,T., Koh,K. and Takiyama,Y.
  TITLE     A Nepalese family with an REEP2 mutation: clinical and genetic
            study
  JOURNAL   J Hum Genet 66 (7), 749-752 (2021)
   PUBMED   33526816
  REMARK    GeneRIF: A Nepalese family with an REEP2 mutation: clinical and
            genetic study.
REFERENCE   2  (bases 1 to 2131)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2131)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (bases 1 to 2131)
  AUTHORS   Esteves,T., Durr,A., Mundwiller,E., Loureiro,J.L., Boutry,M.,
            Gonzalez,M.A., Gauthier,J., El-Hachimi,K.H., Depienne,C.,
            Muriel,M.P., Acosta Lebrigio,R.F., Gaussen,M., Noreau,A.,
            Speziani,F., Dionne-Laporte,A., Deleuze,J.F., Dion,P., Coutinho,P.,
            Rouleau,G.A., Zuchner,S., Brice,A., Stevanin,G. and Darios,F.
  TITLE     Loss of association of REEP2 with membranes leads to hereditary
            spastic paraplegia
  JOURNAL   Am J Hum Genet 94 (2), 268-277 (2014)
   PUBMED   24388663
  REMARK    GeneRIF: We have identified mutations in REEP2 in two families with
            relatively pure, early-onset hereditary spastic paraplegia, one
            with autosomal-dominant and the other with autosomal-recessive
            transmission.
REFERENCE   5  (bases 1 to 2131)
  AUTHORS   Fong,K.W., Leung,J.W., Li,Y., Wang,W., Feng,L., Ma,W., Liu,D.,
            Songyang,Z. and Chen,J.
  TITLE     MTR120/KIAA1383, a novel microtubule-associated protein, promotes
            microtubule stability and ensures cytokinesis
  JOURNAL   J Cell Sci 126 (Pt 3), 825-837 (2013)
   PUBMED   23264731
REFERENCE   6  (bases 1 to 2131)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   7  (bases 1 to 2131)
  AUTHORS   Ilegems,E., Iwatsuki,K., Kokrashvili,Z., Benard,O., Ninomiya,Y. and
            Margolskee,R.F.
  TITLE     REEP2 enhances sweet receptor function by recruitment to lipid
            rafts
  JOURNAL   J Neurosci 30 (41), 13774-13783 (2010)
   PUBMED   20943918
  REMARK    GeneRIF: In mouse, Reep2 enhances sweet receptor function by a
            different mechanism than Reep1 uses to enhance olfactory receptor
            function.
REFERENCE   8  (bases 1 to 2131)
  AUTHORS   Saito,H., Kubota,M., Roberts,R.W., Chi,Q. and Matsunami,H.
  TITLE     RTP family members induce functional expression of mammalian
            odorant receptors
  JOURNAL   Cell 119 (5), 679-691 (2004)
   PUBMED   15550249
REFERENCE   9  (bases 1 to 2131)
  AUTHORS   Lai,F., Godley,L.A., Joslin,J., Fernald,A.A., Liu,J., Espinosa,R.
            3rd, Zhao,N., Pamintuan,L., Till,B.G., Larson,R.A., Qian,Z. and Le
            Beau,M.M.
  TITLE     Transcript map and comparative analysis of the 1.5-Mb commonly
            deleted segment of human 5q31 in malignant myeloid diseases with a
            del(5q)
  JOURNAL   Genomics 71 (2), 235-245 (2001)
   PUBMED   11161817
REFERENCE   10 (bases 1 to 2131)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC113403.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001271803.1.
            
            Summary: This gene encodes a member of the receptor expression
            enhancing protein family. Studies of a related gene in mouse
            suggest that the encoded protein is found in the cell membrane and
            enhances the function of sweet taste receptors. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AK223611.1, AK056193.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378339.7/ ENSP00000367590.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-184               AC113403.4         68543-68726
            185-257             AC113403.4         70502-70574
            258-334             AC113403.4         70871-70947
            335-455             AC113403.4         73901-74021
            456-569             AC113403.4         74240-74353
            570-717             AC113403.4         74714-74861
            718-848             AC113403.4         74954-75084
            849-2131            AC113403.4         75169-76451
FEATURES             Location/Qualifiers
     source          1..2131
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..2131
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /note="receptor accessory protein 2"
                     /db_xref="GeneID:51308"
                     /db_xref="HGNC:HGNC:17975"
                     /db_xref="MIM:609347"
     exon            1..184
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..917
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /note="isoform 1 is encoded by transcript variant 1;
                     receptor expression-enhancing protein 2"
                     /codon_start=1
                     /product="receptor expression-enhancing protein 2 isoform
                     1"
                     /protein_id="NP_001258732.1"
                     /db_xref="CCDS:CCDS64259.1"
                     /db_xref="GeneID:51308"
                     /db_xref="HGNC:HGNC:17975"
                     /db_xref="MIM:609347"
                     /translation="MVSWIISRLVVLIFGTLYPAYSSYKAVKTKNVKEYVKWMMYWIV
                     FAFFTTAETLTDIVLSWFPFYFELKIAFVIWLLSPYTKGSSVLYRKFVHPTLSNKEKE
                     IDEYITQARDKSYETMMRVGKRGLNLAANAAVTAAAKGQGVLSEKLRSFSMQDLTLIR
                     DEDALPLQRPDGRLRPSPGSLLDTIEDLGDDPALSLRSSTNPADSRTEASEDDMGDKA
                     PKRAKPIKKAPKAEPLASKTLKTRPKKKTSGGGDSA"
     exon            185..257
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     exon            258..334
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     exon            335..455
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     exon            456..569
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     exon            570..717
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     exon            718..848
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     exon            849..2131
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2108..2113
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /note="hexamer: AATAAA"
     polyA_site      2131
                     /gene="REEP2"
                     /gene_synonym="C5orf19; SGC32445; SPG72; SPG72A; SPG72B;
                     Yip2d"
                     /note="major polyA site"
ORIGIN      
        1 ggcgctgggc gctccgctgc ccccgcggcg gctgctgcag cggctgctgc tgctactgcg
       61 gctcctgctg ccgccgccgc cgccgctcgg cctcaggcag ctgcatcctc ggccgggccg
      121 ggtccccgcc ccgcgccgcg cccggccccg ccatggtgtc ctggatcatc tctcgcctgg
      181 tggtgctcat ctttggcacc ctgtacccag cctattcttc ctacaaggcc gtgaagacaa
      241 aaaacgtgaa ggaatatgtg aaatggatga tgtactggat cgtctttgcc ttcttcacca
      301 cggccgagac gctcacggat atagtgctct cctggttccc cttctacttt gaactgaaga
      361 tcgccttcgt gatatggctg ctgtcccctt acaccaaggg ctccagcgtg ctctaccgca
      421 agttcgtgca cccaacgctg tccaacaagg agaaggagat cgacgagtac atcacgcagg
      481 cccgagacaa gagctatgag accatgatga gggtgggcaa gaggggcctg aaccttgccg
      541 ccaatgctgc agtcacagct gccgccaagg gccagggggt gctgtcagag aagctccgca
      601 gcttcagcat gcaggacctg accctgatcc gggacgagga cgcactgccc ctgcagaggc
      661 ctgacggccg cctccgaccc agccctggca gcctcctgga caccatcgag gacttaggag
      721 atgaccctgc cctgagtcta aggtccagca caaacccggc agattcccgg acagaggctt
      781 ctgaggatga catgggagac aaagctccca agagggccaa acccatcaaa aaagcgccca
      841 aagctgagcc actggcttcc aagacactga agacccggcc caagaagaag acctctggcg
      901 ggggcgactc agcttgagcc cctccacccc cgcaggctgc agagcaagga tgaagcctca
      961 ggaggggcct cagacccagc ccctgctcca cactgtgcca gtagcctagg tgtctcaggc
     1021 ccctgggccc cgcagatggc catttccggt gcctgcccag tggccactct tctggaaggg
     1081 gcttggaaaa gaggaaggag gcccagctgt gggggttgag ggtagagggt ggaccagagg
     1141 ctgaggactg agccacccaa ggaggtgggg actgctcggc ctccaccgct gttccgctgc
     1201 agccccgccc tgccccaccc acccagtgcc ttgctgaagc ccatagcaat ccgcttctca
     1261 gaggtcctgt cgtgtttcca ctgctcgcct tggtttggga gcagggaggg ggaagtccta
     1321 gcccagatgg accaaggacg ggcctgaagg cacatggggg aaagggagca cacggggagg
     1381 acgttgggga ccctgggtgg ggcctccagg tgcagctgtg gatggaagac agggattggc
     1441 ctgtgcttca gcgaccagga tggccaggcc agagctgcag ctgggggctc ttttcctggt
     1501 cattgggtgg ggctgagtgc cacatgttcc cacattaaaa aggggggtcc agggctgtgt
     1561 gagtgtgtct ttctgggtct agggctcggg gtagtttggg tcaaggactg tccctccagc
     1621 agtcgcctcc tcccaccctg agccccacag tcatctggcc ctttccctgc tcaaccctcc
     1681 atcctaggct ctgagcctca gaggacccag cccatgagag aacggggatc tggggggcct
     1741 ctcacctgct cctatgacct tgctcccttt taggtcaccc cattgccacc gtgcccctgg
     1801 gctggactcc cgtgctcctc agggcccacc cctgctctgt ctggtacagg cccctgctga
     1861 gtgggcccct ctcctctgcc cctggggtcc atcccctctt gcccagggtc cccatcctgt
     1921 accaagcaga ctgggcccta agacccctgg cagaacccag cctctgctca cacccgcccc
     1981 agcttctgcc acggcttcag tcagggccag gaggaacacg tgaaggagaa agagaaatgc
     2041 aggagccgcg gggctcccgg ttccttggga agagggtgcc cattggacct ttggcactgg
     2101 atgagccaat aaaccaaact ctggcacctc a
//
