LOCUS       NM_001349884            2098 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens DNA damage regulated autophagy modulator 2 (DRAM2),
            transcript variant 4, mRNA.
ACCESSION   NM_001349884 XM_005270469
VERSION     NM_001349884.2
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 2098)
  AUTHORS   Krasovec,T., Volk,M., Sustar Habjan,M., Hawlina,M., Vidovic
            Valentincic,N. and Fakin,A.
  TITLE     The Clinical Spectrum and Disease Course of DRAM2 Retinopathy
  JOURNAL   Int J Mol Sci 23 (13), 7398 (2022)
   PUBMED   35806404
  REMARK    GeneRIF: The Clinical Spectrum and Disease Course of DRAM2
            Retinopathy.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2098)
  AUTHORS   Kuniyoshi,K., Hayashi,T., Kameya,S., Katagiri,S., Mizobuchi,K.,
            Tachibana,T., Kubota,D., Sakuramoto,H., Tsunoda,K., Fujinami,K.,
            Yoshitake,K., Iwata,T., Nakano,T. and Kusaka,S.
  TITLE     Clinical Course and Electron Microscopic Findings in Lymphocytes of
            Patients with DRAM2-Associated Retinopathy
  JOURNAL   Int J Mol Sci 21 (4), 1331 (2020)
   PUBMED   32079136
  REMARK    GeneRIF: Clinical Course and Electron Microscopic Findings in
            Lymphocytes of Patients with DRAM2-Associated Retinopathy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2098)
  AUTHORS   Abad-Morales,V., Bures-Jelstrup,A., Navarro,R., Ruiz-Nogales,S.,
            Mendez-Vendrell,P., Corcostegui,B. and Pomares,E.
  TITLE     Characterization of the cone-rod dystrophy retinal phenotype caused
            by novel homozygous DRAM2 mutations
  JOURNAL   Exp Eye Res 187, 107752 (2019)
   PUBMED   31394102
  REMARK    GeneRIF: Three novel homozygous mutations in the autophagy gene
            DRAM2 were identified as the molecular cause of disease in the
            three families: c.518-1G>A, c.628_629insAG and c.693+2T>A.
REFERENCE   4  (bases 1 to 2098)
  AUTHORS   Kim,J.K., Lee,H.M., Park,K.S., Shin,D.M., Kim,T.S., Kim,Y.S.,
            Suh,H.W., Kim,S.Y., Kim,I.S., Kim,J.M., Son,J.W., Sohn,K.M.,
            Jung,S.S., Chung,C., Han,S.B., Yang,C.S. and Jo,E.K.
  TITLE     MIR144* inhibits antimicrobial responses against Mycobacterium
            tuberculosis in human monocytes and macrophages by targeting the
            autophagy protein DRAM2
  JOURNAL   Autophagy 13 (2), 423-441 (2017)
   PUBMED   27764573
  REMARK    GeneRIF: Mycobacterium tuberculosis significantly induces the
            expression of MIR144*/hsa-miR-144-5p, which targets the
            3'-untranslated region of DRAM2.
REFERENCE   5  (bases 1 to 2098)
  AUTHORS   Pierdominici,M., Maselli,A., Locatelli,S.L., Ciarlo,L., Careddu,G.,
            Patrizio,M., Ascione,B., Tinari,A., Carlo-Stella,C., Malorni,W.,
            Matarrese,P. and Ortona,E.
  TITLE     Estrogen receptor beta ligation inhibits Hodgkin lymphoma growth by
            inducing autophagy
  JOURNAL   Oncotarget 8 (5), 8522-8535 (2017)
   PUBMED   28052027
REFERENCE   6  (bases 1 to 2098)
  AUTHORS   Salo,P.P., Vaara,S., Kettunen,J., Pirinen,M., Sarin,A.P.,
            Huikuri,H., Karhunen,P.J., Eskola,M., Nikus,K., Lokki,M.L.,
            Ripatti,S., Havulinna,A.S., Salomaa,V., Palotie,A., Nieminen,M.S.,
            Sinisalo,J. and Perola,M.
  TITLE     Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST
            Elevation Myocardial Infarction and the Expression of DRAM2 in the
            Finnish Population
  JOURNAL   PLoS One 10 (10), e0140576 (2015)
   PUBMED   26509668
  REMARK    GeneRIF: Genetic variants on chromosome 1p13.3 near the
            damage-regulated autophagy modulator 2 gene DRAM2 associated with
            Non-ST Elevation Myocardial Infarction (rs656843; odds ratio 1.57,
            P = 3.11 x 10(-10)) in the case-control analysis.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2098)
  AUTHORS   El-Asrag,M.E., Sergouniotis,P.I., McKibbin,M., Plagnol,V.,
            Sheridan,E., Waseem,N., Abdelhamed,Z., McKeefry,D., Van Schil,K.,
            Poulter,J.A., Johnson,C.A., Carr,I.M., Leroy,B.P., De Baere,E.,
            Inglehearn,C.F., Webster,A.R., Toomes,C. and Ali,M.
  CONSRTM   UK Inherited Retinal Disease Consortium
  TITLE     Biallelic mutations in the autophagy regulator DRAM2 cause retinal
            dystrophy with early macular involvement
  JOURNAL   Am J Hum Genet 96 (6), 948-954 (2015)
   PUBMED   25983245
  REMARK    GeneRIF: Biallelic mutations in the autophagy regulator DRAM2 cause
            retinal dystrophy with early macular involvement.
REFERENCE   8  (bases 1 to 2098)
  AUTHORS   Yoon,J.H., Her,S., Kim,M., Jang,I.S. and Park,J.
  TITLE     The expression of damage-regulated autophagy modulator 2 (DRAM2)
            contributes to autophagy induction
  JOURNAL   Mol Biol Rep 39 (2), 1087-1093 (2012)
   PUBMED   21584698
  REMARK    GeneRIF: The expression of damage-regulated autophagy modulator 2
            (DRAM2) contributes to autophagy induction.
REFERENCE   9  (bases 1 to 2098)
  AUTHORS   Park,S.M., Kim,K., Lee,E.J., Kim,B.K., Lee,T.J., Seo,T., Jang,I.S.,
            Lee,S.H., Kim,S., Lee,J.H. and Park,J.
  TITLE     Reduced expression of DRAM2/TMEM77 in tumor cells interferes with
            cell death
  JOURNAL   Biochem Biophys Res Commun 390 (4), 1340-1344 (2009)
   PUBMED   19895784
  REMARK    GeneRIF: reduced expression of DRAM2 may contribute to enhanced
            cell survival in tumor cells.
REFERENCE   10 (bases 1 to 2098)
  AUTHORS   O'Prey,J., Skommer,J., Wilkinson,S. and Ryan,K.M.
  TITLE     Analysis of DRAM-related proteins reveals evolutionarily conserved
            and divergent roles in the control of autophagy
  JOURNAL   Cell Cycle 8 (14), 2260-2265 (2009)
   PUBMED   19556885
  REMARK    GeneRIF: DRAM2 is different from DRAM as it not induced by p53 or
            p73. DRAM2 is also a lysosomal protein, its overexpression does not
            modulate autophagy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355816.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 15, 2020 this sequence version replaced NM_001349884.1.
            
            Summary: The protein encoded by this gene binds
            microtubule-associated protein 1 light chain 3 and is required for
            autophagy. Defects in this gene are a cause of retinal dystrophy.
            In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can
            bind to the mRNA of this gene and produce the disease state.
            [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (4), as well as variants 1-3 and
            5, encodes isoform a.
            
            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 :: SRR5189667.267242.1,
                                           SRR18074967.917962.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000484310.6/ ENSP00000503400.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AL355816.14        60075-60130         c
            57-222              AL355816.14        59538-59703         c
            223-286             AL355816.14        57560-57623         c
            287-431             AL355816.14        51461-51605         c
            432-499             AL355816.14        46264-46331         c
            500-639             AL355816.14        44779-44918         c
            640-817             AL355816.14        40553-40730         c
            818-900             AL355816.14        39914-39996         c
            901-993             AL355816.14        38842-38934         c
            994-2098            AL355816.14        37200-38304         c
FEATURES             Location/Qualifiers
     source          1..2098
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..2098
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /note="DNA damage regulated autophagy modulator 2"
                     /db_xref="GeneID:128338"
                     /db_xref="HGNC:HGNC:28769"
                     /db_xref="MIM:613360"
     exon            1..56
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            57..222
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            223..286
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            287..431
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     CDS             301..1101
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /note="isoform a is encoded by transcript variant 4;
                     transmembrane protein 77; DNA damage-regulated autophagy
                     modulator protein 2; damage regulated autophagy modulator
                     2"
                     /codon_start=1
                     /product="DNA damage-regulated autophagy modulator protein
                     2 isoform a"
                     /protein_id="NP_001336813.1"
                     /db_xref="CCDS:CCDS30801.1"
                     /db_xref="GeneID:128338"
                     /db_xref="HGNC:HGNC:28769"
                     /db_xref="MIM:613360"
                     /translation="MWWFQQGLSFLPSALVIWTSAAFIFSYITAVTLHHIDPALPYIS
                     DTGTVAPEKCLFGAMLNIAAVLCIATIYVRYKQVHALSPEENVIIKLNKAGLVLGILS
                     CLGLSIVANFQKTTLFAAHVSGAVLTFGMGSLYMFVQTILSYQMQPKIHGKQVFWIRL
                     LLVIWCGVSALSMLTCSSVLHSGNFGTDLEQKLHWNPEDKGYVLHMITTAAEWSMSFS
                     FFGFFLTYIRDFQKISLRVEANLHGLTLYDTAPCPINNERTRLLSRDI"
     exon            432..499
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            500..639
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            640..817
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            818..900
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            901..993
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     exon            994..2098
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1334..1339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /note="hexamer: AATAAA"
     polyA_site      1354
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /note="major polyA site"
     regulatory      1911..1916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /note="hexamer: AATAAA"
     polyA_site      1929
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
     regulatory      2070..2075
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
                     /note="hexamer: ATTAAA"
     polyA_site      2098
                     /gene="DRAM2"
                     /gene_synonym="CORD21; PRO180; TMEM77; WWFQ154"
ORIGIN      
        1 ctccttttag cataggggct tcggcgccag cggccagcgc tagtcggtct ggtaaggcaa
       61 agcggagcgg agatcctcaa acggcctagt gcttcgcgct tccggagaaa atcagcggtc
      121 taattaattc ctctggtttg ttgaagcagt taccaagaat cttcaaccct ttcccacaaa
      181 agctaattga gtacacgttc ctgttgagta cacgttcctg ttgatttaca aaaggtgcag
      241 gtatgagcag gtctgaagac taacattttg tgaagttgta aaacagaaaa cctgttagaa
      301 atgtggtggt ttcagcaagg cctcagtttc cttccttcag cccttgtaat ttggacatct
      361 gctgctttca tattttcata cattactgca gtaacactcc accatataga cccggcttta
      421 ccttatatca gtgacactgg tacagtagct ccagaaaaat gcttatttgg ggcaatgcta
      481 aatattgcgg cagttttatg cattgctacc atttatgttc gttataagca agttcatgct
      541 ctgagtcctg aagagaacgt tatcatcaaa ttaaacaagg ctggccttgt acttggaata
      601 ctgagttgtt taggactttc tattgtggca aacttccaga aaacaaccct ttttgctgca
      661 catgtaagtg gagctgtgct tacctttggt atgggctcat tatatatgtt tgttcagacc
      721 atcctttcct accaaatgca gcccaaaatc catggcaaac aagtcttctg gatcagactg
      781 ttgttggtta tctggtgtgg agtaagtgca cttagcatgc tgacttgctc atcagttttg
      841 cacagtggca attttgggac tgatttagaa cagaaactcc attggaaccc cgaggacaaa
      901 ggttatgtgc ttcacatgat cactactgca gcagaatggt ctatgtcatt ttccttcttt
      961 ggttttttcc tgacttacat tcgtgatttt cagaaaattt ctttacgggt ggaagccaat
     1021 ttacatggat taaccctcta tgacactgca ccttgcccta ttaacaatga acgaacacgg
     1081 ctactttcca gagatatttg atgaaaggat aaaatatttc tgtaatgatt atgattctca
     1141 gggattgggg aaaggttcac agaagttgct tattcttctc tgaaattttc aaccacttaa
     1201 tcaaggctga cagtaacact gatgaatgct gataatcagg aaacatgaaa gaagccattt
     1261 gatagattat tctaaaggat atcatcaaga agactattaa aaacacctat gcctatactt
     1321 ttttatctca gaaaataaag tcaaaagact atgatatcat agttttttat accttattta
     1381 agagaaacaa cctgacgtgc accaatcagt ctgcacatcc caacccttca cattttataa
     1441 attattgtag atcatgtttt gttaggagca cttttatgag agacattttc catgactaaa
     1501 taatcagcat tagtcagtaa atcctttaga actgggtttt gaaatgggag ttttatcata
     1561 ttaaatcatt tcttgtagtc ttacattttt tgttgttgtt ctggaatcta cctgtaaagg
     1621 aaagtagacc tggattcatg tgggctcttc catggcttaa gtgttgccca agagattttg
     1681 taggtaacga tttttttttt tctggccaca atgccagata ctaagctaat tggtctatca
     1741 tacacatgct tgcagtagtt tcatgaagtt tagtctctgg cgtgaaattt taatcaccaa
     1801 tgaaggagag aggcacctgt aggtaaattt actttagtca tattttatat aaaacaaggg
     1861 ttagtattca tgtaacattg agaagtttgg gaataacagc agatatgatt aataaaagtc
     1921 ataaccatac tcaagagctt cttagatttt catttatggc aagttataat tacatgtaaa
     1981 agtagtcttg aacaggtaaa tattgagcct ttttaatagg atgtaacctt tgtagagccc
     2041 aaattctaaa gaacaaaatt ggcaatccaa ttaaactaca tgcaaaataa gtgtgata
//
