LOCUS       NM_018217               1884 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ER degradation enhancing alpha-mannosidase like
            protein 2 (EDEM2), transcript variant 1, mRNA.
ACCESSION   NM_018217
VERSION     NM_018217.3
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 1884)
  AUTHORS   Alhaidan,Y., Christesen,H.T., Hojlund,K., Al Balwi,M.A. and
            Brusgaard,K.
  TITLE     A novel gene in early childhood diabetes: EDEM2 silencing decreases
            SLC2A2 and PXD1 expression, leading to impaired insulin secretion
  JOURNAL   Mol Genet Genomics 295 (5), 1253-1262 (2020)
   PUBMED   32556999
  REMARK    GeneRIF: A novel gene in early childhood diabetes: EDEM2 silencing
            decreases SLC2A2 and PXD1 expression, leading to impaired insulin
            secretion.
REFERENCE   2  (bases 1 to 1884)
  AUTHORS   George,G., Ninagawa,S., Yagi,H., Saito,T., Ishikawa,T., Sakuma,T.,
            Yamamoto,T., Imami,K., Ishihama,Y., Kato,K., Okada,T. and Mori,K.
  TITLE     EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first
            mannose trimming step in mammalian glycoprotein ERAD
  JOURNAL   Elife 9, e53455 (2020)
   PUBMED   32065582
  REMARK    GeneRIF: EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the
            first mannose trimming step in mammalian glycoprotein ERAD.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1884)
  AUTHORS   Ninagawa,S., Okada,T., Sumitomo,Y., Kamiya,Y., Kato,K.,
            Horimoto,S., Ishikawa,T., Takeda,S., Sakuma,T., Yamamoto,T. and
            Mori,K.
  TITLE     EDEM2 initiates mammalian glycoprotein ERAD by catalyzing the first
            mannose trimming step
  JOURNAL   J Cell Biol 206 (3), 347-356 (2014)
   PUBMED   25092655
  REMARK    GeneRIF: Glycoproteins mannose trimming from Man9GlcNAc2 to
            Man8GlcNAc2 is conducted mainly by EDEM2.
REFERENCE   4  (bases 1 to 1884)
  AUTHORS   Tang,H.Y., Huang,C.H., Zhuang,Y.H., Christianson,J.C. and Chen,X.
  TITLE     EDEM2 and OS-9 are required for ER-associated degradation of
            non-glycosylated sonic hedgehog
  JOURNAL   PLoS One 9 (6), e92164 (2014)
   PUBMED   24910992
  REMARK    GeneRIF: EDEM2 and OS-9 are required for ER-associated degradation
            of non-glycosylated sonic hedgehog
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1884)
  AUTHORS   Slominska-Wojewodzka,M., Pawlik,A., Sokolowska,I., Antoniewicz,J.,
            Wegrzyn,G. and Sandvig,K.
  TITLE     The role of EDEM2 compared with EDEM1 in ricin transport from the
            endoplasmic reticulum to the cytosol
  JOURNAL   Biochem J 457 (3), 485-496 (2014)
   PUBMED   24200403
REFERENCE   6  (bases 1 to 1884)
  AUTHORS   Tang,W., Basu,S., Kong,X., Pankow,J.S., Aleksic,N., Tan,A.,
            Cushman,M., Boerwinkle,E. and Folsom,A.R.
  TITLE     Genome-wide association study identifies novel loci for plasma
            levels of protein C: the ARIC study
  JOURNAL   Blood 116 (23), 5032-5036 (2010)
   PUBMED   20802025
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1884)
  AUTHORS   Caramelo,J.J. and Parodi,A.J.
  TITLE     Getting in and out from calnexin/calreticulin cycles
  JOURNAL   J Biol Chem 283 (16), 10221-10225 (2008)
   PUBMED   18303019
  REMARK    Review article
REFERENCE   8  (bases 1 to 1884)
  AUTHORS   Olivari,S. and Molinari,M.
  TITLE     Glycoprotein folding and the role of EDEM1, EDEM2 and EDEM3 in
            degradation of folding-defective glycoproteins
  JOURNAL   FEBS Lett 581 (19), 3658-3664 (2007)
   PUBMED   17499246
  REMARK    Review article
REFERENCE   9  (bases 1 to 1884)
  AUTHORS   Mast,S.W., Diekman,K., Karaveg,K., Davis,A., Sifers,R.N. and
            Moremen,K.W.
  TITLE     Human EDEM2, a novel homolog of family 47 glycosidases, is involved
            in ER-associated degradation of glycoproteins
  JOURNAL   Glycobiology 15 (4), 421-436 (2005)
   PUBMED   15537790
  REMARK    GeneRIF: Overexpression of EDEM2 accelerates the degradation of
            misfolded alpha1-antitrypsin, indicating that the protein is
            involved in endoplasmic reticulum associated degradation.
            GeneRIF: Degrades misfolded alpha1-antitrypsin in the ER.
            Erratum:[Glycobiology. 2005 May;15(5):13G]
REFERENCE   10 (bases 1 to 1884)
  AUTHORS   Olivari,S., Galli,C., Alanen,H., Ruddock,L. and Molinari,M.
  TITLE     A novel stress-induced EDEM variant regulating endoplasmic
            reticulum-associated glycoprotein degradation
  JOURNAL   J Biol Chem 280 (4), 2424-2428 (2005)
   PUBMED   15579471
  REMARK    GeneRIF: EDEM2 regulates endoplasmic reticulum-associated
            glycoprotein degradation
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP297100.1, BC001371.2 and BU188881.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018217.2.
            
            Summary: In the endoplasmic reticulum (ER), misfolded proteins are
            retrotranslocated to the cytosol and degraded by the proteasome in
            a process known as ER-associated degradation (ERAD). EDEM2 belongs
            to a family of proteins involved in ERAD of glycoproteins (Mast et
            al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008].
            
            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 :: SRR5189658.136825.1, AK001645.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374492.8/ ENSP00000363616.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BP297100.1         23-33
            12-1443             BC001371.2         1-1432
            1444-1884           BU188881.1         115-555
FEATURES             Location/Qualifiers
     source          1..1884
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..1884
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /note="ER degradation enhancing alpha-mannosidase like
                     protein 2"
                     /db_xref="GeneID:55741"
                     /db_xref="HGNC:HGNC:15877"
                     /db_xref="MIM:610302"
     exon            1..185
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1815
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; ER degradation-enhancing-mannosidase-like
                     protein 2; ER degradation-enhancing alpha-mannosidase-like
                     2; ER degradation enhancer, mannosidase alpha-like 2"
                     /codon_start=1
                     /product="ER degradation-enhancing alpha-mannosidase-like
                     protein 2 isoform 1 precursor"
                     /protein_id="NP_060687.2"
                     /db_xref="CCDS:CCDS13247.1"
                     /db_xref="GeneID:55741"
                     /db_xref="HGNC:HGNC:15877"
                     /db_xref="MIM:610302"
                     /translation="MPFRLLIPLGLLCALLPQHHGAPGPDGSAPDPAHYRERVKAMFY
                     HAYDSYLENAFPFDELRPLTCDGHDTWGSFSLTLIDALDTLLILGNVSEFQRVVEVLQ
                     DSVDFDIDVNASVFETNIRVVGGLLSAHLLSKKAGVEVEAGWPCSGPLLRMAEEAARK
                     LLPAFQTPTGMPYGTVNLLHGVNPGETPVTCTAGIGTFIVEFATLSSLTGDPVFEDVA
                     RVALMRLWESRSDIGLVGNHIDVLTGKWVAQDAGIGAGVDSYFEYLVKGAILLQDKKL
                     MAMFLEYNKAIRNYTRFDDWYLWVQMYKGTVSMPVFQSLEAYWPGLQSLIGDIDNAMR
                     TFLNYYTVWKQFGGLPEFYNIPQGYTVEKREGYPLRPELIESAMYLYRATGDPTLLEL
                     GRDAVESIEKISKVECGFATIKDLRDHKLDNRMESFFLAETVKYLYLLFDPTNFIHNN
                     GSTFDAVITPYGECILGAGGYIFNTEAHPIDPAALHCCQRLKEEQWEVEDLMREFYSL
                     KRSRSKFQKNTVSSGPWEPPARPGTLFSPENHDQARERKPAKQKVPLLSCPSQPFTSK
                     LALLGQVFLDSS"
     exon            186..296
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            297..336
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            337..442
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            443..568
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            569..780
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            781..922
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1047
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1192
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1314
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1884
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1861..1866
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /note="hexamer: AATAAA"
     polyA_site      1884
                     /gene="EDEM2"
                     /gene_synonym="bA4204.1; C20orf31; C20orf49"
                     /note="major polyA site"
ORIGIN      
        1 gaacccgcag cagctcccag gatgaactgg ttgcagtggc tgctgctgct gcgggggcgc
       61 tgagaggaca cgagctctat gcctttccgg ctgctcatcc cgctcggcct cctgtgcgcg
      121 ctgctgcctc agcaccatgg tgcgccaggt cccgacggct ccgcgccaga tcccgcccac
      181 tacagggagc gagtcaaggc catgttctac cacgcctacg acagctacct ggagaatgcc
      241 tttcccttcg atgagctgcg acctctcacc tgtgacgggc acgacacctg gggcagtttt
      301 tctctgactc taattgatgc actggacacc ttgctgattt tggggaatgt ctcagaattc
      361 caaagagtgg ttgaagtgct ccaggacagc gtggactttg atattgatgt gaacgcctct
      421 gtgtttgaaa caaacattcg agtggtagga ggactcctgt ctgctcatct gctctccaag
      481 aaggctgggg tggaagtaga ggctggatgg ccctgttccg ggcctctcct gagaatggct
      541 gaggaggcgg cccgaaaact cctcccagcc tttcagaccc ccactggcat gccatatgga
      601 acagtgaact tacttcatgg cgtgaaccca ggagagaccc ctgtcacctg tacggcaggg
      661 attgggacct tcattgttga atttgccacc ctgagcagcc tcactggtga cccggtgttc
      721 gaagatgtgg ccagagtggc tttgatgcgc ctctgggaga gccggtcaga tatcgggctg
      781 gtcggcaacc acattgatgt gctcactggc aagtgggtgg cccaggacgc aggcatcggg
      841 gctggcgtgg actcctactt tgagtacttg gtgaaaggag ccatcctgct tcaggataag
      901 aagctcatgg ccatgttcct agagtataac aaagccatcc ggaactacac ccgcttcgat
      961 gactggtacc tgtgggttca gatgtacaag gggactgtgt ccatgccagt cttccagtcc
     1021 ttggaggcct actggcctgg tcttcagagc ctcattggag acattgacaa tgccatgagg
     1081 accttcctca actactacac tgtatggaag cagtttgggg ggctcccgga attctacaac
     1141 attcctcagg gatacacagt ggagaagcga gagggctacc cacttcggcc agaacttatt
     1201 gaaagcgcaa tgtacctcta ccgtgccacg ggggatccca ccctcctaga actcggaaga
     1261 gatgctgtgg aatccattga aaaaatcagc aaggtggagt gcggatttgc aacaatcaaa
     1321 gatctgcgag accacaagct ggacaaccgc atggagtcgt tcttcctggc cgagactgtg
     1381 aaatacctct acctcctgtt tgacccaacc aacttcatcc acaacaatgg gtccaccttc
     1441 gacgcggtga tcacccccta tggggagtgc atcctggggg ctggggggta catcttcaac
     1501 acagaagctc accccatcga ccctgccgcc ctgcactgct gccagaggct gaaggaagag
     1561 cagtgggagg tggaggactt gatgagggaa ttctactctc tcaaacggag caggtcgaaa
     1621 tttcagaaaa acactgttag ttcggggcca tgggaacctc cagcaaggcc aggaacactc
     1681 ttctcaccag aaaaccatga ccaggcaagg gagaggaagc ctgccaaaca gaaggtccca
     1741 cttctcagct gccccagtca gcccttcacc tccaagttgg cattactggg acaggttttc
     1801 ctagactcct cataaccact ggataatttt tttattttta tttttttgag gctaaactat
     1861 aataaattgc ttttggctat cata
//
