LOCUS       NM_006854               2786 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens KDEL endoplasmic reticulum protein retention receptor
            2 (KDELR2), transcript variant 1, mRNA.
ACCESSION   NM_006854
VERSION     NM_006854.4
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 2786)
  AUTHORS   Wu,X., Du,F., Zhang,A., Zhang,G., Xu,R. and Du,X.
  TITLE     KDELR2 is necessary for chronic obstructive pulmonary disease
            airway Mucin5AC hypersecretion via an IRE1alpha/XBP-1s-dependent
            mechanism
  JOURNAL   J Cell Mol Med 28 (19), e70125 (2024)
   PUBMED   39365189
  REMARK    GeneRIF: KDELR2 is necessary for chronic obstructive pulmonary
            disease airway Mucin5AC hypersecretion via an
            IRE1alpha/XBP-1s-dependent mechanism.
REFERENCE   2  (bases 1 to 2786)
  AUTHORS   Wei,H., Ma,W., Lu,X., Liu,H., Lin,K., Wang,Y., Ye,Z., Sun,L.,
            Huang,Z., Pan,T., Zhou,Z., Cheng,E.Y., Zhang,H., Gao,P. and
            Zhong,X.
  TITLE     KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell
            cycle progression
  JOURNAL   Cancer Commun (Lond) 41 (9), 904-920 (2021)
   PUBMED   34146461
  REMARK    GeneRIF: KDELR2 promotes breast cancer proliferation via
            HDAC3-mediated cell cycle progression.
REFERENCE   3  (bases 1 to 2786)
  AUTHORS   Efthymiou,S., Herman,I., Rahman,F., Anwar,N., Maroofian,R., Yip,J.,
            Mitani,T., Calame,D.G., Hunter,J.V., Sutton,V.R., Yilmaz Gulec,E.,
            Duan,R., Fatih,J.M., Marafi,D., Pehlivan,D., Jhangiani,S.N.,
            Gibbs,R.A., Posey,J.E., Maqbool,S., Lupski,J.R. and Houlden,H.
  CONSRTM   SYNAPS Study Group
  TITLE     Two novel bi-allelic KDELR2 missense variants cause osteogenesis
            imperfecta with neurodevelopmental features
  JOURNAL   Am J Med Genet A 185 (7), 2241-2249 (2021)
   PUBMED   33964184
  REMARK    GeneRIF: Two novel bi-allelic KDELR2 missense variants cause
            osteogenesis imperfecta with neurodevelopmental features.
REFERENCE   4  (bases 1 to 2786)
  AUTHORS   van Dijk,F.S., Semler,O., Etich,J., Kohler,A.,
            Jimenez-Estrada,J.A., Bravenboer,N., Claeys,L., Riesebos,E.,
            Gegic,S., Piersma,S.R., Jimenez,C.R., Waisfisz,Q., Flores,C.L.,
            Nevado,J., Harsevoort,A.J., Janus,G.J.M., Franken,A.A.M., van der
            Sar,A.M., Meijers-Heijboer,H., Heath,K.E., Lapunzina,P.,
            Nikkels,P.G.J., Santen,G.W.E., Nuchel,J., Plomann,M., Wagener,R.,
            Rehberg,M., Hoyer-Kuhn,H., Eekhoff,E.M.W., Pals,G., Morgelin,M.,
            Newstead,S., Wilson,B.T., Ruiz-Perez,V.L., Maugeri,A., Netzer,C.,
            Zaucke,F. and Micha,D.
  TITLE     Interaction between KDELR2 and HSP47 as a Key Determinant in
            Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
  JOURNAL   Am J Hum Genet 107 (5), 989-999 (2020)
   PUBMED   33053334
  REMARK    GeneRIF: Interaction between KDELR2 and HSP47 as a Key Determinant
            in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
REFERENCE   5  (bases 1 to 2786)
  AUTHORS   Bauer,A., Santen,L., Schmitt,M.J., Shaebani,M.R. and Becker,B.
  TITLE     Cell-type-specific differences in KDEL receptor clustering in
            mammalian cells
  JOURNAL   PLoS One 15 (7), e0235864 (2020)
   PUBMED   32645101
  REMARK    GeneRIF: Cell-type-specific differences in KDEL receptor clustering
            in mammalian cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2786)
  AUTHORS   Raykhel,I., Alanen,H., Salo,K., Jurvansuu,J., Nguyen,V.D.,
            Latva-Ranta,M. and Ruddock,L.
  TITLE     A molecular specificity code for the three mammalian KDEL receptors
  JOURNAL   J Cell Biol 179 (6), 1193-1204 (2007)
   PUBMED   18086916
  REMARK    Erratum:[J Cell Biol. 2008 Feb 11;180(3):645]
REFERENCE   7  (bases 1 to 2786)
  AUTHORS   van der Vlies,D., Pap,E.H., Post,J.A., Celis,J.E. and Wirtz,K.W.
  TITLE     Endoplasmic reticulum resident proteins of normal human dermal
            fibroblasts are the major targets for oxidative stress induced by
            hydrogen peroxide
  JOURNAL   Biochem J 366 (Pt 3), 825-830 (2002)
   PUBMED   12071860
REFERENCE   8  (bases 1 to 2786)
  AUTHORS   Pelham,H.R.
  TITLE     The dynamic organisation of the secretory pathway
  JOURNAL   Cell Struct Funct 21 (5), 413-419 (1996)
   PUBMED   9118249
  REMARK    Review article
REFERENCE   9  (bases 1 to 2786)
  AUTHORS   Lewis,M.J. and Pelham,H.R.
  TITLE     Sequence of a second human KDEL receptor
  JOURNAL   J Mol Biol 226 (4), 913-916 (1992)
   PUBMED   1325562
REFERENCE   10 (bases 1 to 2786)
  AUTHORS   Hsu,V.W., Shah,N. and Klausner,R.D.
  TITLE     A brefeldin A-like phenotype is induced by the overexpression of a
            human ERD-2-like protein, ELP-1
  JOURNAL   Cell 69 (4), 625-635 (1992)
   PUBMED   1316805
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA713413.1, AL547016.3,
            AC072052.6 and AK124072.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006854.3.
            
            Summary: Retention of resident soluble proteins in the lumen of the
            endoplasmic reticulum (ER) is achieved in both yeast and animal
            cells by their continual retrieval from the cis-Golgi, or a
            pre-Golgi compartment. Sorting of these proteins is dependent on a
            C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in
            animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This
            process is mediated by a receptor that recognizes, and binds the
            tetrapeptide-containing protein, and returns it to the ER. In
            yeast, the sorting receptor encoded by a single gene, ERD2, is a
            seven-transmembrane protein. Unlike yeast, several human homologs
            of the ERD2 gene, constituting the KDEL receptor gene family, have
            been described. KDELR2 was the second member of the family to be
            identified, and it encodes a protein which is 83% identical to the
            KDELR1 gene product. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: SRR3476690.445187.1,
                                           SRR1803615.128608.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258739.9/ ENSP00000258739.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-499               DA713413.1         67-565
            500-500             AL547016.3         543-543
            501-699             AC072052.6         25614-25812         c
            700-2098            AC072052.6         21320-22718         c
            2099-2786           AK124072.1         21-708              c
FEATURES             Location/Qualifiers
     source          1..2786
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1"
     gene            1..2786
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /note="KDEL endoplasmic reticulum protein retention
                     receptor 2"
                     /db_xref="GeneID:11014"
                     /db_xref="HGNC:HGNC:6305"
                     /db_xref="MIM:609024"
     exon            1..186
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..734
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ERD-2-like protein; (Lys-Asp-Glu-Leu) endoplasmic
                     reticulum protein retention receptor 2; KDEL receptor 2;
                     ERD2-like protein 1; ER lumen protein-retaining receptor
                     2; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein
                     retention receptor 2"
                     /codon_start=1
                     /product="ER lumen protein-retaining receptor 2 isoform 1"
                     /protein_id="NP_006845.1"
                     /db_xref="CCDS:CCDS5351.1"
                     /db_xref="GeneID:11014"
                     /db_xref="HGNC:HGNC:6305"
                     /db_xref="MIM:609024"
                     /translation="MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVF
                     TTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPV
                     GGLSFLVNHDFSPLEILWTFSIYLESVAILPQLFMISKTGEAETITTHYLFFLGLYRA
                     LYLVNWIWRFYFEGFFDLIAVVAGVVQTILYCDFFYLYITKVLKGKKLSLPA"
     exon            187..287
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /inference="alignment:Splign:2.1.0"
     exon            288..446
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /inference="alignment:Splign:2.1.0"
     exon            447..699
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /inference="alignment:Splign:2.1.0"
     exon            700..2786
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1134..1139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /note="hexamer: ATTATA"
     polyA_site      1158
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
     regulatory      2764..2769
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /note="hexamer: AATAAA"
     polyA_site      2786
                     /gene="KDELR2"
                     /gene_synonym="ELP-1; ELP1; ERD2.2; OI21"
                     /note="major polyA site"
ORIGIN      
        1 gccatcttcg ccgcttcctc tcaggggccg ccgcctcctg agccgcccag ccccggggcc
       61 gccgcgctgc gccgaccgcc accgccgccg ccgccatgaa cattttccgg ctgactgggg
      121 acctgtccca cctggcggcc atcgtcatcc tgctgctgaa gatctggaag acgcgctcct
      181 gcgccggtat ttctgggaaa agccagcttc tgtttgcact ggtcttcaca actcgttacc
      241 tggatctttt tacttcattt atttcattgt ataacacatc tatgaaggtt atctaccttg
      301 cctgctccta tgccacagtg tacctgatct acctgaaatt taaggcaacc tacgatggaa
      361 atcatgatac cttccgagtg gagtttctgg tggtccctgt gggaggcctc tcatttttag
      421 ttaatcacga tttctctcct cttgagatcc tctggacctt ctccatctac ctggagtccg
      481 tggctatcct tccgcagcta tttatgatca gcaagactgg ggaggccgag accatcacca
      541 cccactacct gttcttcctg ggcctctatc gtgctttgta tcttgtcaac tggatctggc
      601 gcttctactt tgagggcttc tttgacctca ttgctgtggt ggccggcgta gtccagacca
      661 tcctatactg tgacttcttc tacttgtaca ttacaaaagt actcaaggga aagaagctca
      721 gtttgccagc ataagtgcca aagaccatca ccagcatctg tccttcaggg tgctcggaca
      781 gaattcttac cacagcaaag gcataagatg cttgatacgg aaaatcagaa acttaactct
      841 tttgttgcag atagtcatca gtggctctgt aaaaacgcag aggaaaagag ccagaaggtt
      901 tctgtttaat gcatcttgcc ttatcttttt ttattactgt gtacaaagat ttttttacac
      961 aaagaaactt aatgctgtat taataaattc agtgtgtagc ttcaattggg atagttccaa
     1021 aagtgaagat tttgtgagga ataagtgcaa attttttttt tattttaaaa aattctttga
     1081 aactcttaag tctttgtgtc tgcaatgaaa ttgtactcct tgacagttga tagattatat
     1141 attcttccat ccctcaaact tgcattccac tatatttatt ttttggcaaa agatgagctg
     1201 tatttgtttg aaatctgaga cactatgttc aattggatgt atctgttcaa atttattccc
     1261 acgtgacgtg gaagtccttc gttggatgtc acaacactac atttaaggtt ggtaaggatg
     1321 acttggaggt ccatggtttt cattaccaac attttaagat tctgaatgtc gatggagtct
     1381 cactgaagag tcaccaaagg tgcctgccct cctcccctgc tgggaagtgt cagttggaga
     1441 ctgtcccaag ggtgctgaag aatccagtgg caggggttct ggctgctttc catctgagtg
     1501 tgggatggga ggggtgttca tgatcatttg gatatagcaa tctactctga gaaatggaac
     1561 acaaggagtt acctatcact ttcacttata attccaaaag atgactacaa ccatgtccat
     1621 gctcagattc aaacagtttt ccatatcact tttgggtggt aagatgattt aattacagtt
     1681 ttttttttaa ttggcagcac cactaaccat tccttacatt cttttttgta tgtgtggttt
     1741 tctttttatt taacccgcag ccgacatcgt agtttcttgt tttgttttgt tttacagagc
     1801 tgttgcatga cttatgttac catcctaaaa aacactatat taaacatgga ataaattgtc
     1861 tttttatgaa ttaggctttt tgaacatcct gtgttgggat ttttttgttt ttcaattggc
     1921 aacaaaagct ctgtagggct gcagacattt aaagttcaca taatcatctg taagacatta
     1981 tgtattttgt ggaaatacta gaattttttt cctgattttg ccattatatg gatttgctat
     2041 tttttgatta atgcaaaagt atatgacttt gttttttatg tgatacacca taaatattaa
     2101 agtgttgaat actaacagtg ctgactacaa gaaggatgta gtattttggc tttctgcatt
     2161 acaacgtctt ctggaggaag ggagcaggat gggtttcatt tgtatctagt gtgtgtctta
     2221 acatctttct aaatcggcag tgtaactgca tagtttaact tcctgtctgt ctccctcatt
     2281 ttactcttcc ctccttgtct tatgttttgg cttttgtgta tcagagcatc tttctttgca
     2341 gcatcctagt cttgcttcag tttctgtggt ctcttttcat cctgcttgaa gattcggagt
     2401 gtggaaggag gctaggaagt ctggtgcagt aggtgagcag acctcttgct gcccagccca
     2461 gggtgggtgg ggcgcacacc tgtctttgtg catgcaaatc tgatacacct ggcgcatcct
     2521 ctggagagca caacgcatgg aaaggtctgg aagctctgtg tagccattcc ttctgcagtc
     2581 atcctaccca agtaaaagta accttggcta tgttaccacc gttttggtca cccaggagga
     2641 catcttagca agggtgcctg cgagggagtg tgggactggg cctcatcctc gccggcgttg
     2701 gaaaccaagg ccttgtatgc cacgccttat gaagcactgt ttcacagtta ctttcacttc
     2761 ccgaataaag gttaccaggt aattaa
//
