LOCUS       NM_014603               3536 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cerebellar degeneration related protein 2 like
            (CDR2L), mRNA.
ACCESSION   NM_014603
VERSION     NM_014603.3
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 3536)
  AUTHORS   Erikstad,K.I., Herdlevaer,I., Peter,E., Haugen,M., Totland,C. and
            Vedeler,C.
  TITLE     A cerebellar degeneration-related protein 2-like cell-based assay
            for anti-Yo detection in patients with paraneoplastic cerebellar
            degeneration
  JOURNAL   Eur J Neurol 30 (6), 1727-1733 (2023)
   PUBMED   36912432
  REMARK    GeneRIF: A cerebellar degeneration-related protein 2-like
            cell-based assay for anti-Yo detection in patients with
            paraneoplastic cerebellar degeneration.
REFERENCE   2  (bases 1 to 3536)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3536)
  AUTHORS   Herdlevaer,I., Haugen,M., Mazengia,K., Totland,C. and Vedeler,C.
  TITLE     Paraneoplastic Cerebellar Degeneration: The Importance of Including
            CDR2L as a Diagnostic Marker
  JOURNAL   Neurol Neuroimmunol Neuroinflamm 8 (2), e963 (2021)
   PUBMED   33531379
  REMARK    GeneRIF: Paraneoplastic Cerebellar Degeneration: The Importance of
            Including CDR2L as a Diagnostic Marker.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3536)
  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   5  (bases 1 to 3536)
  AUTHORS   Krakenes,T., Herdlevaer,I., Raspotnig,M., Haugen,M., Schubert,M.
            and Vedeler,C.A.
  TITLE     CDR2L Is the Major Yo Antibody Target in Paraneoplastic Cerebellar
            Degeneration
  JOURNAL   Ann Neurol 86 (2), 316-321 (2019)
   PUBMED   31148214
REFERENCE   6  (bases 1 to 3536)
  AUTHORS   Small,M., Treilleux,I., Couillault,C., Pissaloux,D., Picard,G.,
            Paindavoine,S., Attignon,V., Wang,Q., Rogemond,V., Lay,S.,
            Ray-Coquard,I., Pfisterer,J., Joly,F., Du Bois,A., Psimaras,D.,
            Bendriss-Vermare,N., Caux,C., Dubois,B., Honnorat,J. and
            Desestret,V.
  TITLE     Genetic alterations and tumor immune attack in Yo paraneoplastic
            cerebellar degeneration
  JOURNAL   Acta Neuropathol 135 (4), 569-579 (2018)
   PUBMED   29299667
  REMARK    GeneRIF: Paraneoplastic cerebellar degenerations with anti-Yo
            antibodies (Yo-PCD) tumors differed from the 116 control tumors by
            more abundant T and B cells infiltration occasionally organized in
            tertiary lymphoid structures harboring CDR2L protein deposits. 65%
            of Yo-PCD tumors cohort presented at least one somatic mutation in
            CDR2 and CDR2L with a predominance of missense mutations.
REFERENCE   7  (bases 1 to 3536)
  AUTHORS   Raspotnig,M., Haugen,M., Thorsteinsdottir,M., Stefansson,I.,
            Salvesen,H.B., Storstein,A. and Vedeler,C.A.
  TITLE     Cerebellar degeneration-related proteins 2 and 2-like are present
            in ovarian cancer in patients with and without Yo antibodies
  JOURNAL   Cancer Immunol Immunother 66 (11), 1463-1471 (2017)
   PUBMED   28710511
  REMARK    GeneRIF: Both cerebellar degeneration related protein 2 (CDR2) and
            cerebellar degeneration-related antigen CDR2L (CDR2L) are more
            widely expressed than previously thought, both in normal and
            cancerous tissues.
REFERENCE   8  (bases 1 to 3536)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   9  (bases 1 to 3536)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3536)
  AUTHORS   Eichler,T.W., Totland,C., Haugen,M., Qvale,T.H., Mazengia,K.,
            Storstein,A., Haukanes,B.I. and Vedeler,C.A.
  TITLE     CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar
            Degeneration
  JOURNAL   PLoS One 8 (6), e66002 (2013)
   PUBMED   23823982
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC047534.1, AC087651.19, AW239343.1 and BC013105.2.
            
            On Nov 22, 2018 this sequence version replaced NM_014603.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC047534.1, L02867.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337231.5/ ENSP00000336587.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-161               BC047534.1         1-161
            162-162             AC087651.19        134782-134782
            163-2177            BC047534.1         163-2177
            2178-2400           AW239343.1         296-518
            2401-3536           BC013105.2         940-2075
FEATURES             Location/Qualifiers
     source          1..3536
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..3536
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /note="cerebellar degeneration related protein 2 like"
                     /db_xref="GeneID:30850"
                     /db_xref="HGNC:HGNC:29999"
     exon            1..491
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /inference="alignment:Splign:2.1.0"
     CDS             413..1810
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /note="paraneoplastic antigen; paraneoplastic 62 kDa
                     antigen"
                     /codon_start=1
                     /product="cerebellar degeneration-related protein 2-like"
                     /protein_id="NP_055418.2"
                     /db_xref="CCDS:CCDS11710.2"
                     /db_xref="GeneID:30850"
                     /db_xref="HGNC:HGNC:29999"
                     /translation="MRRAAGMEDFSAEEEESWYDQQDLEQDLHLAAELGKTLLERNKE
                     LEGSLQQMYSTNEEQVQEIEYLTKQLDTLRHVNEQHAKVYEQLDLTARDLELTNHRLV
                     LESKAAQQKIHGLTETIERLQAQVEELQAQVEQLRGLEQLRVLREKRERRRTIHTFPC
                     LKELCTSPRCKDAFRLHSSSLELGPRPLEQENERLQTLVGALRSQVSQERQRKERAER
                     EYTAVLQEYSELERQLCEMEACRLRVQELEAELLELQQMKQAKTYLLGPDDHLAEALL
                     APLTQAPEADDPQPGRGDDLGAQDGVSSPAASPGHVVRKSCSDTALNAIVAKDPASRH
                     AGNLTLHANSVRKRGMSILREVDEQYHALLEKYEELLSKCRQHGAGVRHAGVQTSRPI
                     SRDSSWRDLRGGEEGQGEVKAGEKSLSQHVEAVDKRLEQSQPEYKALFKEIFSRIQKT
                     KADINATKVKTHSSK"
     exon            492..604
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /inference="alignment:Splign:2.1.0"
     exon            605..753
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /inference="alignment:Splign:2.1.0"
     exon            754..918
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /inference="alignment:Splign:2.1.0"
     exon            919..3536
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3503..3508
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /note="hexamer: AATAAA"
     polyA_site      3536
                     /gene="CDR2L"
                     /gene_synonym="HUMPPA"
                     /note="major polyA site"
ORIGIN      
        1 aagatgcagc ggcggctccg gttgtcgccg ggcgggccag gagcagcgcg gacccgagcc
       61 gggcaggggg cgcccgccac ggcacccgcg cgctcctagc gccccagacc cgcctgcggg
      121 cccggatcct ccttgccact gtcccacccg ccgtccctgc cactccaccc tttgtgtcgc
      181 cgcagcccgg tgcccccggc tctgcgggac cccggccggg ccggaccctg gcaaagcgcc
      241 aggccccgcg tgggctcccg gcgagcggtt gatggcgagg gggcgcggcg cgggctctgt
      301 agcccgagtt cccgacgctg gaggcccggc ccgcctcagc cgcattgtcc cgggccgcgc
      361 gcaccggccc tgagctgcgc cgccgcagca cccgcccgcc gcccgcgggg ccatgcggag
      421 agccgccggg atggaggact tctccgcgga ggaagaggag tcctggtacg accagcagga
      481 cctggagcag gacttgcacc tagctgcgga gctggggaag actctgctgg agaggaacaa
      541 ggagctggag gggtccctgc agcagatgta ctccaccaat gaggaacagg tgcaggagat
      601 cgagtaccta accaagcagc tggacacgct gcggcacgtg aacgagcagc acgccaaagt
      661 ctatgagcag ctggacctga cagcccggga cctggagctg accaaccaca ggctggtgct
      721 ggagagtaag gctgcccagc agaagatcca tgggctgacg gagaccattg agcgcctcca
      781 ggctcaggtg gaggagctgc aggcccaggt ggagcaactg agaggcctgg aacagctgcg
      841 agtgctccgg gagaagcggg aacgcaggcg taccatccac accttcccct gcctcaagga
      901 gctgtgcacc agcccccggt gcaaggatgc tttccgccta cacagttcct ccctggagct
      961 gggcccgcgg cccctggagc aggagaacga gcggctgcag accctggtgg gggcgctgcg
     1021 ctcccaggtg agccaggagc ggcagcgcaa ggagcgggcg gagcgcgagt acaccgcggt
     1081 gctgcaggag tactcggagc tggagcgcca gctgtgcgag atggaggcct gtcgcctgcg
     1141 tgtgcaggag ctggaggccg agctgctgga gctgcagcag atgaagcagg ccaagaccta
     1201 cctactgggt ccggacgacc acctggccga ggccctgctc gcacccctca cgcaggcccc
     1261 tgaggccgac gatccccagc ccggccgcgg ggacgacttg ggcgcccagg acggggtctc
     1321 ctcaccggca gcctctccag gccacgtggt gcgcaagagc tgcagcgaca ctgcgctcaa
     1381 cgccatcgtg gccaaagacc cagccagccg gcacgcgggc aacctcacac tgcacgccaa
     1441 cagcgtgcgc aagcggggca tgtccatcct gcgggaggtg gacgagcagt accacgcgct
     1501 gctggagaag tacgaggagc tgctgagcaa gtgccggcag cacggggccg gagtgcggca
     1561 cgccggcgtg cagacctcgc gccccatctc ccgggacagc tcgtggaggg acctgcgcgg
     1621 gggtgaggag ggccagggtg aggtcaaggc aggagagaag agcctgagcc agcacgtgga
     1681 ggccgtggac aagcggctgg aacagagcca gcccgagtac aaggcgctct tcaaagagat
     1741 cttctccagg atccagaaga ccaaggctga catcaacgcc accaaagtca agacgcacag
     1801 cagcaagtga cccttctccg gcctgcagcc tcccccaggg tggaagccgt ggggtccctc
     1861 aggcctgggc ggtgcagctt ccagagagcg agcgcccttt agcggcctgc caccacagca
     1921 cgcggcctcc tgatccggaa gcacgcagca tgttccctgc tgagcggagg cagcccacct
     1981 gtcctgcctc ccaggagccc ttggccacct cgcgccagcc caaaggcgca gctctgagtt
     2041 caaagccaaa tgtccccact accccaggga tcccccagct cccccagccc ctggcttcct
     2101 gaccctgcgc ctcaccctca gactggtgac caggcttctg aaagccattc tggatcagtt
     2161 ggcttttttt ttttttttgg ttaagtttgt tttttctaag agatttgcaa tgcaaggtct
     2221 ccttgacccc ttgccacaac tggaaacact tgaaagggga ccccagggcc agctgtttca
     2281 ggggtttcct ggaccaccca ctgcttctcc ccaaccctga tgcgctgaca ttcccttagc
     2341 accagctgtc ccacctccag ggtcctgacc aggtcagaga tgtcccctgc catgcagagc
     2401 aggaagcctc agctgggcct ggagtgtccc tgctccagcc ctgccaggga caggtttctc
     2461 cctggatact cttggcccac cgcagatctg tagccagtca gaggaggagg agaaggagcc
     2521 cctcagcaga gtggtgcagt ttcgctcaga gcttgtctcc ttggcttcca accccagaaa
     2581 tgcctgctgg gccttaagct ttccaggggc cggggcagtg gggagccccc atcccttcac
     2641 accgccacca actaaccaag cttggcctct gactcccgtc tctgtgcttg cccccatctc
     2701 agggaccatg atgtctcagt cactccacgc tccccacagg ccaaccctgg cacaggtcat
     2761 gtctgcagcc cccagaatgt tctggacatg caccaccagc cggtggtccc aatgtccacc
     2821 cctgcctccc cttcactggg gactggggtt ttcgccccat gctgcatcgt gttgtattgg
     2881 gatggggctg aggaacatgc tccctccctc cctcccataa aatgcctgct cttcacctcc
     2941 cacctttgtg gggggctttt gaggacccag ctgcgtcagg agttttgctt caagatgtca
     3001 gaaagtcaag ttcagctaag agacacccag gtccccagct tgccctgagc agcccttcag
     3061 ggcttctggt tccttctgcc gcccttcctg agaccttaga aaccagaaga gccatacagt
     3121 cagtggaagg cgggggggcc ctggcctctg caccgggatc ccagtgggaa ccttcatgcc
     3181 ttatttattt ctaatgggta aaggggtttt cttaccaagc atccctgacc tcctggagac
     3241 accacctgct ttccgggcgg cactgtgatg ggagctggtg gcgactgagt ccttctgtac
     3301 gtgcaactgg gaaacttttg tcctttgagg ctaggcagct ccctgccctc cgtgtgtgtc
     3361 tgttatctgg gggagaggag tgtggaaggg ttgggggaag agctccagcc tgtctgctcc
     3421 ccagctctgt agtggcagac cagcgtcacc tttgaagtat acgtgagaga aatatattta
     3481 caaatgcttt attctcttct ttaataaaaa atgcaccagt attctaaaag caaaaa
//
