LOCUS       NM_001340               2149 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cylicin 2 (CYLC2), mRNA.
ACCESSION   NM_001340
VERSION     NM_001340.5
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 2149)
  AUTHORS   Schneider,S., Kovacevic,A., Mayer,M., Dicke,A.K., Arevalo,L.,
            Koser,S.A., Hansen,J.N., Young,S., Brenker,C., Kliesch,S.,
            Wachten,D., Kirfel,G., Strunker,T., Tuttelmann,F. and Schorle,H.
  TITLE     Cylicins are a structural component of the sperm calyx being
            indispensable for male fertility in mice and human
  JOURNAL   Elife 12, 86100 (2023)
   PUBMED   38013430
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2149)
  AUTHORS   Yu,D., Mathews,C.A., Scharf,J.M., Neale,B.M., Davis,L.K.,
            Gamazon,E.R., Derks,E.M., Evans,P., Edlund,C.K., Crane,J.,
            Fagerness,J.A., Osiecki,L., Gallagher,P., Gerber,G., Haddad,S.,
            Illmann,C., McGrath,L.M., Mayerfeld,C., Arepalli,S., Barlassina,C.,
            Barr,C.L., Bellodi,L., Benarroch,F., Berrio,G.B., Bienvenu,O.J.,
            Black,D.W., Bloch,M.H., Brentani,H., Bruun,R.D., Budman,C.L.,
            Camarena,B., Campbell,D.D., Cappi,C., Silgado,J.C., Cavallini,M.C.,
            Chavira,D.A., Chouinard,S., Cook,E.H., Cookson,M.R., Coric,V.,
            Cullen,B., Cusi,D., Delorme,R., Denys,D., Dion,Y., Eapen,V.,
            Egberts,K., Falkai,P., Fernandez,T., Fournier,E., Garrido,H.,
            Geller,D., Gilbert,D.L., Girard,S.L., Grabe,H.J., Grados,M.A.,
            Greenberg,B.D., Gross-Tsur,V., Grunblatt,E., Hardy,J., Heiman,G.A.,
            Hemmings,S.M., Herrera,L.D., Hezel,D.M., Hoekstra,P.J.,
            Jankovic,J., Kennedy,J.L., King,R.A., Konkashbaev,A.I.,
            Kremeyer,B., Kurlan,R., Lanzagorta,N., Leboyer,M., Leckman,J.F.,
            Lennertz,L., Liu,C., Lochner,C., Lowe,T.L., Lupoli,S.,
            Macciardi,F., Maier,W., Manunta,P., Marconi,M., McCracken,J.T.,
            Mesa Restrepo,S.C., Moessner,R., Moorjani,P., Morgan,J., Muller,H.,
            Murphy,D.L., Naarden,A.L., Nurmi,E., Ochoa,W.C., Ophoff,R.A.,
            Pakstis,A.J., Pato,M.T., Pato,C.N., Piacentini,J., Pittenger,C.,
            Pollak,Y., Rauch,S.L., Renner,T., Reus,V.I., Richter,M.A.,
            Riddle,M.A., Robertson,M.M., Romero,R., Rosario,M.C., Rosenberg,D.,
            Ruhrmann,S., Sabatti,C., Salvi,E., Sampaio,A.S., Samuels,J.,
            Sandor,P., Service,S.K., Sheppard,B., Singer,H.S., Smit,J.H.,
            Stein,D.J., Strengman,E., Tischfield,J.A., Turiel,M., Valencia
            Duarte,A.V., Vallada,H., Veenstra-VanderWeele,J., Walitza,S.,
            Wang,Y., Weale,M., Weiss,R., Wendland,J.R., Westenberg,H.G.,
            Shugart,Y.Y., Hounie,A.G., Miguel,E.C., Nicolini,H., Wagner,M.,
            Ruiz-Linares,A., Cath,D.C., McMahon,W., Posthuma,D., Oostra,B.A.,
            Nestadt,G., Rouleau,G.A., Purcell,S., Jenike,M.A., Heutink,P.,
            Hanna,G.L., Conti,D.V., Arnold,P.D., Freimer,N.B., Stewart,S.E.,
            Knowles,J.A., Cox,N.J. and Pauls,D.L.
  TITLE     Cross-disorder genome-wide analyses suggest a complex genetic
            relationship between Tourette's syndrome and OCD
  JOURNAL   Am J Psychiatry 172 (1), 82-93 (2015)
   PUBMED   25158072
REFERENCE   3  (bases 1 to 2149)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 2149)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   5  (bases 1 to 2149)
  AUTHORS   Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y.,
            Honda,M. and Tokunaga,K.
  TITLE     An approach based on a genome-wide association study reveals
            candidate loci for narcolepsy
  JOURNAL   Hum Genet 128 (4), 433-441 (2010)
   PUBMED   20677014
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2149)
  AUTHORS   Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
            Marazita,M.L.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet Med 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2149)
  AUTHORS   Xie,X., Schmits,R., Renner,C., Preuss,D., Kubuschok,B. and
            Pfreundschuh,M.
  TITLE     Systematic search and molecular characterization of the antigenic
            targets of myeloma immunoglobulins: a monoclonal IgA from a female
            patient targeting sperm-specific cylicin II
  JOURNAL   Cancer Immun 1, 11 (2001)
   PUBMED   12747772
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2149)
  AUTHORS   Hess,H., Heid,H., Zimbelmann,R. and Franke,W.W.
  TITLE     The protein complexity of the cytoskeleton of bovine and human
            sperm heads: the identification and characterization of cylicin II
  JOURNAL   Exp Cell Res 218 (1), 174-182 (1995)
   PUBMED   7737358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC058038.1, Z46788.1 and
            AL449304.19.
            
            On Nov 22, 2018 this sequence version replaced NM_001340.4.
            
            Summary: Cylicin II (CYCL2) is specifically expressed in testis and
            is part of the cytoskeletal calyx of mammalian sperm heads.
            Cylicin II may play a role in the morphogenesis of the sperm head.
            [provided by RefSeq, Jul 2008].
            
            CCDS Note: This CCDS ID is based on a transcript that is a
            candidate for nonsense-mediated decay (NMD); however, the protein
            is supported by experimental evidence (PMID 7737358, 12747772) and
            by protein homology.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Z46788.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374798.8/ ENSP00000420256.1
            NMD candidate          :: translation inferred from conservation
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-48                BC058038.1         27-74
            49-1485             Z46788.1           4-1440
            1486-1489           AL449304.19        15467-15470
            1490-1657           Z46788.1           1441-1608
            1658-1658           AL449304.19        15639-15639
            1659-1667           Z46788.1           1610-1618
            1668-2149           Z46788.1           1620-2101
FEATURES             Location/Qualifiers
     source          1..2149
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..2149
                     /gene="CYLC2"
                     /note="cylicin 2"
                     /db_xref="GeneID:1539"
                     /db_xref="HGNC:HGNC:2583"
                     /db_xref="MIM:604035"
     exon            1..65
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1095
                     /gene="CYLC2"
                     /note="cylicin II; multiple-band polypeptide II; cylicin,
                     basic protein of sperm head cytoskeleton 2"
                     /codon_start=1
                     /product="cylicin-2"
                     /protein_id="NP_001331.1"
                     /db_xref="CCDS:CCDS35085.1"
                     /db_xref="GeneID:1539"
                     /db_xref="HGNC:HGNC:2583"
                     /db_xref="MIM:604035"
                     /translation="MSLPRFQRVNFGPYDNYIPVSELSKKSWNQQHFALLFPKPQRPG
                     TKRRSKPSQIRDNTVSIIDEEQLRGDRRQPLWMYRSLMRISERPSVYLAARRQPLKPT
                     RTVEVDSKAAEIGKKGEDKTTQKDTTDSESELKQGKKDSKKGKDIEKGKEEKLDAKKD
                     SKKGKKDAEKGKDSATESEDEKGGAKKDNKKDKKDSNKGKDSATESEGEKGGTEKDSK
                     KGKKDSKKGKDSAIELQAVKADEKKDEDGKKDANKGDESKDAKKDAKEIKKGKKDKKK
                     PSSTDSDSKDDVKKESKKDATKDAKKVAKKDTEKESADSKKDAKKNAKKDAKKDAKKN
                     AKKDEKKDAKKKGK"
     exon            66..106
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            107..228
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            229..385
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            386..1795
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..1911
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1912..1985
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1986..2149
                     /gene="CYLC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2127..2132
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYLC2"
                     /note="hexamer: ATTAAA"
     polyA_site      2149
                     /gene="CYLC2"
                     /note="major polyA site"
ORIGIN      
        1 agtttgaact tacaatactt aagtcctggc aagtcataag tggggaaaat gtctctccca
       61 agattccaaa gagtaaactt tgggccatat gataattaca ttccagtcag tgaattaagc
      121 aaaaaatcat ggaatcagca acactttgcc ctgttatttc ccaaaccaca acggccagga
      181 accaaaagga gatcaaaacc ttctcaaata cgggacaaca cggtttctat aattgatgaa
      241 gaacaattaa gaggagatcg tagacaacca ttatggatgt accgttcttt aatgagaatt
      301 tctgagagac catctgttta tttagctgcc aggaggcagc ctctcaaacc aactcgtact
      361 gtcgaggtgg attctaaagc agcagaaatt ggtaagaaag gtgaagacaa gacaacacag
      421 aaggacacaa cagattcgga atcagaatta aaacaaggaa aaaaagattc aaagaaaggc
      481 aaggatatag agaaaggaaa agaagaaaag ctagatgcaa agaaagatag caaaaaaggt
      541 aaaaaggatg cagagaaggg caaagactca gcaacagaat ctgaagatga aaaaggaggt
      601 gcaaagaaag ataacaaaaa agataaaaag gattcaaaca aaggcaaaga ctcggcaaca
      661 gaatctgaag gtgaaaaagg aggtacagag aaagatagca aaaaaggtaa aaaggattca
      721 aagaagggca aggattcagc catagaatta caagctgtaa aagcagatga aaagaaggat
      781 gaggatggaa aaaaagatgc aaacaaaggt gatgaatcga aggatgccaa gaaagatgca
      841 aaggagatta aaaaaggtaa gaaagataag aagaagccca gtagtacaga cagtgactca
      901 aaggatgatg tcaagaaaga gtctaagaag gacgccacga aagatgccaa gaaagttgcc
      961 aagaaagata ctgagaaaga atctgctgat tcaaagaagg atgcaaagaa aaatgctaag
     1021 aaggatgcaa agaaggatgc aaagaagaat gcaaagaagg atgaaaagaa ggatgcaaag
     1081 aagaagggca agtaggcctt ggataagaat ttgaaccgaa agaataattc aaaagcatat
     1141 ttgatgaaac aatagtggta gtctgcagct gaatttgtga gaaaacaaga ggcctcaaag
     1201 aattaaataa tttttaaaag gtggtaaaga aggatacaaa ggagaactca gcagagattt
     1261 ataaaaatat ataagaaaga tgttaagaaa aattaagggg ggatccattg aaagacttga
     1321 agaatacata tacttatatt cggggatatg aaggattcaa tgaatgatct ctagaaagat
     1381 ttaaagaaga atattcagat aaggatgttg aagataatga cactaaatct atggacacac
     1441 acacacacac acacacacac acacacacac acacacacac acacacacag tttaatgaag
     1501 gcttaaagaa tccaaggaga cagatgttgt atctatagat ttaaaataat ctcaagctgc
     1561 atccacagat acaaaaaaat ataggagcca tgaaatgaag ttaaacacct tgtagaaagc
     1621 ctactttcaa gtaaatatag cattcctttg gcaaaaagaa aaaaaaagta aaagaaaaga
     1681 aaaaaaatgt attaccaccc gatgagccta catctttctt tctgaagttt aaacaaccac
     1741 agtcatgttt atggttgttg gatgtgccac ttccaatcca aaagaagcac acttgtctcg
     1801 ctctgttgcc ctggctggag ttcagtgaca tgatctcagg cttactacag cctccacctt
     1861 caggttcaag tgattctcct gcctcagcct ctctggtagc tgggattaca gggaaggaaa
     1921 atagctggca tttcttgctg gagaaagtta tcacaagtgg aaaggttacc ctagaaacaa
     1981 aagatgacta ccgtgaggat ggattggaca ttacaccaca ctggaaaagt gaaacatctc
     2041 attcagttgg tgatcttcct gtcatgaaag ttgcttgaca gctctaatta cgaattgaac
     2101 acattaaaca cctggtgaaa ttatcaatta aaaacatcta gtcaccata
//
