LOCUS       NM_201435               3301 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript
            variant 2, mRNA.
ACCESSION   NM_201435
VERSION     NM_201435.5
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 3301)
  AUTHORS   Oud,M.S., Okutman,O., Hendricks,L.A.J., de Vries,P.F.,
            Houston,B.J., Vissers,L.E.L.M., O'Bryan,M.K., Ramos,L.,
            Chemes,H.E., Viville,S. and Veltman,J.A.
  TITLE     Exome sequencing reveals novel causes as well as new candidate
            genes for human globozoospermia
  JOURNAL   Hum Reprod 35 (1), 240-252 (2020)
   PUBMED   31985809
REFERENCE   2  (bases 1 to 3301)
  AUTHORS   Li,Y., Li,C., Lin,S., Yang,B., Huang,W., Wu,H., Chen,Y., Yang,L.,
            Luo,M., Guo,H., Chen,J., Wang,T., Ma,Q., Gu,Y., Mou,L., Jiang,Z.,
            Xia,J. and Gui,Y.
  TITLE     A nonsense mutation in Ccdc62 gene is responsible for
            spermiogenesis defects and male infertility in repro29/repro29 mice
  JOURNAL   Biol Reprod 96 (3), 587-597 (2017)
   PUBMED   28339613
REFERENCE   3  (bases 1 to 3301)
  AUTHORS   Darweesh,S.K., Verlinden,V.J., Adams,H.H., Uitterlinden,A.G.,
            Hofman,A., Stricker,B.H., van Duijn,C.M., Koudstaal,P.J. and
            Ikram,M.A.
  TITLE     Genetic risk of Parkinson's disease in the general population
  JOURNAL   Parkinsonism Relat Disord 29, 54-59 (2016)
   PUBMED   27269966
  REMARK    GeneRIF: This study shown CCDC62 genetic variants for Parkinson's
            disease are associated with the risk of incident Parkinson's
            disease in the general population and with impairment in daily
            functioning in individuals without clinical parkinsonism.
REFERENCE   4  (bases 1 to 3301)
  AUTHORS   Lu,Y., Tan,L., Shen,N., Peng,J., Wang,C., Zhu,Y. and Wang,X.
  TITLE     Possible association of CCDC62 rs12817488 polymorphism and
            Parkinson's disease risk in Chinese population: a meta-analysis
  JOURNAL   Sci Rep 6, 23991 (2016)
   PUBMED   27035708
  REMARK    GeneRIF: there is a relationship between rs12817488 and Parkinson's
            disease risk in Chinese population [meta-analysis]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3301)
  AUTHORS   Yu,R.L., Guo,J.F., Wang,Y.Q., Liu,Z.H., Sun,Z.F., Su,L., Zhang,Y.,
            Yan,X.X. and Tang,B.S.
  TITLE     The single nucleotide polymorphism Rs12817488 is associated with
            Parkinson's disease in the Chinese population
  JOURNAL   J Clin Neurosci 22 (6), 1002-1004 (2015)
   PUBMED   25818163
  REMARK    GeneRIF: our findings support the conclusion that the rs12817488 in
            CCDC62/HIP1R polymorphism may increase the risk of Parkinson's
            disease in the Chinese Han population.
REFERENCE   6  (bases 1 to 3301)
  AUTHORS   Li,N.N., Tan,E.K., Chang,X.L., Mao,X.Y., Zhang,J.H., Zhao,D.M.,
            Liao,Q., Yu,W.J. and Peng,R.
  TITLE     Genetic association study between STK39 and CCDC62/HIP1R and
            Parkinson's disease
  JOURNAL   PLoS One 8 (11), e79211 (2013)
   PUBMED   24312176
  REMARK    GeneRIF: STK39 (rs2102808) and CCDC62/HIP1R (rs12817488) do not
            appear to influence PD risk.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3301)
  AUTHORS   Nalls,M.A., Plagnol,V., Hernandez,D.G., Sharma,M., Sheerin,U.M.,
            Saad,M., Simon-Sanchez,J., Schulte,C., Lesage,S.,
            Sveinbjornsdottir,S., Stefansson,K., Martinez,M., Hardy,J.,
            Heutink,P., Brice,A., Gasser,T., Singleton,A.B. and Wood,N.W.
  CONSRTM   International Parkinson Disease Genomics Consortium
  TITLE     Imputation of sequence variants for identification of genetic risks
            for Parkinson's disease: a meta-analysis of genome-wide association
            studies
  JOURNAL   Lancet 377 (9766), 641-649 (2011)
   PUBMED   21292315
REFERENCE   8  (bases 1 to 3301)
  AUTHORS   Domae,S., Nakamura,Y., Nakamura,Y., Uenaka,A., Wada,H., Nakata,M.,
            Oka,M., Kishimoto,K., Tsukamoto,G., Yoshihama,Y., Matsuoka,J.,
            Gochi,A., Kohno,S., Saika,T., Sasaki,A., Nakayama,E. and Ono,T.
  TITLE     Identification of CCDC62-2 as a novel cancer/testis antigen and its
            immunogenicity
  JOURNAL   Int J Cancer 124 (10), 2347-2352 (2009)
   PUBMED   19165854
  REMARK    GeneRIF: serological survey of 191 cancer patients with a range of
            different cancers by ELISA revealed antibodies to CCDC62-2 in 13
            patients, including stomach cancer
REFERENCE   9  (bases 1 to 3301)
  AUTHORS   Chen,M., Ni,J., Chang,H.C., Lin,C.Y., Muyan,M. and Yeh,S.
  TITLE     CCDC62/ERAP75 functions as a coactivator to enhance estrogen
            receptor beta-mediated transactivation and target gene expression
            in prostate cancer cells
  JOURNAL   Carcinogenesis 30 (5), 841-850 (2009)
   PUBMED   19126643
  REMARK    GeneRIF: Role of CCDC62/ERAP75 as a novel coactivator in prostate
            cancer cells that can modulate estrogen receptor beta
            transactivation and receptor function.
REFERENCE   10 (bases 1 to 3301)
  AUTHORS   Chen,M., Ni,J., Zhang,Y., Muyan,M. and Yeh,S.
  TITLE     ERAP75 functions as a coactivator to enhance estrogen receptor
            alpha transactivation in prostate stromal cells
  JOURNAL   Prostate 68 (12), 1273-1282 (2008)
   PUBMED   18563714
  REMARK    GeneRIF: ERAP75 functions as a novel coactivator that can modulate
            ER alpha function in the prostate stromal cells.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB458565.1, AK292466.1, BC060796.1, CD556476.1 and AC027290.31.
            
            On May 17, 2019 this sequence version replaced NM_201435.4.
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the supported protein.
            
            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 :: BC060796.1, AK292466.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253079.11/ ENSP00000253079.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                DB458565.1         64-92
            30-1554             AK292466.1         1-1525
            1555-2531           BC060796.1         1601-2577
            2532-2987           BC060796.1         2579-3034
            2988-3078           CD556476.1         380-470
            3079-3079           AC027290.31        102323-102323       c
            3080-3153           CD556476.1         472-545
            3154-3301           AC027290.31        102101-102248       c
FEATURES             Location/Qualifiers
     source          1..3301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..3301
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /note="coiled-coil domain containing 62"
                     /db_xref="GeneID:84660"
                     /db_xref="HGNC:HGNC:30723"
                     /db_xref="MIM:613481"
     exon            1..135
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..2154
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /note="cancer/testis antigen 109; testis-specific protein
                     TSP-NY; coiled-coil domain-containing protein 60;
                     aaa-protein"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 62"
                     /protein_id="NP_958843.2"
                     /db_xref="CCDS:CCDS9238.1"
                     /db_xref="GeneID:84660"
                     /db_xref="HGNC:HGNC:30723"
                     /db_xref="MIM:613481"
                     /translation="MNPPAAFLAGRQNIGSEVEISTIEKQRKELQLLIGELKDRDKEL
                     NDMVAVHQQQLLSWEEDRQKVLTLEERCSKLEGELHKRTEIIRSLTKKVKALESNQME
                     CQTALQKTQLQLQEMAQKATHSSLLSEDLEARNETLSNTLVELSAQVGQLQAREQALT
                     TMIKLKDKDIIEAVNHIADCSGKFKMLEHALRDAKMAETCIVKEKQDYKQKLKALKIE
                     VNKLKEDLNEKTTENNEQREEIIRLKQEKSCLHDELLFTVEREKRKDELLNIAKSKQE
                     RTNSELHNLRQIYVKQQSDLQFLNFNVENSQELIQMYDSKMEESKALDSSRDMCLSDL
                     ENNHPKVDIKREKNQKSLFKDQKFEAMLVQQNRSDKSSCDECKEKKQQIDTVFGEKSV
                     ITLSSIFTKDLVEKHNLPWSLGGKTQIEPENKITLCKIHTKSPKCHGTGVQNEGKQPS
                     ETPTLSDEKQWHDVSVYLGLTNCPSSKHPEKLDVECQDQMERSEISCCQKNEACLGES
                     GMCDSKCCHPSNFIIEAPGHMSDVEWMSIFKPSKMQRIVRLKSGCTCSESICGTQHDS
                     PASELIAIQDSHSLGSSKSALREDETESSSNKKNSPTSLLIYKDAPAFNEKASIVLPS
                     QDDFSPTSKLQRLLAESRQMVTDLELSTLLPISHENLTGSATNKSEVPEESAQKNTFV
                     SY"
     exon            136..328
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            329..495
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            496..597
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            598..769
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            770..871
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            872..960
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1076
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1805
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1950
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2100
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            2101..2194
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     exon            2195..3301
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2956..2961
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /note="hexamer: CATAAA"
     regulatory      2975..2980
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /note="hexamer: ATTAAA"
     polyA_site      2987
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /note="major polyA site"
     polyA_site      2995
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
     regulatory      3134..3139
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
                     /note="hexamer: AATAAA"
     polyA_site      3157
                     /gene="CCDC62"
                     /gene_synonym="CT109; ERAP75; SPGF67; TSP-NY"
ORIGIN      
        1 gctccgggct cgcccccgcc gctcggggca ggcgcgccga tggcgtttct gaggtgacgc
       61 cgcccacacc gggcttctcc gggggcggag gaaacaccta tgaaccctcc ggcagccttc
      121 cttgccgggc gccagaacat cgggtcagaa gttgagattt ccactatcga gaaacaacgg
      181 aaggagctgc agttgctcat tggagaatta aaagatcgag ataaagagct caatgacatg
      241 gttgcagtgc accagcaaca gcttctttca tgggaagagg atcggcagaa agtgttgaca
      301 ctggaagaac gttgcagcaa attagaaggt gaactacata aaagaactga aataatcagg
      361 tcactcacga agaaggtaaa agctcttgaa tccaatcaaa tggaatgcca aacagctctc
      421 caaaagaccc aactacagct tcaggaaatg gctcaaaagg caacgcattc ttctcttctc
      481 tctgaagacc ttgaggctag aaacgaaact ctcagcaaca cgttagtgga actttctgcc
      541 caggtaggac agctacaagc tcgagaacaa gctcttacga caatgataaa gctaaaggac
      601 aaagatatta ttgaggcagt taatcacatt gcagattgtt cgggtaaatt taaaatgcta
      661 gagcatgccc tacgtgatgc caagatggcg gagacttgta ttgtgaaaga aaagcaagat
      721 tataagcaga aattgaaggc acttaagatt gaagtcaaca aactaaaaga ggacctcaat
      781 gaaaagacga cagaaaataa tgagcaacga gaagagatca ttcgcctcaa gcaagagaaa
      841 agttgcctgc acgatgaatt gctttttact gtagagagag aaaagaggaa agatgaattg
      901 cttaatattg cgaagtcaaa gcaagaacgc acaaattcag aactgcacaa tctgagacag
      961 atttatgtaa aacaacagag tgatctgcag tttcttaatt tcaatgtgga aaattctcag
     1021 gaattaatac agatgtatga ctcaaagatg gaggaatcaa aggctctgga ctccagcaga
     1081 gacatgtgtt tatcagacct tgaaaataac cacccaaaag tcgatattaa gagggaaaaa
     1141 aatcagaagt cactgtttaa ggaccagaaa tttgaagcca tgttggttca gcaaaatagg
     1201 tcagacaaga gctcttgcga tgaatgcaaa gagaagaaac aacagatcga tactgtgttt
     1261 ggggagaaaa gtgtaattac gctgtcatcc atattcacca aagacttagt agagaaacac
     1321 aacctccctt ggtctctggg aggaaaaacc cagattgaac ccgaaaacaa aattacattg
     1381 tgcaagatcc acacaaaatc accaaaatgt catggcactg gggttcagaa cgaaggaaaa
     1441 caaccctcag aaacacccac tttatctgat gagaagcagt ggcatgatgt cagtgtttac
     1501 ctgggcctga ccaactgtcc aagttcaaaa catccagaaa agctggatgt agaatgtcaa
     1561 gatcagatgg aaaggtccga aatctcatgc tgccagaaaa atgaagcctg tctgggcgaa
     1621 agtggcatgt gtgactccaa gtgctgccac ccgagtaact tcataattga agccccaggc
     1681 cacatgtctg acgtggagtg gatgagtatt ttcaagcctt ccaaaatgca gagaattgtc
     1741 cgcctcaaat ctgggtgcac ctgttcagaa agcatctgtg gcacacaaca tgactccccg
     1801 gcaagtgagc taattgccat ccaagattcc cactctttgg gttcttcaaa atctgccttg
     1861 agagaagatg agacggagtc ctcttccaat aaaaagaact cacctacgag tttgttaatc
     1921 tacaaagatg caccagcatt caatgaaaag gcttcaattg tgttaccctc ccaggatgat
     1981 ttctcgccca cgagcaagct ccagcgtttg ctggcggaat ctcgtcagat ggtgacggac
     2041 ctggagctga gcacactgct gcccatcagc catgagaatc tcactggcag tgccacaaat
     2101 aagtcagagg tcccagaaga gtcagctcaa aaaaatacct ttgtcagtta ttgaaggaaa
     2161 caaaaggcaa cttcagtatt catcgtgatc acgaatttct catctatgtg gaaggcagaa
     2221 agcagacacc aatactgaat gaatacttaa ccgtaaaact gaaagaggat tctagttctt
     2281 cataaacggc acttaattcc agctgggagc agaactagaa agttaatttt taaacatcta
     2341 cacttcattt tcaagttaac catttttgtg ctgaagaaat attttcatgt gtaagaaagt
     2401 agaccttatt gtacatatag aaagttggaa ttatgctaag aatgaaaaag acttctctgt
     2461 aaagatacgg actacagtta aatgctagag aagctcttta aaaatgtgaa tgtcaaatag
     2521 agaaagaacc ctgcatagaa agtgctgttt taactatctg atttttaaaa aatctgtgca
     2581 tacatttaaa ttctaaacaa tagcttatca gagtcagctc aaaatatatg agaaacagta
     2641 ttctctcatg gttttagctt ttgactttgc tgtgtaaata gacataaggt gctttgatat
     2701 aaaatataaa atgtaactgg aaaatagctc gaggtccttc tgtcccaagc tgagcagagc
     2761 cccatctttc tgggtctata ttagtcccac ctactgacac aaacaaaagc ttgctggaag
     2821 atcgagtttt agacgcattt ttaaaaatct taaagactaa aacacttcca ttttaacttg
     2881 taaagtaatt taatttttta aagattatac tatatgcctc tgtgtcttct ctaaaagaat
     2941 agatcaactt cagtccataa aagatatttt taatattaaa gaaaaaatat gtttccttgg
     3001 tttcttttta ttttacagga gtaaaataag gaaggaacgt tcatcacttt aaactgaacc
     3061 tggcaagtta atttcctcag gaatggggat gtattttttt aagcattgca gatatcaaag
     3121 ttctattgtg ctgaataaat gcccctttgt taacaggtct cagtgttact tcagagatga
     3181 ttttcatgag cggggaagag ccacctcatt tagccttttt aattagggtg ctgaaaagag
     3241 aagttgggtg aggtttggtt atgttcttta tcaatgcgtg ctttctccct caggctgggc
     3301 t
//
