LOCUS       NM_024725               2715 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens coiled-coil domain containing 82 (CCDC82), transcript
            variant 2, mRNA.
ACCESSION   NM_024725
VERSION     NM_024725.4
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 2715)
  AUTHORS   Yahia,A., Ayed,I.B., Hamed,A.A., Mohammed,I.N., Elseed,M.A.,
            Bakhiet,A.M., Guillot-Noel,L., Abozar,F., Adil,R., Emad,S.,
            Abubaker,R., Musallam,M.A., Eltazi,I.Z.M., Omer,Z., Maaroof,O.M.,
            Soussi,A., Bouzid,A., Kmiha,S., Kamoun,H., Salih,M.A., Ahmed,A.E.,
            Elsayed,L., Masmoudi,S. and Stevanin,G.
  TITLE     Genetic diagnosis in Sudanese and Tunisian families with syndromic
            intellectual disability through exome sequencing
  JOURNAL   Ann Hum Genet 86 (4), 181-194 (2022)
   PUBMED   35118659
  REMARK    GeneRIF: Genetic diagnosis in Sudanese and Tunisian families with
            syndromic intellectual disability through exome sequencing.
REFERENCE   2  (bases 1 to 2715)
  AUTHORS   Davis,M.F., Cummings,A.C., D'Aoust,L.N., Jiang,L., Velez
            Edwards,D.R., Laux,R., Reinhart-Mercer,L., Fuzzell,D., Scott,W.K.,
            Pericak-Vance,M.A., Lee,S.L. and Haines,J.L.
  TITLE     Parkinson disease loci in the mid-western Amish
  JOURNAL   Hum Genet 132 (11), 1213-1221 (2013)
   PUBMED   23793441
REFERENCE   3  (bases 1 to 2715)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA801410.1, AF245436.1, BM678039.1 and BU742709.1.
            
            On Nov 22, 2018 this sequence version replaced NM_024725.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056790.1, SRR1660803.178426.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000646818.2/ ENSP00000496393.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DA801410.1         8-22
            16-2215             AF245436.1         11-2210
            2216-2702           BM678039.1         30-516              c
            2703-2715           BU742709.1         25-37               c
FEATURES             Location/Qualifiers
     source          1..2715
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     gene            1..2715
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /note="coiled-coil domain containing 82"
                     /db_xref="GeneID:79780"
                     /db_xref="HGNC:HGNC:26282"
                     /db_xref="MIM:619870"
     exon            1..69
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            70..153
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            154..193
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            194..993
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     CDS             208..1842
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /note="isoform a is encoded by transcript variant 2;
                     coiled-coil domain-containing protein 82"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 82 isoform
                     a"
                     /protein_id="NP_079001.2"
                     /db_xref="CCDS:CCDS8307.1"
                     /db_xref="GeneID:79780"
                     /db_xref="HGNC:HGNC:26282"
                     /db_xref="MIM:619870"
                     /translation="MIHVRRHETRRNSKSHVPEQKSRVDWRRTKRSSISQLLDSDEEL
                     DSEEFDSDEELDSDESFENDEELDSNKGPDCNKTPGSERELNLSKIQSEGNDSKCLIN
                     SGNGSTYEEETNKIKHRNIDLQDQEKHLSQEDNDLNKQTGQIIEDDQEKHLSQEDNDL
                     NKQTGQIIEDDLEEEDIKRGKRKRLSSVMCDSDESDDSDILVRKVGVKRPRRVVEDEG
                     SSVEMEQKTPEKTLAAQKREKLQKLKELSKQRSRQRRSSGRDFEDSEKESCPSSDEVD
                     EEEEEDNYESDEDGDDYIIDDFVVQDEEGDEENKNQQGEKLTTSQLKLVKQNSLYSFS
                     DHYTHFERVVKALLINALDESFLGTLYDGTRQKSYAKDMLTSLHYLDNRFVQPRLESL
                     VSRSRWKEQYKERVENYSNVSIHLKNPENCSCQACGLHRYCKYSVHLSGELYNTRTMQ
                     IDNFMSHDKQVFTVGRICASRTRIYHKLKHFKFKLYQECCTIAMTEEVEDEQVKETVE
                     RIFRRSKENGWIKEKYGQLEEYLNFADYFQEEKFEL"
     exon            994..1198
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1291
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1416
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1587
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            1588..1773
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     exon            1774..2715
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2694..2699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /note="hexamer: AGTAAA"
     polyA_site      2715
                     /gene="CCDC82"
                     /gene_synonym="HSPC048"
                     /note="major polyA site"
ORIGIN      
        1 atcgcttgtc ctgagctggt tgccggggca ggggcggagg cggaggcaga ggtggaggcg
       61 ctttgaaagc cgtcattgtg tggcactgga cggggaatca agagacccgg tttctaatcc
      121 ctgctctgtc actaacaagc tgcgtgatct tcggaaaaaa gtaatcctct tggaaagctg
      181 gaaacatagt ccgaagctta agtgaaaatg atacatgtta gaagacatga aacaaggaga
      241 aattctaaga gtcacgtgcc tgagcagaaa tctcgagttg attggaggcg aactaaaaga
      301 agtagtatct cacaattact tgatagtgat gaagagcttg atagtgaaga atttgatagt
      361 gatgaagagc ttgatagtga tgaaagtttt gaaaatgatg aagagcttga tagtaacaag
      421 ggacctgatt gtaataaaac accaggaagt gaaagagagc tcaacttaag taaaattcaa
      481 agtgaaggaa atgacagtaa gtgtctcatt aactctggca acggttcaac atatgaagaa
      541 gaaacgaaca aaatcaaaca taggaatatt gacttacaag atcaggaaaa acatttaagt
      601 caagaggata atgatctcaa caaacaaact ggacaaataa tagaggatga tcaggaaaaa
      661 catttaagtc aagaggataa tgatctcaac aaacaaactg gacaaataat agaggatgat
      721 ttagaagaag aagacatcaa gcgaggaaaa agaaaaaggc tatcctctgt gatgtgtgac
      781 agtgatgaga gtgatgacag cgatatccta gttagaaaag taggtgttaa acgtccccgt
      841 agagtggttg aagatgaagg ttcttcagtg gaaatggagc aaaagactcc tgaaaaaaca
      901 ttagctgcac aaaagcgaga aaaacttcag aagctcaaag aactctcaaa acaaagatct
      961 cgtcagagac gcagtagtgg tagagatttt gaggactctg aaaaggaatc ttgcccaagc
     1021 agtgatgaag ttgatgagga ggaagaagag gataattatg aatctgatga agatggagat
     1081 gattatatta tcgatgactt tgtagtgcaa gatgaggagg gtgatgaaga gaataaaaac
     1141 caacaaggag aaaaattgac tacatcacaa ctgaaattag taaaacagaa ttctctttat
     1201 tcttttagtg accactatac tcattttgaa agagttgtga aggctcttct gatcaacgct
     1261 ttagatgaat cttttctggg aacattatat gatggcacaa ggcaaaaatc atatgcaaaa
     1321 gatatgctaa catctcttca ttatttggat aaccgctttg ttcagcctcg tctagagagc
     1381 ttggtatcta gaagtcgttg gaaagagcaa tataaggagc gagtagaaaa ttattctaat
     1441 gtaagtattc atttgaagaa tcctgaaaac tgttcctgcc aggcttgtgg actgcatcgc
     1501 tactgtaaat attcagtgca tttatcagga gagttgtata acaccaggac catgcaaata
     1561 gataatttca tgtcacatga taaacaggtg ttcactgttg gcagaatttg tgccagccgt
     1621 accagaattt atcataaact gaaacatttt aaattcaaac tataccagga atgttgcacc
     1681 attgcaatga cagaagaagt tgaagatgaa caagttaaag aaacagtgga aagaattttc
     1741 aggcggtcaa aagaaaatgg ctggattaag gagaaatatg gtcaacttga agaatatctc
     1801 aattttgcgg attactttca agaagagaag tttgagttgt aacacatttc catcagagaa
     1861 gattttttaa attcctgtaa atgtgaagat catgattctt gtttttctgt atcatgtgac
     1921 atgtttgtac attttatcta tatcttcatg gcaaaatatt ttgtttaaaa catgattatc
     1981 ttaattcctg tgaagtggca ctctacactc taattaaact tttatctgat gtacataaaa
     2041 gcattatctt aatttttaag tctgtaaata tattttaaag ttatataata atggctttat
     2101 aacagatgac tgtcaagtga atgagctgtt gatatcctgt cagtttagtc aaaatatatt
     2161 gtatcttaaa aatgtattta gactaacgtc tacatgtatt tttacggaat tcctgtccag
     2221 atctgtttat tcttttacag tattaaatga ttttcactaa tatatttttt actgctatca
     2281 tctaaatcag tgggccatgg aagaaacctc atatatcatt cagttcaatc ccattgcttc
     2341 agaatcagat catagcatat ctattctaag tagaggaatg cttttttcct tttcttgaaa
     2401 gtttctcttt caaatagatt tcaggcctct agagtctttc aaccctcaca ttcaggaata
     2461 attttatgta aattttcatg ctttataatg ttcttacttt tttctattca attttgtcta
     2521 tatattgatg attaagatgt attttattta tttttatcca tagctttttc catataagta
     2581 tgtatcttag ggtcagaact gctgaaagag acaaactcag ccaaaaacac ttggaaagca
     2641 tattttggta tctgcattgc tttgcatatc taaattttcc cataaagtaa taaagtaaaa
     2701 tggttgcaga gtgaa
//
