LOCUS       NM_015500               6473 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens C2 calcium dependent domain containing 2 (C2CD2),
            transcript variant 1, mRNA.
ACCESSION   NM_015500
VERSION     NM_015500.2
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 6473)
  AUTHORS   Johnson,B., Iuliano,M., Lam,T.T., Biederer,T. and De Camilli,P.V.
  TITLE     A complex of the lipid transport ER proteins TMEM24 and C2CD2 with
            band 4.1 at cell-cell contacts
  JOURNAL   J Cell Biol 223 (11) (2024)
   PUBMED   39158698
  REMARK    GeneRIF: A complex of the lipid transport ER proteins TMEM24 and
            C2CD2 with band 4.1 at cell-cell contacts.
REFERENCE   2  (bases 1 to 6473)
  AUTHORS   Heckerman,D., Traynor,B.J., Picca,A., Calvani,R., Marzetti,E.,
            Hernandez,D., Nalls,M., Arepali,S., Ferrucci,L. and Landi,F.
  TITLE     Genetic variants associated with physical performance and
            anthropometry in old age: a genome-wide association study in the
            ilSIRENTE cohort
  JOURNAL   Sci Rep 7 (1), 15879 (2017)
   PUBMED   29158487
  REMARK    GeneRIF: Genotyping was accomplished on Infinium Human610-QUAD
            version 1. In the ilSIRENTE population, genetic variants in ZNF295
            and C2CD2 (rs928874 and rs1788355) on chromosome 21q22.3, were
            significantly associated with the 4-meter gait speed
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 6473)
  AUTHORS   Chimusa,E.R., Zaitlen,N., Daya,M., Moller,M., van Helden,P.D.,
            Mulder,N.J., Price,A.L. and Hoal,E.G.
  TITLE     Genome-wide association study of ancestry-specific TB risk in the
            South African Coloured population
  JOURNAL   Hum Mol Genet 23 (3), 796-809 (2014)
   PUBMED   24057671
REFERENCE   4  (bases 1 to 6473)
  AUTHORS   Hu,Y.H., Warnatz,H.J., Vanhecke,D., Wagner,F., Fiebitz,A.,
            Thamm,S., Kahlem,P., Lehrach,H., Yaspo,M.L. and Janitz,M.
  TITLE     Cell array-based intracellular localization screening reveals novel
            functional features of human chromosome 21 proteins
  JOURNAL   BMC Genomics 7, 155 (2006)
   PUBMED   16780588
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6473)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of TMEM24 family genes in
            silico
  JOURNAL   Int J Oncol 25 (3), 759-764 (2004)
   PUBMED   15289880
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001619.1 and AB047784.1.
            
            On Nov 23, 2018 this sequence version replaced NM_015500.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB047784.1, SRR1803615.6411.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380486.4/ ENSP00000369853.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-128               AP001619.1         98399-98526         c
            129-6473            AB047784.1         1-6345
FEATURES             Location/Qualifiers
     source          1..6473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..6473
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /note="C2 calcium dependent domain containing 2"
                     /db_xref="GeneID:25966"
                     /db_xref="HGNC:HGNC:1266"
                     /db_xref="MIM:617581"
     exon            1..649
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     CDS             371..2461
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /note="isoform 1 is encoded by transcript variant 1;
                     TMEM24 related geme; C2 domain-containing protein 2;
                     transmembrane protein 24-like"
                     /codon_start=1
                     /product="C2 domain-containing protein 2 isoform 1"
                     /protein_id="NP_056315.1"
                     /db_xref="CCDS:CCDS42933.1"
                     /db_xref="GeneID:25966"
                     /db_xref="HGNC:HGNC:1266"
                     /db_xref="MIM:617581"
                     /translation="MAMARLGSWLGEAQWLALVSLFVAALATVGLYLAQWALARARPQ
                     PQRRAVEPGEGPRPGSDALLSWILTLGSWRSQWQAAWVTALNEEAERKGGPPFLSFEE
                     DPRQQALELVVQEVSSVLRSAEEKVVVCHVVGQAIQFLVSETPALGAGCRLYDMRLSP
                     FHLQLEFHMKEKREDLQISWSFISVPEMAVNIQPKALGEDQVAETSAMSDVLKDILKH
                     LAGSASPSVVLITKPTTVKEAQNLQCAASTAQESCPPKPPRAHELKLLVRNIHVLLLS
                     EPGASGHINAVCVVQLNDPVQRFSSTLTKNTPDLMWEEEFTFELNAKSKELHLQISEA
                     GRSSEGLLATATVPLDLFKKQPSGPQSFTLTSGSACGSSVLGSVTAEFSYMEPGELKS
                     WPIPPPVPAAKIEKDRTVMPCGTVVTTVTAVKTKPRVDVGRASPLSSDSPVKTPIKVK
                     VIEKDISVQAIACRSAPVSKTLSSSDTELLVLNGSDPVAEVAIRQLSESSKLKLKSPR
                     KKSTIIISGISKTSLSQDHDAALMQGYTASVDSTHQEDAPSHPERAAASAPPEEAESA
                     QASLAPKPQEDELDSWDLEKEPQAAAWSSQVLLDPDGDELSESSMSVLEPGTAKKHKG
                     GILRKGAKLFFRRRHQQKDPGMSQSHNDLVFLEQPEGSRRKGITLTRILNKKLLSRHR
                     NKNTMNGAPVEPCT"
     exon            650..748
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            749..862
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            863..967
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1090
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1214
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1323
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1388
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1513
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1688
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..1802
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1803..1930
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            1931..2240
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     exon            2241..6473
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6450..6455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /note="hexamer: AATAAA"
     polyA_site      6473
                     /gene="C2CD2"
                     /gene_synonym="C21orf25; C21orf258; TMEM24L"
                     /note="major polyA site"
ORIGIN      
        1 agagcctcct ccggccaccg ctgggccgcg ggcgggacgc ccggggcggc gcgcgcagga
       61 ggaagcgcgg cccgcagcgg cccaggaact tcccagacgc cgagtcggga gcgcgggccg
      121 cggggtccgc tcgcgcccct gttccgcagg tgtgcggggc ttgcgcccag cccgggccgc
      181 ggccgccgcg cgtttcctcc ccgcttgccc gcccagaggc ccccggccac gctcctcgcc
      241 gggctccgac cccgccgcgc cccctccacg cccccagcgc gctgtggccg cagccagcgc
      301 gtgtcctgag tccgccgttc cggcccgggg ctgccgggga agttggggcg aggcgggccg
      361 gggatgcgcc atggccatgg cccggctggg ctcgtggctc ggggaggcgc agtggctcgc
      421 gctggtgtcg ctcttcgtcg cggccctggc cacggtaggc ctgtacctgg cgcagtgggc
      481 gctggccagg gcgcgacccc agccccagcg gcgggcggtg gagcctggag aggggccgcg
      541 cccggggtcc gacgcgctgc tctcctggat cctgacgctg ggcagctgga ggagccagtg
      601 gcaggcggcc tgggtgaccg ccctgaacga ggaggccgag aggaaagggg gcccaccttt
      661 cctgtccttt gaggaggacc cgcggcagca ggcactggag ctggtggtgc aggaggtctc
      721 cagcgtgctc aggtcggcgg aggagaaggt ggtggtctgt cacgtggtgg gccaggctat
      781 tcagttcttg gtcagcgaga cgcctgcctt gggtgctgga tgccggctgt acgacatgcg
      841 gctctcccct ttccatttac agctggagtt ccacatgaag gagaagagag aggacctcca
      901 gattagctgg tctttcatca gtgtgccgga aatggccgtt aatatccagc ccaaagcact
      961 gggggaggac caggtggctg agacaagtgc gatgtctgac gttctcaagg acatcttgaa
     1021 gcatttggct ggttctgcct ctccatcagt ggttctgatt accaagccca cgactgtaaa
     1081 ggaagctcag aacttacagt gtgctgcatc tactgctcag gaatcctgtc ctcctaaacc
     1141 tccaagggct cacgagctga agctactggt gaggaacatc cacgtcttgc tgctcagcga
     1201 gcccggtgcc tcaggccaca ttaatgcagt gtgcgtcgtg cagctgaacg atcctgttca
     1261 gaggttctcc agcaccctga cgaaaaacac tccggacctc atgtgggaag aggaattcac
     1321 cttcgagttg aatgccaagt cgaaggagtt acacctgcag atttcagagg ctgggcgatc
     1381 ctcagaaggt ctgctggcga cggcgacagt tcctctggac ttatttaaga agcagccttc
     1441 tgggccacag agcttcacgc tgaccagcgg gtctgcctgc ggcagctcgg tgctgggctc
     1501 ggtcacggca gagttctctt acatggaacc tggtgaattg aaatcctggc ccatccctcc
     1561 ccctgttcct gctgcaaaaa tagaaaagga ccgcacggtg atgccctgtg ggactgtggt
     1621 cactactgtc actgctgtga agaccaagcc tcgcgtcgac gtggggaggg cgtccccgct
     1681 gagctctgat tctccggtga agactcccat caaggtgaag gtgatcgaga aggacatctc
     1741 tgtccaggcc atcgcctgcc gcagcgcccc cgtcagcaaa acactctctt cttcagacac
     1801 agaattgttg gtgttgaatg gttcggatcc agtggctgaa gtggccattc gacagctcag
     1861 tgaatcttca aagctgaaac tcaagtcgcc acggaagaaa agcactatta tcatatcagg
     1921 gatctccaag acctcactat ctcaggacca cgacgctgcc ctgatgcagg gctacacggc
     1981 ctctgtggac agcacccacc aggaggacgc cccatcccat ccggagaggg cggcagcctc
     2041 tgccccgcca gaggaagccg agtcagccca ggcatccctt gcccccaagc cccaggagga
     2101 cgagctagac tcctgggact tggagaagga gccacaggcc gcggcatgga gcagccaggt
     2161 cctgctggac cccgacggtg atgagctgtc agagagctcc atgagtgtct tggagccggg
     2221 cactgccaaa aagcataaag gaggaattct aaggaaaggt gcaaagctgt tcttccgccg
     2281 gcggcatcaa cagaaagacc caggcatgag tcagtcacac aatgaccttg tgttcctgga
     2341 gcagccagag ggttcccgga ggaaaggcat caccctcacc aggatcctga acaagaagct
     2401 gctctccagg cacagaaaca agaacaccat gaacggtgcc cccgtggagc cctgcacgta
     2461 gggcctgagg tcatcacctc caagccagaa gacgtgcacc catgttaact accctcacca
     2521 ggacgcagcc agtgtgtccg ccggatgtcc agatgccccg cttgtcttgc tgggtttctt
     2581 ccaaccatct cgtcatttaa agggaaaaca aaatctgagt ctccagccag gaggcttctc
     2641 ccagagagga caaaaaagcc caacttgcca ccagatgcta aatgagactt gacagctgca
     2701 gagcttgggc tgtgctcata gctaagggtt agggttcaat attagaagga gattaacatt
     2761 ataagtgaaa taatatgctc taatagattg tggagggcag gtttgaggga cttagtttac
     2821 ctattctaca ctaacaagtg ttgttttggg tccatgcctg gaccatgtca caaaaaggag
     2881 gtgcccccct gtgctgtcac tgtgaatgga aaggatgggt cacctctctt catctgctgc
     2941 ttggaataaa aaatgcagct ggccctgagt acagggaagt ggaacatagg caggattttg
     3001 gattaataga gaaattttga taagaatgga gacgctacga cagatgtagg aagtcatcta
     3061 cctttgatat tagccataga acttgaacac taactatatc ctatgcatag tatgcagaac
     3121 acttttctaa gtttactttg agcctacttg caagtggaag atatatatat tctcacatgg
     3181 tttttacatt tttctctatc gtgttaaaag ctctaataat gctagtggag cagttgacat
     3241 ccagggtttt ttttcctgcc tgtcatactt gctaaacaag agcacagcgg gcctgtcaga
     3301 tgaagtcagg agccatacgt gaccgctcgt agaacacagt aaccaaacac atacatggat
     3361 tttgccaagt gctgccagta gccaaaacaa agtcttttta gggcaataga ggaaattatt
     3421 ttgtgtctca ggtgtcagtc ttaggaatgg aagtttaata acaaatgggc caaactcgca
     3481 ggacattcct tctatgagcg cttcagaatt ttgctgtgaa cagtcctctt ggacacaggt
     3541 tggggtgccc ttgtttgggt ttgttttggt ggaaaacatc acaaacctgg cacaccattt
     3601 gaatatccct aatatcattc cagtcgcttt cctcatcagt tgcctttcta tttcagttca
     3661 ttcacagatc tcacttctga atgtgccact tccagtagac atgctggtca aagagcagtc
     3721 atcattgggg tgaagtgttc ttgacagttt aatatgattc acttttctcc aaagacatgt
     3781 aaaaggctgt tacgaaagct tggcttctgt catggagacg gaaatgggca agcttccttc
     3841 cgtagcctct tgttaatcct taaacattaa atatttcggg ggtaatagag ccactggtga
     3901 gtaaaaacct atataaaaac caaaattata ggattttttc ttttttagta aaaaccggta
     3961 tcaaaaccaa aattatagga tttttttctt ttttagtaaa aacctatata aaaaccaaaa
     4021 ttataggatt ttttcttttt tagtaaaaac ctatatgaaa accaaaatta taggattttt
     4081 ttctttttta gtaaaaacct gtataaaaac caaaattata ggattttttt ttcttctttt
     4141 ttagagagag agattagaaa acgacattag gaatttcact ttaaaatgcg cattacaaac
     4201 ttcttaggtg ttccaggaat tatcaagtga ctttaaaatg acttttccaa cctgctttgt
     4261 ttttaaaaat tatattccag ttttaatcat tgtaaaaaaa gcacctggag tttcaaaaca
     4321 tgtgaatact accaagtttc tgtccccaaa gtcaggcatc actgttagtc ttttgggaca
     4381 gatgggacag atgttcactt taatgtttta cttgaagttt tactgctctt tgccatgtgg
     4441 taaaaagagg ctgagacata tttaagaatt ccaagaggat attatgtgtc agaatttcag
     4501 acactgatga gaagttttta attgttcttt tttatttgat tttggaattc aggtgcactc
     4561 tattcaagtg caaggatatc agaagttttt ttttatttaa aaaatttttt tttcgagatg
     4621 gagtttcact ctgttgccca ggctggagtg caatggcagc ttactgcaac ctccacctcc
     4681 tggttcaagc gattctcctg cctcagcctc ccaagtagct gggattacag gcacgcgcca
     4741 ccacacctgg ctaattctat ttagtagaaa tggagtctca ccatgttggt caggctggtc
     4801 tcgaactcct gacctcaggt gatccaccca ccttggcctc ccagcgtgct gggattatag
     4861 gcatgagcca ccaggccggc cccaggattt tatattaagc cttcttgctc tcaaaaaaaa
     4921 aaaaaggttt taactattcc atttccagat gaatcccatg agcgctgctt actgttgaat
     4981 accaaggtct agggctctgc ttcctgtaga cacgcacacg ttgtctccat ccaatggcct
     5041 tttctgaagt tacagaaaac accaacatgg gagggagttt atgaagcaaa ggcaaaggca
     5101 acacgtcggc tagcttcagg gtagcaccgt gagaaatggg ctgtattgat actgtgaatg
     5161 tttgttttcc aagctgtttt atacaggttt gttttttcat ggtgtagggt atttatgaca
     5221 aagtaaatgt tgtgaaggtt aaagataaat taagattatc caccaaatgc taaaaatact
     5281 gatgtgtaaa tcacctttat cgcctcacct cttctacaag cttttgtggc ttgagggctt
     5341 ttgtttttgg cttttgtctg gatgaaagtt ttgcccagtt gtgttttaaa aacaattcct
     5401 catgaacact aagattaatt gtgtctgtat ctctggaact gggtgctcat gttggtttta
     5461 atgagcttgc aacccttccc cgtttgcttt gtttaaggag gtgcctctgt tctttgtgga
     5521 ggagtgaaat ggagctttaa gtgtgtgtgt gtgttatgtg tgtttgcaca cacgcgtgtg
     5581 ttattgtagc aataacaaaa agtagccatc tccttgttcc agctgaaaac ctgctgtgag
     5641 agttttgaca gagcacttta ttttcgtcaa gtttcaagtc tgagttcaaa accagccctg
     5701 atcccttatg accaactgct actcgaccag tcgccactca gtggccacct ggtgcccgtt
     5761 tagatttttg cttgggtttt actggccacc tctatagacg agagttgcaa agttgctttg
     5821 agcagagagg gaaagattaa tttacactgc tggccaccga aggcaggtgt ttcctgggta
     5881 gtaatctcac ggctcttgat ctggaaactt cagagtacaa attggtggat ggtggaaggc
     5941 aggacacgta tctctgtctg acggaaaaca gacctcgggg ctggcgtaaa ccctgctgcc
     6001 aggccctctc cccactgccc caaaccggcc tagacacgaa gaccaaagca gcctgcacag
     6061 ggcaaggccc ccgcggaatc ctgcagagca aactcaggtt aacttgggtc catgaccgtt
     6121 tgcattcgaa acacaataca ctgcctcgtt ctctcagtta gcagctgggc agcagcgcac
     6181 cattcatcat ttaggcttgt ggtttgttgt ttactctacc aatgttatgt cgaaactgca
     6241 ttgtaaaaag agaagaaagt ggcaggtttt ccaggtccac ggaaaggttt ggcctgacgc
     6301 tggagtgcgg tgatgaactt acgtgacaat gattgtattc ctcagtagca ctttaaacgc
     6361 cgaagacagc cctgcagcaa gcctgcacac gggcttgggt gggttccttt ggagaagatg
     6421 tggctggaac acaaacaatc tttgaaagaa ataaatgtgc acacagaaca cta
//
