LOCUS       NM_001290474            4807 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens C2CD2 like (C2CD2L), transcript variant 2, mRNA.
ACCESSION   NM_001290474 XM_005271738
VERSION     NM_001290474.2
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 4807)
  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 4807)
  AUTHORS   Cao,X., Khitun,A., Luo,Y., Na,Z., Phoodokmai,T., Sappakhaw,K.,
            Olatunji,E., Uttamapinant,C. and Slavoff,S.A.
  TITLE     Alt-RPL36 downregulates the PI3K-AKT-mTOR signaling pathway by
            interacting with TMEM24
  JOURNAL   Nat Commun 12 (1), 508 (2021)
   PUBMED   33479206
  REMARK    GeneRIF: Alt-RPL36 downregulates the PI3K-AKT-mTOR signaling
            pathway by interacting with TMEM24.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4807)
  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   4  (bases 1 to 4807)
  AUTHORS   Sun,E.W., Guillen-Samander,A., Bian,X., Wu,Y., Cai,Y., Messa,M. and
            De Camilli,P.
  TITLE     Lipid transporter TMEM24/C2CD2L is a Ca2+-regulated component of
            ER-plasma membrane contacts in mammalian neurons
  JOURNAL   Proc Natl Acad Sci U S A 116 (12), 5775-5784 (2019)
   PUBMED   30819882
REFERENCE   5  (bases 1 to 4807)
  AUTHORS   Lees,J.A., Messa,M., Sun,E.W., Wheeler,H., Torta,F., Wenk,M.R., De
            Camilli,P. and Reinisch,K.M.
  TITLE     Lipid transport by TMEM24 at ER-plasma membrane contacts regulates
            pulsatile insulin secretion
  JOURNAL   Science 355 (6326) (2017)
   PUBMED   28209843
  REMARK    GeneRIF: In the absence of TMEM24, calcium oscillations are
            abolished, leading to a defect in triggered insulin release.
REFERENCE   6  (bases 1 to 4807)
  AUTHORS   Pottekat,A., Becker,S., Spencer,K.R., Yates,J.R. 3rd, Manning,G.,
            Itkin-Ansari,P. and Balch,W.E.
  TITLE     Insulin biosynthetic interaction network component, TMEM24,
            facilitates insulin reserve pool release
  JOURNAL   Cell Rep 4 (5), 921-930 (2013)
   PUBMED   24012759
  REMARK    GeneRIF: Paper describes the tissue distribution, interaction
            partners and pathway where this protein functions.  This paper
            shows that C2CD2L (TMEM24) interacts with insulin and plays a role
            in Glucose stimulated insulin secretion in pancreatic islets. Also,
            at protein level shows enrichment for expression in pancreatic
            islets and brain.
REFERENCE   7  (bases 1 to 4807)
  AUTHORS   Calinisan,V., Gravem,D., Chen,R.P., Brittin,S., Mohandas,N.,
            Lecomte,M.C. and Gascard,P.
  TITLE     New insights into potential functions for the protein 4.1
            superfamily of proteins in kidney epithelium
  JOURNAL   Front Biosci 11, 1646-1666 (2006)
   PUBMED   16368544
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4807)
  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
REFERENCE   9  (bases 1 to 4807)
  AUTHORS   Ohara,O., Nagase,T., Ishikawa,K., Nakajima,D., Ohira,M., Seki,N.
            and Nomura,N.
  TITLE     Construction and characterization of human brain cDNA libraries
            suitable for analysis of cDNA clones encoding relatively large
            proteins
  JOURNAL   DNA Res 4 (1), 53-59 (1997)
   PUBMED   9179496
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP003391.1, DA768421.1, DA801995.1, BC022219.1, AB094094.1,
            BX327704.2 and CA309483.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001290474.1.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site, compared to variant 1. The encoded protein (isoform 2)
            is shorter, compared to isoform 1. Variants 2 and 5 both encode the
            same isoform (2).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.195234.1, BC022219.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000648610.2/ ENSP00000497391.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AP003391.1         22116-22121
            7-47                DA768421.1         10-50
            48-78               DA801995.1         39-69
            79-140              DA768421.1         82-143
            141-265             BC022219.1         1-125
            266-1887            AB094094.1         228-1849
            1888-3380           BC022219.1         1748-3240
            3381-3384           BX327704.2         748-751
            3385-3387           CA309483.1         19-21               c
            3388-4807           AP003391.1         31897-33316
FEATURES             Location/Qualifiers
     source          1..4807
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..4807
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /note="C2CD2 like"
                     /db_xref="GeneID:9854"
                     /db_xref="HGNC:HGNC:29000"
                     /db_xref="MIM:617582"
     exon            1..752
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     CDS             399..2519
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /note="isoform 2 is encoded by transcript variant 2;
                     transmembrane protein 24; C2 domain-containing protein
                     2-like; phospholipid transfer protein C2CD2L"
                     /codon_start=1
                     /product="phospholipid transfer protein C2CD2L isoform 2"
                     /protein_id="NP_001277403.1"
                     /db_xref="CCDS:CCDS91609.1"
                     /db_xref="GeneID:9854"
                     /db_xref="HGNC:HGNC:29000"
                     /db_xref="MIM:617582"
                     /translation="MDPGWGQRDVGWAALLILFAASLLTVFAWLLQYARGLWLARARG
                     DRGPGPALAGEPAGSLRELGVWRSLLRLRATRAGAAEEPGVRGLLASLFAFKSFRENW
                     QRAWVRALNEQACRNGSSIQIAFEEVPQLPPRASISHVTCVDQSEHTMVLRCQLSAEE
                     VRFPVSVTQQSPAAVSMETYHVTLTLPPTQLEVNLEEIPGEGLLISWAFTDRPDLSLT
                     VLPKLQARERGEEQVELSTIEELIKDAIVSTQPAMMVNLRACSAPGGLVPSEKPPMMP
                     QAQPAIPRPNRLFLRQLRASHLGNELEGTEELCCVAELDNPMQQKWTKPARAGSEVEW
                     TEDLALDLGPQSRELTLKVLRSSSCGDTELLGQATLPVGSPSRPLSRRQLCPLTPGPG
                     KALGPAATMAVELHYEEGSPRNLGTPTSSTPRPSITPTKKIELDRTIMPDGTIVTTVT
                     TVQSRPRIDGKLDSPSRSPSKVEVTEKTTTVLSESSGPSNTSHSSSRDSHLSNGLDPV
                     AETAIRQLTEPSGRVAKKTPTKRSTLIISGVSKVPIAQDELALSLGYAASLEASVQDD
                     AGTSGGPSSPPSDPPAMSPGPLDALSSPTSVQEADETTRSDISERPSVDDIESETGST
                     GALETRSLKDHKVSFLRSGTKLIFRRRPRQKEAGLSQSHDDLSNATATPSVRKKAGSF
                     SRRLIKRFSFKSKPKANGNPSPQL"
     exon            753..848
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            849..968
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1079
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1196
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1308
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1417
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1482
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1610
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..1785
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1887
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            1888..2021
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            2022..2307
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     exon            2308..4807
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3359..3364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /note="hexamer: ATTAAA"
     polyA_site      3380
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /note="major polyA site"
     regulatory      4590..4595
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /note="hexamer: TATAAA"
     polyA_site      4610
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
     regulatory      4786..4791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
                     /note="hexamer: ATTAAA"
     polyA_site      4807
                     /gene="C2CD2L"
                     /gene_synonym="DLNB23; TMEM24"
ORIGIN      
        1 ggtgttgtca gtgtcagctc tgcgcacgca gccctcccgg agccggtgcc ggcccgcgag
       61 ccccagcgtc tctgcagacc agtcccctcc agggtccggc ggggcccgcg cggtgggagg
      121 agtcgggcac tggccggcga ctaacgggtc cgactgctga ccaagctagg agagacccgg
      181 accacggaga cagagacccc ggcatcgcga cccccgagga cctcctctcc tcgccctgtg
      241 gcacccacta gtcctgggca ctcagccgcg gagagccccc gaccccgcgc gcccagcccc
      301 gggggagccc acctcctccc cgcggcccgc ccgggccatg ctcccccggg gcagcgggtg
      361 agccccagcc gggaccggga tcggagcccg cgcggagcat ggatccgggc tgggggcagc
      421 gggacgtggg ctgggcggcc ttgctgatcc tcttcgccgc ctcgctgctc acggtgttcg
      481 cctggctgct gcaatatgcc cggggcttgt ggctggcgcg ggcccgcggg gaccggggcc
      541 cgggacccgc cttagccggg gaacccgcgg gttccctgcg ggagctgggc gtgtggcgct
      601 cgctgctgcg gctgcgggcg actcgggctg gcgccgccga ggagccagga gtccggggcc
      661 tcctggcgtc actcttcgcc ttcaagtctt tccgggagaa ctggcagcgg gcttgggtgc
      721 gagcgctgaa cgagcaggcc tgcagaaacg ggagctccat ccaaatcgcc tttgaggagg
      781 tgccccaact cccacccaga gccagcatca gtcatgtgac ctgcgtagac caatctgagc
      841 ataccatggt gctgcgttgc cagctctctg ctgaggaggt gcggttccca gtctctgtga
      901 cccagcagtc ccccgctgcc gtctccatgg agacctacca cgtcactctg acactgccac
      961 caacacagtt ggaagtcaac ctggaggaaa tccctggtga ggggctgctc atatcctggg
     1021 ccttcactga tcgcccagat ctcagcctaa cggtgcttcc caagcttcag gccagggaga
     1081 gaggtgaaga acaagtggag ctctccacaa ttgaggaact gatcaaggat gccatagtca
     1141 gcacccagcc agccatgatg gtcaacctca gggcttgctc tgccccagga ggcctggtac
     1201 ccagtgagaa gccacccatg atgccccagg ctcagccagc catccccaga cctaaccggt
     1261 tattcctacg gcagcttcgg gcatctcact tgggaaatga gctggaaggc accgaggaac
     1321 tgtgctgtgt agctgaactc gacaacccca tgcagcagaa gtggaccaag cccgcgaggg
     1381 ctggatccga ggtggagtgg acagaagacc tggcactgga tctgggcccc cagagccggg
     1441 agctgaccct caaagtgctg aggagcagca gctgtggaga caccgaactc ctaggccagg
     1501 ccacactgcc tgtgggctcc ccctccagac cactgtctcg aagacagttg tgcccactca
     1561 ccccagggcc agggaaagcc ctgggaccag cagccaccat ggcagtggag cttcactatg
     1621 aggagggctc tccccggaac ctgggtactc ccacctcctc cactccacgc cccagcatca
     1681 cacctaccaa gaagattgag cttgaccgga ccatcatgcc cgatggcacc attgtcacca
     1741 cagtcaccac tgtccagtcc cggccccgta tagacggcaa attagactcc ccctcccgct
     1801 ccccgtccaa ggtggaggtg accgagaaga cgacaactgt gctgagtgag agcagtggcc
     1861 ccagcaatac ctcccatagc agcagccggg acagccacct ttccaacggc ttggaccctg
     1921 tagcagagac agcgattcgc cagctgacag agcccagtgg gcgggtggcc aagaagacac
     1981 ccaccaagcg cagcactctc atcatctctg gtgtttccaa ggtgcccatt gctcaggacg
     2041 agttggcgct atccctgggc tatgcggcat ccctggaagc ctcagtgcag gatgatgcag
     2101 ggaccagcgg aggcccctct tcacctccct cagacccacc agccatgtct ccaggaccgc
     2161 tagatgccct ctctagtccc acaagtgtcc aggaagcaga cgagacaacc cgttcggata
     2221 tttctgagag gccatctgtg gatgatattg agtcggaaac ggggtccact ggtgccctgg
     2281 agacccgcag cctcaaggat cacaaagtga gtttcctgcg cagcggcact aagctcatct
     2341 tccgccggag gcctaggcag aaggaagctg gcctgagcca atcacacgat gacctctcca
     2401 acgcaacggc cacgcccagt gtccgaaaga aggccggcag cttttctcgc cgccttatca
     2461 agcgcttttc cttcaaatcc aaacccaagg ccaatggtaa ccccagcccc cagctctgag
     2521 gacccagctc tgaaagggca cgagttctct cagcccattc cccacctccc cttccatacc
     2581 ccttcctgga tctccagtgc ctgggccagg aaagccctct gggttccggg aagccccgtc
     2641 caccctgggc catggggccg gttggaagga tacttggaac gggaagcaca tgagaggtgg
     2701 gcacccggtg ccgaggacat ggacgaggga ctggtggctg ggagggagag gagggccctg
     2761 tccggcatgt gtgggtattc cccagaagca tttgcctcct gctgagcctg gtccctgagc
     2821 ggagtcccag ggtgctcagc tcttcagctg acccttcttc ccttatttat tctcttttct
     2881 atttatatgt gtggcttagg accctccgtg aacagatgat agagggcatc tctcccaggt
     2941 gacccttctt ttctgtccca ggagggtggg taattccctt tgggatgggg ctcccacacc
     3001 tccctcaggt ccccactcag accagcacca gtgtctgcct ctgagaatgt tggcagctca
     3061 cagagagcag ggccggcccg ggatgggggg caggtactcc ccaccttcct gcctcccctc
     3121 ctgctcctca tccctccctc cccctttatt accgtttttt gtacttgatg ccttctctgt
     3181 gagcagtggc tctgtgggaa ggagggagcc gggagcctgg tgggaagcct tccccagaga
     3241 gatggcttta ggggctttat ttaaagactg tgatgatgga gccacgcaag gctgcacctc
     3301 tgtgtgttgg gagacgatga tgatgtccat tgctgtgtga tggcttggaa tttaatttat
     3361 taaagtcaaa ttggagttta taaactggac aactggttat cctttgaaag gcagtaggca
     3421 gccaggctgt gacatggatg gtgtgggagg atgagacagg ggcccggata atgaggttgg
     3481 gtagatgaca cacattgtgg atctgctaag aagttcctgc agggaagaag gggtgtgcag
     3541 agaaaggatg gaagagacag gaggctctgg agtatgaaat tgtagcaaaa aactcaatca
     3601 actagtacag gttagtcttc attccccttt ctggaacagg ctgctccttc taggatgtaa
     3661 tggagatcaa agcttggacc ctgtaactag actgcctgcc tgggtttgag tcccagctct
     3721 tctaattact tgtgtgacct tgggcaagtt atgtaacctc taagtgcctc agttttctca
     3781 tctgtaaaat gggaacttca atcatcatgg ctatcatttg gttgtggatg agaagtaaat
     3841 gaagtgctga gtgttaactg ttgcctcaga agaaactggg agggggaagt cttagaagtg
     3901 tttcaacata ataaaagctc tctcattctg aaatgtgggc aaatttcagg gattgataga
     3961 tcctagcaaa ctgtgtccct ggttcccgtg cttgagatct tatacaggac ttgaaccagg
     4021 taagctgcta caggatattg ggcagaatgc aggaccagga agcaagaaaa ctgagtctgc
     4081 cacagacaaa ccaagtgatc ttgagcaggc aacttctcct ttggggacct cagtttcctc
     4141 atatctaaaa taagggtgac ctggataaac attcaggtca cttccagcct tgacattcta
     4201 tgactaccta tatctcaggg tgtttagggc acatgccttt gggtagatag catgtggaaa
     4261 ttgttactat tccccatgct cctgtccaca ctactcacca aatatgagat atccgggaag
     4321 aatggagggt atagattttt tttttcaatt agataattta gttttatata tttgggggga
     4381 caagtgcagg tttcttacat gcatatattg catgcataga ggtgaagtct gggctttttt
     4441 tagtgtgcgc atcgcccaaa tagtgaacat catacccaat aggtagtttt tcaaccctca
     4501 ccctcctccc accttctcac ctttcatagt ctccgatgtc ttttattcca ctctatatgt
     4561 ccatgtatac ccattattta gctcccactt ataaatgaga atatgccata tttgactttg
     4621 tttctgagtt atttcaccga ggataatggc ctccagttcc acccatgttg ctggaaaaca
     4681 catgatttca ttctttttta tggctgagta gtattccact gtgtgtgtgt gtgttgggcg
     4741 atgataatga tgtccattgc tgtgtgacag cttggaattt aatttattaa agtcaagttg
     4801 gagttta
//
