LOCUS       NM_153689               3691 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_153689
VERSION     NM_153689.6
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 3691)
  AUTHORS   Werren,E.A., Srinivasan,V.M., Gowda,V.K., Pandey,A., Vaish,S.,
            Kabbur,A.R., Nandeesh,B.N. and Srivastava,A.
  TITLE     A novel biallelic frameshift variant in C2orf69 causing
            developmental regression, seizures, microcephaly, autistic
            features, and hypertonia
  JOURNAL   Am J Med Genet A 191 (9), 2446-2450 (2023)
   PUBMED   37337918
REFERENCE   2  (bases 1 to 3691)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 3691)
  AUTHORS   Wong,H.H., Seet,S.H., Maier,M., Gurel,A., Traspas,R.M., Lee,C.,
            Zhang,S., Talim,B., Loh,A.Y.T., Chia,C.Y., Teoh,T.S., Sng,D.,
            Rensvold,J., Unal,S., Shishkova,E., Cepni,E., Nathan,F.M.,
            Sirota,F.L., Liang,C., Yarali,N., Simsek-Kiper,P.O., Mitani,T.,
            Ceylaner,S., Arman-Bilir,O., Mbarek,H., Gumruk,F., Efthymiou,S.,
            Cimen,D.U., Georgiadou,D., Sotiropoulou,K., Houlden,H., Paul,F.,
            Pehlivan,D., Laine,C., Chai,G., Ali,N.A., Choo,S.C., Keng,S.S.,
            Boisson,B., Yilmaz,E., Xue,S., Coon,J.J., Nguyen Ly,T.T.,
            Gilani,N., Hasbini,D., Kayserili,H., Zaki,M.S., Isfort,R.J.,
            Ordonez,N., Tripolszki,K., Bauer,P., Rezaei,N., Seyedpour,S.,
            Khotaei,G.T., Bascom,C.C., Maroofian,R., Chaabouni,M., Alsubhi,A.,
            Eyaid,W., Isikay,S., Gleeson,J.G., Lupski,J.R., Casanova,J.L.,
            Pagliarini,D.J., Akarsu,N.A., Maurer-Stroh,S., Cetinkaya,A.,
            Bertoli-Avella,A., Mathuru,A.S., Ho,L., Bard,F.A. and Reversade,B.
  TITLE     Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans
            and zebrafish that evokes a glycogen-storage-associated
            mitochondriopathy
  JOURNAL   Am J Hum Genet 108 (7), 1356 (2021)
   PUBMED   34214448
  REMARK    Correction to:[Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi:
            10.1016/j.ajhg.2021.05.003.. PMID: 34038740]
REFERENCE   4  (bases 1 to 3691)
  AUTHORS   Wong,H.H., Seet,S.H., Maier,M., Gurel,A., Traspas,R.M., Lee,C.,
            Zhang,S., Talim,B., Loh,A.Y.T., Chia,C.Y., Teoh,T.S., Sng,D.,
            Rensvold,J., Unal,S., Shishkova,E., Cepni,E., Nathan,F.M.,
            Sirota,F.L., Liang,C., Yarali,N., Simsek-Kiper,P.O., Mitani,T.,
            Ceylaner,S., Arman-Bilir,O., Mbarek,H., Gumruk,F., Efthymiou,S.,
            Ugurlu Ci Men,D., Georgiadou,D., Sotiropoulou,K., Houlden,H.,
            Paul,F., Pehlivan,D., Laine,C., Chai,G., Ali,N.A., Choo,S.C.,
            Keng,S.S., Boisson,B., Yilmaz,E., Xue,S., Coon,J.J., Ly,T.T.N.,
            Gilani,N., Hasbini,D., Kayserili,H., Zaki,M.S., Isfort,R.J.,
            Ordonez,N., Tripolszki,K., Bauer,P., Rezaei,N., Seyedpour,S.,
            Khotaei,G.T., Bascom,C.C., Maroofian,R., Chaabouni,M., Alsubhi,A.,
            Eyaid,W., Isikay,S., Gleeson,J.G., Lupski,J.R., Casanova,J.L.,
            Pagliarini,D.J., Akarsu,N.A., Maurer-Stroh,S., Cetinkaya,A.,
            Bertoli-Avella,A., Mathuru,A.S., Ho,L., Bard,F.A. and Reversade,B.
  TITLE     Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans
            and zebrafish that evokes a glycogen-storage-associated
            mitochondriopathy
  JOURNAL   Am J Hum Genet 108 (7), 1301-1317 (2021)
   PUBMED   34038740
  REMARK    GeneRIF: Loss of C2orf69 defines a fatal autoinflammatory syndrome
            in humans and zebrafish that evokes a glycogen-storage-associated
            mitochondriopathy.
            Erratum:[Am J Hum Genet. 2021 Jul 1;108(7):1356. doi:
            10.1016/j.ajhg.2021.06.009.. PMID: 34214448]
REFERENCE   5  (bases 1 to 3691)
  AUTHORS   Lausberg,E., Giesselmann,S., Dewulf,J.P., Wiame,E., Holz,A.,
            Salvarinova,R., van Karnebeek,C.D., Klemm,P., Ohl,K., Mull,M.,
            Braunschweig,T., Weis,J., Sommer,C.J., Demuth,S., Haase,C.,
            Stollbrink-Peschgens,C., Debray,F.G., Libioulle,C., Choukair,D.,
            Oommen,P.T., Borkhardt,A., Surowy,H., Wieczorek,D., Wagner,N.,
            Meyer,R., Eggermann,T., Begemann,M., Van Schaftingen,E.,
            Hausler,M., Tenbrock,K., van den Heuvel,L., Elbracht,M., Kurth,I.
            and Kraft,F.
  TITLE     C2orf69 mutations disrupt mitochondrial function and cause a
            multisystem human disorder with recurring autoinflammation
  JOURNAL   J Clin Invest 131 (12) (2021)
   PUBMED   33945503
  REMARK    GeneRIF: C2orf69 mutations disrupt mitochondrial function and cause
            a multisystem human disorder with recurring autoinflammation.
REFERENCE   6  (bases 1 to 3691)
  AUTHORS   Ripke,S., O'Dushlaine,C., Chambert,K., Moran,J.L., Kahler,A.K.,
            Akterin,S., Bergen,S.E., Collins,A.L., Crowley,J.J., Fromer,M.,
            Kim,Y., Lee,S.H., Magnusson,P.K., Sanchez,N., Stahl,E.A.,
            Williams,S., Wray,N.R., Xia,K., Bettella,F., Borglum,A.D.,
            Bulik-Sullivan,B.K., Cormican,P., Craddock,N., de Leeuw,C.,
            Durmishi,N., Gill,M., Golimbet,V., Hamshere,M.L., Holmans,P.,
            Hougaard,D.M., Kendler,K.S., Lin,K., Morris,D.W., Mors,O.,
            Mortensen,P.B., Neale,B.M., O'Neill,F.A., Owen,M.J.,
            Milovancevic,M.P., Posthuma,D., Powell,J., Richards,A.L.,
            Riley,B.P., Ruderfer,D., Rujescu,D., Sigurdsson,E., Silagadze,T.,
            Smit,A.B., Stefansson,H., Steinberg,S., Suvisaari,J., Tosato,S.,
            Verhage,M., Walters,J.T., Levinson,D.F., Gejman,P.V., Kendler,K.S.,
            Laurent,C., Mowry,B.J., O'Donovan,M.C., Owen,M.J., Pulver,A.E.,
            Riley,B.P., Schwab,S.G., Wildenauer,D.B., Dudbridge,F., Holmans,P.,
            Shi,J., Albus,M., Alexander,M., Campion,D., Cohen,D., Dikeos,D.,
            Duan,J., Eichhammer,P., Godard,S., Hansen,M., Lerer,F.B.,
            Liang,K.Y., Maier,W., Mallet,J., Nertney,D.A., Nestadt,G.,
            Norton,N., O'Neill,F.A., Papadimitriou,G.N., Ribble,R.,
            Sanders,A.R., Silverman,J.M., Walsh,D., Williams,N.M., Wormley,B.,
            Arranz,M.J., Bakker,S., Bender,S., Bramon,E., Collier,D.,
            Crespo-Facorro,B., Hall,J., Iyegbe,C., Jablensky,A., Kahn,R.S.,
            Kalaydjieva,L., Lawrie,S., Lewis,C.M., Lin,K., Linszen,D.H.,
            Mata,I., McIntosh,A., Murray,R.M., Ophoff,R.A., Powell,J.,
            Rujescu,D., Van Os,J., Walshe,M., Weisbrod,M., Wiersma,D.,
            Donnelly,P., Barroso,I., Blackwell,J.M., Bramon,E., Brown,M.A.,
            Casas,J.P., Corvin,A.P., Deloukas,P., Duncanson,A., Jankowski,J.,
            Markus,H.S., Mathew,C.G., Palmer,C.N., Plomin,R., Rautanen,A.,
            Sawcer,S.J., Trembath,R.C., Viswanathan,A.C., Wood,N.W.,
            Spencer,C.C., Band,G., Bellenguez,C., Freeman,C., Hellenthal,G.,
            Giannoulatou,E., Pirinen,M., Pearson,R.D., Strange,A., Su,Z.,
            Vukcevic,D., Donnelly,P., Langford,C., Hunt,S.E., Edkins,S.,
            Gwilliam,R., Blackburn,H., Bumpstead,S.J., Dronov,S., Gillman,M.,
            Gray,E., Hammond,N., Jayakumar,A., McCann,O.T., Liddle,J.,
            Potter,S.C., Ravindrarajah,R., Ricketts,M.,
            Tashakkori-Ghanbaria,A., Waller,M.J., Weston,P., Widaa,S.,
            Whittaker,P., Barroso,I., Deloukas,P., Mathew,C.G., Blackwell,J.M.,
            Brown,M.A., Corvin,A.P., McCarthy,M.I., Spencer,C.C., Bramon,E.,
            Corvin,A.P., O'Donovan,M.C., Stefansson,K., Scolnick,E.,
            Purcell,S., McCarroll,S.A., Sklar,P., Hultman,C.M. and
            Sullivan,P.F.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC097717.3.
            
            On Nov 23, 2018 this sequence version replaced NM_153689.5.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC036456.1, SRR1660803.70335.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319974.6/ ENSP00000312770.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-479               AC097717.3         32004-32482
            480-3691            AC097717.3         45773-48984
FEATURES             Location/Qualifiers
     source          1..3691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..3691
                     /gene="C2orf69"
                     /gene_synonym="COXPD53"
                     /note="chromosome 2 open reading frame 69"
                     /db_xref="GeneID:205327"
                     /db_xref="HGNC:HGNC:26799"
                     /db_xref="MIM:619219"
     exon            1..479
                     /gene="C2orf69"
                     /gene_synonym="COXPD53"
                     /inference="alignment:Splign:2.1.0"
     CDS             147..1304
                     /gene="C2orf69"
                     /gene_synonym="COXPD53"
                     /note="UPF0565 protein C2orf69; mitochondrial protein
                     C2orf69"
                     /codon_start=1
                     /product="mitochondrial protein C2orf69 precursor"
                     /protein_id="NP_710156.3"
                     /db_xref="CCDS:CCDS46482.1"
                     /db_xref="GeneID:205327"
                     /db_xref="HGNC:HGNC:26799"
                     /db_xref="MIM:619219"
                     /translation="MWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGARCS
                     LSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHH
                     VLYFPGDVQNYHEIMTRHPENYQWENWSLENVATILAHRFPNSYIWVIKCSRMHLHKF
                     SCYDNFVKSNMFGAPEHNTDFGAFKHLYMLLVNAFNLSQNSLSKKSLNVWNKDSIASN
                     CRSSPSHTTNGCQGEKVRTCEKSDESAMSFYPPSLNDASFTLIGFSKGCVVLNQLLFE
                     LKEAKKDKNIDAFIKSIRTMYWLDGGHSGGSNTWVTYPEVLKEFAQTGIIVHTHVTPY
                     QVRDPMRSWIGKEHKKFVQILGDLGMQVTSQIHFTKEAPSIENHFRVHEVF"
     exon            480..3691
                     /gene="C2orf69"
                     /gene_synonym="COXPD53"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C2orf69"
                     /gene_synonym="COXPD53"
                     /note="hexamer: ATTAAA"
     polyA_site      3691
                     /gene="C2orf69"
                     /gene_synonym="COXPD53"
                     /note="major polyA site"
ORIGIN      
        1 ctctgacgtc gtcgcctcag cgccggctcc cggccgggcc gcggccgccg accgttgagc
       61 cgccggctga gccgcctgct gaagtccctc cctcaggaac ccctccgcca ccctccacct
      121 ccgaaccgct ctcgcggcgg cgacccatgt gggggttcag gctcctgcgg tcgccgccgt
      181 tgctgctcct gctgccgcag ctcggaatcg gaaacgcctc gtcctgctct caggccagaa
      241 ccatgaaccc gggcggcagc ggcggcgcgc gatgctccct ctcggccgag gtgcgccgcc
      301 gtcagtgcct gcagctttcc accgtgcctg gagccgatcc gcagcgcagc aacgaattgc
      361 tcctgttggc ggcggccggg gagggactgg agcggcagga cctccccggg gacccagcga
      421 aggaggagcc gcagccgccg ccccagcatc acgtcctcta tttccctggg gatgtgcaga
      481 attaccatga aattatgact cgtcatcctg agaattatca atgggaaaac tggagtctag
      541 aaaatgttgc taccatttta gcccaccggt tccccaatag ttatatttgg gtgataaaat
      601 gttcccgaat gcatttgcac aaattcagct gctatgacaa ttttgtgaaa agtaacatgt
      661 ttggtgcccc agaacacaat actgactttg gagcttttaa gcacctttat atgttattag
      721 ttaatgcttt taatttaagt cagaatagtt tatcaaagaa aagtttgaat gtttggaata
      781 aggactccat agcatctaac tgtagatcca gtccttctca tactacgaat ggttgccagg
      841 gagaaaaagt gaggacctgt gaaaaatctg atgagtctgc catgagtttt tatccaccat
      901 cactaaatga cgcatctttt actttgattg gattcagtaa aggttgtgtt gttttgaatc
      961 agttgctttt tgaattgaaa gaagccaaga aagacaagaa catagatgct tttatcaaaa
     1021 gcataagaac aatgtattgg ctggatggtg gtcattctgg aggaagcaat acttgggtta
     1081 cttatccaga agtcttgaaa gaatttgcac aaacaggaat tatcgttcac actcatgtaa
     1141 caccttacca agtacgtgat ccaatgagat cttggattgg aaaggagcac aagaaatttg
     1201 ttcagatact tggggatctt ggtatgcagg tgactagcca aattcatttt acaaaggaag
     1261 ctccttccat agagaatcac ttcagggttc atgaagtatt ttgagattac aggtatatta
     1321 atgaacttgt tcagtggaag aacataagca cttttgagtg ttataaattc agataatggg
     1381 atgtaattca tagctgcatt gtcagttttg gggtatgggg ggaagcacac attcctaaaa
     1441 tgtgagtgta atgtgcaata gtattttttg cttgtgaatg tgagcagtta ttaatttgga
     1501 ttgagttaga attagttaat ttgaaatcta acaaggtggt ttgtaataat gctgaggaga
     1561 tataagaccc ttaaaatgaa agttacaaca ttgttcttat aaaaggtaac taaaattgtt
     1621 actgttggaa ataactgatt ttctgagtaa tgttttaaac taatttggtg acattttaac
     1681 agtaattagc tattttgagt ggaaatattt tcatttctct tcaaacaaaa gcaaaggtac
     1741 gatgctgttt tctatcattt tggaataact gcaccctgcc ttttgtgttt ttgtaaactc
     1801 cttgactcat tctttcatgt gtcaccaagt acttttctca tgagagtcaa catatatttg
     1861 tttccaaatg tccacaagtg tacaatagtg taaaggtggt ttttaaaaac atagccaggt
     1921 gtggtggcac gtgcctttag ttccagctac tcaggaggct aaggcaggag gattgcttga
     1981 gcccaggctg tgtggttcac cataattgtg tttgtgacta gctactgcac tccaacctgg
     2041 gcaacatagt gggacttcat ctctaaaaca aaacaaaaca aaattacact taagcactat
     2101 tgtttaattt ttaattgtca gtttatcatt attttgggta agacattctg gggtttcttg
     2161 aatcttgtcc aaaaaccagt tgttttggaa aattgcttta aattgagcat atttatgtat
     2221 attggataaa aatgtactac agagcaaatt tcaaattttt cattatatca gtctttttga
     2281 aaggatcaac ttggataaaa taaatatata atgctctatt tgttagagct ctattaaaaa
     2341 ggaaacagat tccatagatc taagtcaatg tttctccaga agcatgattt tgtctgccaa
     2401 aagaaaatag ctctctttgg ccaaaatgca aaattacatt gctataagaa aagttacaag
     2461 ggaaagtttg aagacacaaa tgatttaatt ttggctcaaa aactgaattt gcttaacact
     2521 gctacataat ttgggtgaag tttccttctg cccgtttttc ttgacctaga taaatacact
     2581 ttgagaaatc cagatctaat aaatgtcaac caacattgac attgtaattg ggtgattaca
     2641 ataaaaggtg agcagtttgt tgtttattaa taattagctt ttgcaggtaa tgaaatagca
     2701 gggaagtaac atgctgcttt aggactaaaa aaaaaaaaaa aaaaaagaca ctgaagctta
     2761 ataccttaat gacccagaag acctagattt ataaagccat atagaataaa aatgttaatt
     2821 tcttggtttc ttcccagaat tatattttaa tgactccata aatacattcc aaatattcag
     2881 agattcatga gaaaggattc ttaacaaatg tttaaaaata acatttcttt ttggtgtttt
     2941 aacacttaat tttataaact gcagaacagc atctctaaat ggcttttttt ttttttttaa
     3001 agacaaagta gtattatgtt gcttcagttt ctttaaatac ctcgtttctt ttgagaccaa
     3061 aaattcccat caaggaaata aatcagcctg attttaacat tttacatatt acattgcctt
     3121 taagcactat gattggatgg ctttttttct atttgtttaa taatccttgg ctaaattcac
     3181 atgtatctaa aggaaaatag ctgagttact gaattctata aggggaagaa aaagcattta
     3241 ttttcacatg attaactgaa atggaaaagt aagacattta gcagaataat tcatttaaaa
     3301 ataattttaa aaaatcagac atatttaaaa atctaggttg tctatccagt atgtgaatgc
     3361 ttaattataa ttgttacatg ttgaatgggt attaagagta agtcaccagg tacacaaaac
     3421 tgccatcata gcaaaatgag acagtgttga aaagacaaaa tattttctgg aatgaaaata
     3481 tattcaagtt gatccatatt cagatgtttt ctgtttaata cttcagattg gtcctttgtc
     3541 cacatttgtt taaaacttat tgtaatgtta atttacactt ttggattgtg cctttgtcat
     3601 gagttgagaa aagtagtcct acaaataatg tgaaagttgt taccaccaca gcatgaatgt
     3661 ataattgtat taaaattgat catccacaga a
//
