LOCUS       NM_005205                372 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 6A2 (COX6A2), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_005205 XM_001127854
VERSION     NM_005205.4
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 372)
  AUTHORS   Jiang,M., Song,Y., Chen,X., Lu,W., Zhu,M., Wei,M., Lan,F., Cui,M.
            and Bai,Y.
  TITLE     COX6A2 deficiency leads to cardiac remodeling in human pluripotent
            stem cell-derived cardiomyocytes
  JOURNAL   Stem Cell Res Ther 14 (1), 357 (2023)
   PUBMED   38072986
  REMARK    GeneRIF: COX6A2 deficiency leads to cardiac remodeling in human
            pluripotent stem cell-derived cardiomyocytes.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 372)
  AUTHORS   Khadimallah,I., Jenni,R., Cabungcal,J.H., Cleusix,M., Fournier,M.,
            Beard,E., Klauser,P., Knebel,J.F., Murray,M.M., Retsa,C.,
            Siciliano,M., Spencer,K.M., Steullet,P., Cuenod,M., Conus,P. and
            Do,K.Q.
  TITLE     Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony as
            biomarkers of parvalbumin interneurons, psychopathology, and
            neurocognition in schizophrenia
  JOURNAL   Mol Psychiatry 27 (2), 1192-1204 (2022)
   PUBMED   34686767
  REMARK    GeneRIF: Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony
            as biomarkers of parvalbumin interneurons, psychopathology, and
            neurocognition in schizophrenia.
REFERENCE   3  (bases 1 to 372)
  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   4  (bases 1 to 372)
  AUTHORS   Sanz-Morello,B., Pfisterer,U., Winther Hansen,N., Demharter,S.,
            Thakur,A., Fujii,K., Levitskii,S.A., Montalant,A., Korshunova,I.,
            Mammen,P.P., Kamenski,P., Noguchi,S., Aldana,B.I., Hougaard,K.S.,
            Perrier,J.F. and Khodosevich,K.
  TITLE     Complex IV subunit isoform COX6A2 protects fast-spiking
            interneurons from oxidative stress and supports their function
  JOURNAL   EMBO J 39 (18), e105759 (2020)
   PUBMED   32744742
  REMARK    GeneRIF: Complex IV subunit isoform COX6A2 protects fast-spiking
            interneurons from oxidative stress and supports their function.
REFERENCE   5  (bases 1 to 372)
  AUTHORS   Inoue,M., Uchino,S., Iida,A., Noguchi,S., Hayashi,S., Takahashi,T.,
            Fujii,K., Komaki,H., Takeshita,E., Nonaka,I., Okada,Y.,
            Yoshizawa,T., Van Lommel,L., Schuit,F., Goto,Y.I., Mimaki,M. and
            Nishino,I.
  TITLE     COX6A2 variants cause a muscle-specific cytochrome c oxidase
            deficiency
  JOURNAL   Ann Neurol 86 (2), 193-202 (2019)
   PUBMED   31155743
  REMARK    GeneRIF: Bi-allelic variants in COX6A2 cause a striated
            muscle-specific form of COX deficiency.
REFERENCE   6  (bases 1 to 372)
  AUTHORS   Bachman,N.J., Riggs,P.K., Siddiqui,N., Makris,G.J., Womack,J.E. and
            Lomax,M.I.
  TITLE     Structure of the human gene (COX6A2) for the heart/muscle isoform
            of cytochrome c oxidase subunit VIa and its chromosomal location in
            humans, mice, and cattle
  JOURNAL   Genomics 42 (1), 146-151 (1997)
   PUBMED   9177785
REFERENCE   7  (bases 1 to 372)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   8  (bases 1 to 372)
  AUTHORS   Taanman,J.W., Hall,R.E., Tang,C., Marusich,M.F., Kennaway,N.G. and
            Capaldi,R.A.
  TITLE     Tissue distribution of cytochrome c oxidase isoforms in mammals.
            Characterization with monoclonal and polyclonal antibodies
  JOURNAL   Biochim Biophys Acta 1225 (1), 95-100 (1993)
   PUBMED   8241294
REFERENCE   9  (bases 1 to 372)
  AUTHORS   Fabrizi,G.M., Sadlock,J., Hirano,M., Mita,S., Koga,Y., Rizzuto,R.,
            Zeviani,M. and Schon,E.A.
  TITLE     Differential expression of genes specifying two isoforms of subunit
            VIa of human cytochrome c oxidase
  JOURNAL   Gene 119 (2), 307-312 (1992)
   PUBMED   1327966
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP319904.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005205.3.
            
            Summary: Cytochrome c oxidase (COX), the terminal enzyme of the
            mitochondrial respiratory chain, catalyzes the electron transfer
            from reduced cytochrome c to oxygen. It is a heteromeric complex
            consisting of 3 catalytic subunits encoded by mitochondrial genes
            and multiple structural subunits encoded by nuclear genes. The
            mitochondrially-encoded subunits function in electron transfer, and
            the nuclear-encoded subunits may be involved in the regulation and
            assembly of the complex. This nuclear gene encodes polypeptide 2
            (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present
            only in striated muscles. Polypeptide 1 (liver isoform) of subunit
            VIa is encoded by a different gene, and is found in all non-muscle
            tissues. These two polypeptides share 66% amino acid sequence
            identity. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: F24255.1, BP316949.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155550, SAMEA2159607
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000287490.5/
                                                  ENSP00000287490.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-372               BP319904.1         69-440
FEATURES             Location/Qualifiers
     source          1..372
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..372
                     /gene="COX6A2"
                     /gene_synonym="COX6AH; COXVIa-M; COXVIAH; MC4DN18"
                     /note="cytochrome c oxidase subunit 6A2"
                     /db_xref="GeneID:1339"
                     /db_xref="HGNC:HGNC:2279"
                     /db_xref="MIM:602009"
     exon            1..108
                     /gene="COX6A2"
                     /gene_synonym="COX6AH; COXVIa-M; COXVIAH; MC4DN18"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..329
                     /gene="COX6A2"
                     /gene_synonym="COX6AH; COXVIa-M; COXVIAH; MC4DN18"
                     /EC_number="7.1.1.9"
                     /note="cytochrome c oxidase subunit 6A2, mitochondrial;
                     COX VIa-M; cytochrome c oxidase subunit VIA-muscle;
                     cytochrome c oxidase polypeptide VIa-heart; cytochrome c
                     oxidase subunit VIa polypeptide 2"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 6A2, mitochondrial
                     precursor"
                     /protein_id="NP_005196.1"
                     /db_xref="CCDS:CCDS10712.1"
                     /db_xref="GeneID:1339"
                     /db_xref="HGNC:HGNC:2279"
                     /db_xref="MIM:602009"
                     /translation="MALPLRPLTRGLASAAKGGHGGAGARTWRLLTFVLALPSVALCT
                     FNSYLHSGHRPRPEFRPYQHLRIRTKPYPWGDGNHTLFHNSHVNPLPTGYEHP"
     exon            109..245
                     /gene="COX6A2"
                     /gene_synonym="COX6AH; COXVIa-M; COXVIAH; MC4DN18"
                     /inference="alignment:Splign:2.1.0"
     exon            246..372
                     /gene="COX6A2"
                     /gene_synonym="COX6AH; COXVIa-M; COXVIAH; MC4DN18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      352..357
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX6A2"
                     /gene_synonym="COX6AH; COXVIa-M; COXVIAH; MC4DN18"
                     /note="hexamer: AATAAA"
     polyA_site      372
                     /gene="COX6A2"
                     /gene_synonym="COX6AH; COXVIa-M; COXVIAH; MC4DN18"
                     /note="major polyA site"
ORIGIN      
        1 gaggacagcg ctggttcccg gctccccgca ccatcatggc tttgcctctg aggcccctga
       61 cccggggctt ggccagcgct gccaaaggag gccacggagg agcaggagct cgtacctggc
      121 gtctgctgac cttcgtgctg gcgctgccca gcgtggccct ctgcaccttc aactcctatc
      181 tccactcggg ccaccgcccg cgccccgagt tccgtcccta ccaacacctc cgcatccgca
      241 ccaagcccta cccctggggg gacggcaacc acactctgtt ccacaatagc cacgtgaacc
      301 ctctgcccac gggctacgaa cacccctgag gccccggacg cccccggaca caataaaggt
      361 gtgaagcttc ga
//
