LOCUS       NM_130902                556 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens cytochrome c oxidase subunit 7B2 (COX7B2), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_130902
VERSION     NM_130902.3
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 556)
  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   2  (bases 1 to 556)
  AUTHORS   Al Safar,H.S., Cordell,H.J., Jafer,O., Anderson,D., Jamieson,S.E.,
            Fakiola,M., Khazanehdari,K., Tay,G.K. and Blackwell,J.M.
  TITLE     A genome-wide search for type 2 diabetes susceptibility genes in an
            extended Arab family
  JOURNAL   Ann Hum Genet 77 (6), 488-503 (2013)
   PUBMED   23937595
REFERENCE   3  (bases 1 to 556)
  AUTHORS   Anttila,V., Winsvold,B.S., Gormley,P., Kurth,T., Bettella,F.,
            McMahon,G., Kallela,M., Malik,R., de Vries,B., Terwindt,G.,
            Medland,S.E., Todt,U., McArdle,W.L., Quaye,L., Koiranen,M.,
            Ikram,M.A., Lehtimaki,T., Stam,A.H., Ligthart,L., Wedenoja,J.,
            Dunham,I., Neale,B.M., Palta,P., Hamalainen,E., Schurks,M.,
            Rose,L.M., Buring,J.E., Ridker,P.M., Steinberg,S., Stefansson,H.,
            Jakobsson,F., Lawlor,D.A., Evans,D.M., Ring,S.M., Farkkila,M.,
            Artto,V., Kaunisto,M.A., Freilinger,T., Schoenen,J., Frants,R.R.,
            Pelzer,N., Weller,C.M., Zielman,R., Heath,A.C., Madden,P.A.F.,
            Montgomery,G.W., Martin,N.G., Borck,G., Gobel,H., Heinze,A.,
            Heinze-Kuhn,K., Williams,F.M.K., Hartikainen,A.L., Pouta,A., van
            den Ende,J., Uitterlinden,A.G., Hofman,A., Amin,N., Hottenga,J.J.,
            Vink,J.M., Heikkila,K., Alexander,M., Muller-Myhsok,B.,
            Schreiber,S., Meitinger,T., Wichmann,H.E., Aromaa,A.,
            Eriksson,J.G., Traynor,B., Trabzuni,D., Rossin,E., Lage,K.,
            Jacobs,S.B.R., Gibbs,J.R., Birney,E., Kaprio,J., Penninx,B.W.,
            Boomsma,D.I., van Duijn,C., Raitakari,O., Jarvelin,M.R.,
            Zwart,J.A., Cherkas,L., Strachan,D.P., Kubisch,C., Ferrari,M.D.,
            van den Maagdenberg,A.M.J.M., Dichgans,M., Wessman,M., Smith,G.D.,
            Stefansson,K., Daly,M.J., Nyholt,D.R., Chasman,D. and Palotie,A.
  CONSRTM   North American Brain Expression Consortium; UK Brain Expression
            Consortium
  TITLE     Genome-wide meta-analysis identifies new susceptibility loci for
            migraine
  JOURNAL   Nat Genet 45 (8), 912-917 (2013)
   PUBMED   23793025
REFERENCE   4  (bases 1 to 556)
  AUTHORS   Wang,L., McDonnell,S.K., Hebbring,S.J., Cunningham,J.M., St
            Sauver,J., Cerhan,J.R., Isaya,G., Schaid,D.J. and Thibodeau,S.N.
  TITLE     Polymorphisms in mitochondrial genes and prostate cancer risk
  JOURNAL   Cancer Epidemiol Biomarkers Prev 17 (12), 3558-3566 (2008)
   PUBMED   19064571
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 556)
  AUTHORS   Liang,H., Chen,H., Shen,Y., Feng,Q., Jin,W., Huang,W. and Zeng,Y.
  TITLE     A rare polymorphism of the COX7B2 gene in a Cantonese family with
            nasopharyngeal carcinoma
  JOURNAL   Sci China C Life Sci 47 (5), 449-453 (2004)
   PUBMED   15623157
  REMARK    GeneRIF: codon 26 of COX7B2 gene might be evolutionarily conserved
            and the rare variation His26Gln may be associated with a high risk
            of nasopharyngeal carcinoma
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107383.3, DB447854.1, BC035923.1 and BC107855.1.
            
            On Nov 22, 2018 this sequence version replaced NM_130902.2.
            
            ##Evidence-Data-START##
            CDS exon combination :: BG214406.1, BG186379.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA1968968, SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000355591.8/
                                                  ENSP00000347799.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC107383.3         80623-80632         c
            11-24               DB447854.1         1-14
            25-530              BC035923.1         12-517
            531-556             BC107855.1         592-617
FEATURES             Location/Qualifiers
     source          1..556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..556
                     /gene="COX7B2"
                     /note="cytochrome c oxidase subunit 7B2"
                     /db_xref="GeneID:170712"
                     /db_xref="HGNC:HGNC:24381"
                     /db_xref="MIM:609811"
     exon            1..86
                     /gene="COX7B2"
                     /inference="alignment:Splign:2.1.0"
     exon            87..141
                     /gene="COX7B2"
                     /inference="alignment:Splign:2.1.0"
     exon            142..556
                     /gene="COX7B2"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..436
                     /gene="COX7B2"
                     /EC_number="7.1.1.9"
                     /note="cytochrome c oxidase subunit 7B2, mitochondrial;
                     cytochrome c oxidase polypeptide VIIb2; cytochrome c
                     oxidase subunit VIIb2"
                     /codon_start=1
                     /product="cytochrome c oxidase subunit 7B2, mitochondrial
                     precursor"
                     /protein_id="NP_570972.2"
                     /db_xref="CCDS:CCDS3472.2"
                     /db_xref="GeneID:170712"
                     /db_xref="HGNC:HGNC:24381"
                     /db_xref="MIM:609811"
                     /translation="MMFPLARNALSSLKIQSILQSMARHSHVKHSPDFHDKYGNAVLA
                     SGTAFCVATWVFTATQIGIEWNLSPVGRVTPKEWKHQ"
     regulatory      529..534
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COX7B2"
                     /note="hexamer: AATAAA"
     polyA_site      556
                     /gene="COX7B2"
                     /note="major polyA site"
ORIGIN      
        1 acccgacccc tccaggctgt aaaacggaaa ggttcggaat ttgcctctgc gccgtctttt
       61 tttgcctgtt acctgtgacg tccttggaag cagaatctga aactttctga ggagagcatt
      121 tgagcttcag atttctaaca gcctctttgc aacaaaatag accagtagct gaaggcaact
      181 gcaatccttc atgatgtttc ccttggccag aaatgcacta agcagtctca agattcaaag
      241 cattctgcaa agcatggcaa gacatagcca tgtaaaacac tcaccagatt ttcatgataa
      301 atatggtaat gctgtgctag ccagtggaac tgctttctgt gttgctacat gggtgtttac
      361 agccactcag attggaatag aatggaacct atcccctgtt ggcagagtta ccccaaaaga
      421 gtggaaacat cagtaaccat cacagttgct gtaatgacag aattgtttaa aaaaccaact
      481 tgtcatgtaa gcactctact gcttattaaa atatagcaca attgaaaaaa taaaatgtgt
      541 tttaaatctt taaaaa
//
