ID   COXM2_HUMAN             Reviewed;          79 AA.
AC   Q9NRP2; D3DUK6;
DT   24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2000, sequence version 1.
DT   03-AUG-2022, entry version 121.
DE   RecName: Full=COX assembly mitochondrial protein 2 homolog;
GN   Name=CMC2; Synonyms=C16orf61; ORFNames=DC13;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Dendritic cell;
RA   Gu Y., Peng Y., Li N., Gu W., Han Z., Fu G., Chen Z.;
RT   "Novel genes expressed in human dendritic cells.";
RL   Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15616553; DOI=10.1038/nature03187;
RA   Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA   Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA   Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA   Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA   Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA   Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA   Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA   Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA   Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA   Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA   Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA   Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA   Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA   Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA   Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA   Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA   Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA   Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA   Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA   DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA   Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA   Myers R.M., Rubin E.M., Pennacchio L.A.;
RT   "The sequence and analysis of duplication-rich human chromosome 16.";
RL   Nature 432:988-994(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Mammary gland;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   SUBCELLULAR LOCATION.
RX   PubMed=20220131; DOI=10.1074/jbc.m110.104786;
RA   Horn D., Zhou W., Trevisson E., Al-Ali H., Harris T.K., Salviati L.,
RA   Barrientos A.;
RT   "The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue
RT   essential for cytochrome c oxidase biogenesis.";
RL   J. Biol. Chem. 285:15088-15099(2010).
RN   [6]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [7]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=25944712; DOI=10.1002/pmic.201400617;
RA   Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA   Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT   "N-terminome analysis of the human mitochondrial proteome.";
RL   Proteomics 15:2519-2524(2015).
CC   -!- FUNCTION: May be involved in cytochrome c oxidase biogenesis.
CC       {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q9NRP2; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-16780661, EBI-747505;
CC       Q9NRP2; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-16780661, EBI-11962928;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20220131}.
CC   -!- SIMILARITY: Belongs to the CMC family. {ECO:0000305}.
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DR   EMBL; AF201935; AAF86871.1; -; mRNA.
DR   EMBL; AC009079; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC092718; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471114; EAW95557.1; -; Genomic_DNA.
DR   EMBL; CH471114; EAW95559.1; -; Genomic_DNA.
DR   EMBL; CH471114; EAW95560.1; -; Genomic_DNA.
DR   EMBL; BC032631; AAH32631.1; -; mRNA.
DR   CCDS; CCDS10930.1; -.
DR   RefSeq; NP_064573.1; NM_020188.3.
DR   RefSeq; XP_016878956.1; XM_017023467.1.
DR   RefSeq; XP_016878957.1; XM_017023468.1.
DR   RefSeq; XP_016878958.1; XM_017023469.1.
DR   RefSeq; XP_016878959.1; XM_017023470.1.
DR   AlphaFoldDB; Q9NRP2; -.
DR   SMR; Q9NRP2; -.
DR   BioGRID; 121266; 23.
DR   IntAct; Q9NRP2; 8.
DR   STRING; 9606.ENSP00000219400; -.
DR   GlyGen; Q9NRP2; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q9NRP2; -.
DR   PhosphoSitePlus; Q9NRP2; -.
DR   BioMuta; CMC2; -.
DR   DMDM; 37999796; -.
DR   EPD; Q9NRP2; -.
DR   jPOST; Q9NRP2; -.
DR   MassIVE; Q9NRP2; -.
DR   MaxQB; Q9NRP2; -.
DR   PaxDb; Q9NRP2; -.
DR   PeptideAtlas; Q9NRP2; -.
DR   PRIDE; Q9NRP2; -.
DR   ProteomicsDB; 82399; -.
DR   TopDownProteomics; Q9NRP2; -.
DR   Antibodypedia; 1564; 75 antibodies from 18 providers.
DR   DNASU; 56942; -.
DR   Ensembl; ENST00000219400.8; ENSP00000219400.3; ENSG00000103121.9.
DR   Ensembl; ENST00000564249.5; ENSP00000456841.1; ENSG00000103121.9.
DR   Ensembl; ENST00000565650.5; ENSP00000455457.2; ENSG00000103121.9.
DR   Ensembl; ENST00000565914.5; ENSP00000455723.1; ENSG00000103121.9.
DR   GeneID; 56942; -.
DR   KEGG; hsa:56942; -.
DR   MANE-Select; ENST00000219400.8; ENSP00000219400.3; NM_020188.5; NP_064573.1.
DR   UCSC; uc002ffu.4; human.
DR   CTD; 56942; -.
DR   DisGeNET; 56942; -.
DR   GeneCards; CMC2; -.
DR   HGNC; HGNC:24447; CMC2.
DR   HPA; ENSG00000103121; Low tissue specificity.
DR   neXtProt; NX_Q9NRP2; -.
DR   OpenTargets; ENSG00000103121; -.
DR   PharmGKB; PA143485398; -.
DR   VEuPathDB; HostDB:ENSG00000103121; -.
DR   eggNOG; KOG4148; Eukaryota.
DR   GeneTree; ENSGT00390000016908; -.
DR   HOGENOM; CLU_169286_2_0_1; -.
DR   InParanoid; Q9NRP2; -.
DR   OMA; KCLRNEY; -.
DR   OrthoDB; 1546992at2759; -.
DR   PhylomeDB; Q9NRP2; -.
DR   TreeFam; TF314049; -.
DR   PathwayCommons; Q9NRP2; -.
DR   Reactome; R-HSA-1268020; Mitochondrial protein import.
DR   SignaLink; Q9NRP2; -.
DR   BioGRID-ORCS; 56942; 44 hits in 994 CRISPR screens.
DR   ChiTaRS; CMC2; human.
DR   GenomeRNAi; 56942; -.
DR   Pharos; Q9NRP2; Tbio.
DR   PRO; PR:Q9NRP2; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; Q9NRP2; protein.
DR   Bgee; ENSG00000103121; Expressed in sperm and 201 other tissues.
DR   ExpressionAtlas; Q9NRP2; baseline and differential.
DR   Genevisible; Q9NRP2; HS.
DR   GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR   InterPro; IPR013892; Cyt_c_biogenesis_Cmc1-like.
DR   PANTHER; PTHR22977; PTHR22977; 1.
DR   Pfam; PF08583; Cmc1; 1.
DR   PROSITE; PS51808; CHCH; 1.
PE   1: Evidence at protein level;
KW   Disulfide bond; Mitochondrion; Reference proteome.
FT   CHAIN           1..79
FT                   /note="COX assembly mitochondrial protein 2 homolog"
FT                   /id="PRO_0000192943"
FT   DOMAIN          11..55
FT                   /note="CHCH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT   MOTIF           14..24
FT                   /note="Cx9C motif 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT   MOTIF           37..47
FT                   /note="Cx9C motif 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT   DISULFID        14..47
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT   DISULFID        24..37
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT   VARIANT         11
FT                   /note="T -> S (in dbSNP:rs2303217)"
FT                   /id="VAR_033816"
SQ   SEQUENCE   79 AA;  9460 MW;  783381BD6DAFB7AA CRC64;
     MHPDLSPHLH TEECNVLINL LKECHKNHNI LKFFGYCNDV DRELRKCLKN EYVENRTKSR
     EHGIAMRKKL FNPPEESEK