{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8N8R5","secondaryAccessions":["Q8NE30"],"uniProtkbId":"CB069_HUMAN","entryAudit":{"firstPublicDate":"2008-04-08","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2002-10-01","entryVersion":132,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Mitochondrial protein C2orf69"}},"flag":"Precursor"},"genes":[{"geneName":{"value":"C2orf69"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33945503"}],"value":"May play a role in the respiratory chain"}],"commentType":"FUNCTION"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33945503"}],"value":"Mitochondrion matrix","id":"SL-0170"}}]},{"commentType":"DISEASE","disease":{"diseaseId":"Combined oxidative phosphorylation deficiency 53","diseaseAccession":"DI-06163","acronym":"COXPD53","description":"An autosomal recessive mitochondrial disorder characterized by global developmental delay, hypomyelination, cerebral atrophy, microcephaly, liver dysfunction, and recurrent autoinflammation.","diseaseCrossReference":{"database":"MIM","id":"619423"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33945503"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the C2orf69 family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous gene model prediction","sequence":"EAW70190.1","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Transit peptide","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":24,"modifier":"EXACT"}},"description":"Mitochondrion","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Chain","location":{"start":{"value":25,"modifier":"EXACT"},"end":{"value":385,"modifier":"EXACT"}},"description":"Mitochondrial protein C2orf69","featureId":"PRO_0000329088"},{"type":"Mutagenesis","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":24,"modifier":"EXACT"}},"description":"Abolishes mitochondrial localization.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33945503"}],"alternativeSequence":{}}],"keywords":[{"id":"KW-0249","category":"Biological process","name":"Electron transport"},{"id":"KW-0496","category":"Cellular component","name":"Mitochondrion"},{"id":"KW-1274","category":"Disease","name":"Primary mitochondrial disease"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0679","category":"Biological process","name":"Respiratory chain"},{"id":"KW-0809","category":"Domain","name":"Transit peptide"},{"id":"KW-0813","category":"Biological process","name":"Transport"}],"references":[{"referenceNumber":1,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"]},{"referenceNumber":2,"citation":{"id":"15815621","citationType":"journal article","authors":["Hillier L.W.","Graves T.A.","Fulton R.S.","Fulton L.A.","Pepin K.H.","Minx P.","Wagner-McPherson C.","Layman D.","Wylie K.","Sekhon M.","Becker M.C.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Kremitzki C.","Oddy L.","Du H.","Sun H.","Bradshaw-Cordum H.","Ali J.","Carter J.","Cordes M.","Harris A.","Isak A.","van Brunt A.","Nguyen C.","Du F.","Courtney L.","Kalicki J.","Ozersky P.","Abbott S.","Armstrong J.","Belter E.A.","Caruso L.","Cedroni M.","Cotton M.","Davidson T.","Desai A.","Elliott G.","Erb T.","Fronick C.","Gaige T.","Haakenson W.","Haglund K.","Holmes A.","Harkins R.","Kim K.","Kruchowski S.S.","Strong C.M.","Grewal N.","Goyea E.","Hou S.","Levy A.","Martinka S.","Mead K.","McLellan M.D.","Meyer R.","Randall-Maher J.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Shah N.","Swearengen-Shahid S.","Snider J.","Strong J.T.","Thompson J.","Yoakum M.","Leonard S.","Pearman C.","Trani L.","Radionenko M.","Waligorski J.E.","Wang C.","Rock S.M.","Tin-Wollam A.-M.","Maupin R.","Latreille P.","Wendl M.C.","Yang S.-P.","Pohl C.","Wallis J.W.","Spieth J.","Bieri T.A.","Berkowicz N.","Nelson J.O.","Osborne J.","Ding L.","Meyer R.","Sabo A.","Shotland Y.","Sinha P.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Jones T.A.","She X.","Ciccarelli F.D.","Izaurralde E.","Taylor J.","Schmutz J.","Myers R.M.","Cox D.R.","Huang X.","McPherson J.D.","Mardis E.R.","Clifton S.W.","Warren W.C.","Chinwalla A.T.","Eddy S.R.","Marra M.A.","Ovcharenko I.","Furey T.S.","Miller W.","Eichler E.E.","Bork P.","Suyama M.","Torrents D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"15815621"},{"database":"DOI","id":"10.1038/nature03466"}],"title":"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.","publicationDate":"2005","journal":"Nature","firstPage":"724","lastPage":"731","volume":"434"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"citation":{"id":"CI-5GBDQ6B103N1E","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]"],"referenceComments":[{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Buerckstuemmer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":6,"citation":{"id":"33945503","citationType":"journal article","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.","Haeusler M.","Tenbrock K.","van den Heuvel L.","Elbracht M.","Kurth I.","Kraft F."],"citationCrossReferences":[{"database":"PubMed","id":"33945503"},{"database":"DOI","id":"10.1172/jci143078"}],"title":"C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.","publicationDate":"2021","journal":"J. Clin. Invest.","firstPage":"143078","lastPage":"143078","volume":"131"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","INVOLVEMENT IN COXPD53","MUTAGENESIS OF 1-MET--ALA-24"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AK096292","properties":[{"key":"ProteinId","value":"BAC04749.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC097717","properties":[{"key":"ProteinId","value":"AAY24161.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"CH471063","properties":[{"key":"ProteinId","value":"EAW70190.1"},{"key":"Status","value":"ALT_SEQ"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC036456","properties":[{"key":"ProteinId","value":"AAH36456.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS46482.1","properties":[{"key":"Description","value":"-"}]},{"database":"RefSeq","id":"NP_710156.3","properties":[{"key":"NucleotideSequenceId","value":"NM_153689.6"}]},{"database":"AlphaFoldDB","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"128495","properties":[{"key":"Interactions","value":"9"}]},{"database":"FunCoup","id":"Q8N8R5","properties":[{"key":"Number of interactors","value":"1898"}]},{"database":"IntAct","id":"Q8N8R5","properties":[{"key":"Interactions","value":"8"}]},{"database":"STRING","id":"9606.ENSP00000312770","properties":[{"key":"Description","value":"-"}]},{"database":"GlyGen","id":"Q8N8R5","properties":[{"key":"glycosylation","value":"1 site, 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"C2orf69","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"74729509","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000312770","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"72455","properties":[{"key":"Description","value":"-"}]},{"database":"Pumba","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"50407","properties":[{"key":"antibodies","value":"40 antibodies from 12 providers"}]},{"database":"DNASU","id":"205327","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000319974.6","properties":[{"key":"ProteinId","value":"ENSP00000312770.5"},{"key":"GeneId","value":"ENSG00000178074.6"}]},{"database":"GeneID","id":"205327","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:205327","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000319974.6","properties":[{"key":"ProteinId","value":"ENSP00000312770.5"},{"key":"RefSeqNucleotideId","value":"NM_153689.6"},{"key":"RefSeqProteinId","value":"NP_710156.3"}]},{"database":"UCSC","id":"uc010zhb.2","properties":[{"key":"OrganismName","value":"human"}]},{"database":"AGR","id":"HGNC:26799","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA162379487","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"205327","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"205327","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"C2orf69","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:26799","properties":[{"key":"GeneName","value":"C2orf69"}]},{"database":"HPA","id":"ENSG00000178074","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"C2orf69","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"619219","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"619423","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000178074","properties":[{"key":"Description","value":"-"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000178074","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG2800","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000005550","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_028841_1_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"DIMSCHP","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"419333at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q8N8R5","properties":[{"key":"Number of GO annotations","value":"1 GO annotation based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000178074","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"205327","properties":[{"key":"hits","value":"22 hits in 1153 CRISPR screens"}]},{"database":"ChiTaRS","id":"C2orf69","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"205327","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q8N8R5","properties":[{"key":"DevelopmentLevel","value":"Tdark"}]},{"database":"PRO","id":"PR:Q8N8R5","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 2"}]},{"database":"RNAct","id":"Q8N8R5","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000178074","properties":[{"key":"ExpressionPatterns","value":"Expressed in sperm and 195 other cell types or tissues"}]},{"database":"GO","id":"GO:0005759","properties":[{"key":"GoTerm","value":"C:mitochondrial matrix"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33945503"}]},{"database":"GO","id":"GO:0005739","properties":[{"key":"GoTerm","value":"C:mitochondrion"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"33945503"}]},{"database":"GO","id":"GO:0006119","properties":[{"key":"GoTerm","value":"P:oxidative phosphorylation"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"33945503"}]},{"database":"InterPro","id":"IPR018881","properties":[{"key":"EntryName","value":"C2orf69_mit"}]},{"database":"PANTHER","id":"PTHR31296:SF1","properties":[{"key":"EntryName","value":"MITOCHONDRIAL PROTEIN C2ORF69"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR31296","properties":[{"key":"EntryName","value":"UPF0565 PROTEIN C2ORF69"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF10561","properties":[{"key":"EntryName","value":"C2orf69"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MWGFRLLRSPPLLLLLPQLGIGNASSCSQARTMNPGGSGGARCSLSAEVRRRQCLQLSTVPGADPQRSNELLLLAAAGEGLERQDLPGDPAKEEPQPPPQHHVLYFPGDVQNYHEIMTRHPENYQWENWSLENVATILAHRFPNSYIWVIKCSRMHLHKFSCYDNFVKSNMFGAPEHNTDFGAFKHLYMLLVNAFNLSQNSLSKKSLNVWNKDSIASNCRSSPSHTTNGCQGEKVRTCEKSDESAMSFYPPSLNDASFTLIGFSKGCVVLNQLLFELKEAKKDKNIDAFIKSIRTMYWLDGGHSGGSNTWVTYPEVLKEFAQTGIIVHTHVTPYQVRDPMRSWIGKEHKKFVQILGDLGMQVTSQIHFTKEAPSIENHFRVHEVF","length":385,"molWeight":43448,"crc64":"0C6E9542FC6BEDA5","md5":"9E1B7EC1B18132A1D0073F3FD52071F1"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBCELLULAR LOCATION":1,"DISEASE":1,"SIMILARITY":1,"SEQUENCE CAUTION":1},"countByFeatureType":{"Transit peptide":1,"Chain":1,"Mutagenesis":1},"uniParcId":"UPI0000073170"}}