MTEF2_HUMAN
ID MTEF2_HUMAN Reviewed; 385 AA.
AC Q49AM1; Q53HM2; Q9H4L6; Q9H7Y9;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Transcription termination factor 2, mitochondrial;
DE AltName: Full=Mitochondrial transcription termination factor 2;
DE Short=mTERF2;
DE AltName: Full=Mitochondrial transcription termination factor-like protein;
DE Short=mTERF-like;
DE Short=mTERFL {ECO:0000303|PubMed:16226716};
DE AltName: Full=mTERF domain-containing protein 3, mitochondrial;
DE Flags: Precursor;
GN Name=MTERF2; Synonyms=MTERFD3;
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 [MRNA], FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=16226716; DOI=10.1016/j.bbrc.2005.09.164;
RA Chen Y., Zhou G., Yu M., He Y., Tang W., Lai J., He J., Liu W., Tan D.;
RT "Cloning and functional analysis of human mTERFL encoding a novel
RT mitochondrial transcription termination factor-like protein.";
RL Biochem. Biophys. Res. Commun. 337:1112-1118(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Adipose tissue;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lymph node;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow, and Brain;
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 [7]
RP PARTIAL PROTEIN SEQUENCE, FUNCTION, SUBUNIT, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RX PubMed=19366608; DOI=10.1016/j.bbabio.2009.01.018;
RA Pellegrini M., Asin-Cayuela J., Erdjument-Bromage H., Tempst P.,
RA Larsson N.G., Gustafsson C.M.;
RT "MTERF2 is a nucleoid component in mammalian mitochondria.";
RL Biochim. Biophys. Acta 1787:296-302(2009).
RN [8]
RP FUNCTION.
RX PubMed=21558281; DOI=10.1093/abbs/gmr035;
RA Huang W., Yu M., Jiao Y., Ma J., Ma M., Wang Z., Wu H., Tan D.;
RT "Mitochondrial transcription termination factor 2 binds to entire
RT mitochondrial DNA and negatively regulates mitochondrial gene expression.";
RL Acta Biochim. Biophys. Sin. 43:472-479(2011).
CC -!- FUNCTION: Binds mitochondrial DNA and plays a role in the regulation of
CC transcription of mitochondrial mRNA and rRNA species.
CC {ECO:0000269|PubMed:16226716, ECO:0000269|PubMed:19366608,
CC ECO:0000269|PubMed:21558281}.
CC -!- SUBUNIT: Monomer. {ECO:0000269|PubMed:19366608}.
CC -!- INTERACTION:
CC Q49AM1; P05090: APOD; NbExp=3; IntAct=EBI-17857560, EBI-715495;
CC Q49AM1; Q9NTJ5: SACM1L; NbExp=3; IntAct=EBI-17857560, EBI-3917235;
CC Q49AM1; O43752: STX6; NbExp=3; IntAct=EBI-17857560, EBI-2695795;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16226716}.
CC Mitochondrion matrix, mitochondrion nucleoid
CC {ECO:0000250|UniProtKB:Q8BKY8}.
CC -!- TISSUE SPECIFICITY: Expressed in skeletal muscle, heart, liver and
CC pancreas. {ECO:0000269|PubMed:16226716}.
CC -!- SIMILARITY: Belongs to the mTERF family. {ECO:0000305}.
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DR EMBL; AY008301; AAG22860.1; -; mRNA.
DR EMBL; AK024124; BAB14834.1; -; mRNA.
DR EMBL; AK222558; BAD96278.1; -; mRNA.
DR EMBL; AL832827; CAI46173.1; -; mRNA.
DR EMBL; AC007541; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC025984; AAH25984.1; -; mRNA.
DR EMBL; BC036066; AAH36066.1; -; mRNA.
DR CCDS; CCDS9111.1; -.
DR RefSeq; NP_001028222.1; NM_001033050.2.
DR RefSeq; NP_079474.2; NM_025198.4.
DR RefSeq; XP_011537069.1; XM_011538767.2.
DR RefSeq; XP_016875474.1; XM_017019985.1.
DR RefSeq; XP_016875475.1; XM_017019986.1.
DR RefSeq; XP_016875476.1; XM_017019987.1.
DR AlphaFoldDB; Q49AM1; -.
DR SMR; Q49AM1; -.
DR BioGRID; 123214; 9.
DR IntAct; Q49AM1; 7.
DR STRING; 9606.ENSP00000447651; -.
DR iPTMnet; Q49AM1; -.
DR PhosphoSitePlus; Q49AM1; -.
DR BioMuta; MTERF2; -.
DR DMDM; 118595440; -.
DR EPD; Q49AM1; -.
DR jPOST; Q49AM1; -.
DR MassIVE; Q49AM1; -.
DR MaxQB; Q49AM1; -.
DR PaxDb; Q49AM1; -.
DR PeptideAtlas; Q49AM1; -.
DR PRIDE; Q49AM1; -.
DR ProteomicsDB; 62055; -.
DR Antibodypedia; 1265; 78 antibodies from 20 providers.
DR DNASU; 80298; -.
DR Ensembl; ENST00000240050.9; ENSP00000240050.4; ENSG00000120832.10.
DR Ensembl; ENST00000392830.6; ENSP00000376575.2; ENSG00000120832.10.
DR Ensembl; ENST00000552029.1; ENSP00000447651.1; ENSG00000120832.10.
DR GeneID; 80298; -.
DR KEGG; hsa:80298; -.
DR MANE-Select; ENST00000240050.9; ENSP00000240050.4; NM_001033050.3; NP_001028222.1.
DR UCSC; uc001tme.2; human.
DR CTD; 80298; -.
DR DisGeNET; 80298; -.
DR GeneCards; MTERF2; -.
DR HGNC; HGNC:30779; MTERF2.
DR HPA; ENSG00000120832; Low tissue specificity.
DR MIM; 616929; gene.
DR neXtProt; NX_Q49AM1; -.
DR OpenTargets; ENSG00000120832; -.
DR PharmGKB; PA142671311; -.
DR VEuPathDB; HostDB:ENSG00000120832; -.
DR eggNOG; KOG1267; Eukaryota.
DR GeneTree; ENSGT00530000063817; -.
DR HOGENOM; CLU_058644_0_0_1; -.
DR InParanoid; Q49AM1; -.
DR OMA; LWMSVCP; -.
DR OrthoDB; 1103140at2759; -.
DR PhylomeDB; Q49AM1; -.
DR TreeFam; TF330821; -.
DR PathwayCommons; Q49AM1; -.
DR SignaLink; Q49AM1; -.
DR BioGRID-ORCS; 80298; 13 hits in 1075 CRISPR screens.
DR GenomeRNAi; 80298; -.
DR Pharos; Q49AM1; Tbio.
DR PRO; PR:Q49AM1; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q49AM1; protein.
DR Bgee; ENSG00000120832; Expressed in left ventricle myocardium and 185 other tissues.
DR ExpressionAtlas; Q49AM1; baseline and differential.
DR Genevisible; Q49AM1; HS.
DR GO; GO:0005759; C:mitochondrial matrix; IBA:GO_Central.
DR GO; GO:0042645; C:mitochondrial nucleoid; ISS:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0003690; F:double-stranded DNA binding; IEA:InterPro.
DR GO; GO:0003676; F:nucleic acid binding; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:InterPro.
DR GO; GO:0006393; P:termination of mitochondrial transcription; IBA:GO_Central.
DR Gene3D; 1.25.70.10; -; 1.
DR InterPro; IPR003690; MTERF.
DR InterPro; IPR038538; MTERF_sf.
DR PANTHER; PTHR15437; PTHR15437; 1.
DR Pfam; PF02536; mTERF; 1.
DR SMART; SM00733; Mterf; 4.
PE 1: Evidence at protein level;
KW Direct protein sequencing; Mitochondrion; Mitochondrion nucleoid;
KW Reference proteome; Transcription; Transcription regulation;
KW Transit peptide.
FT TRANSIT 1..35
FT /note="Mitochondrion"
FT /evidence="ECO:0000269|PubMed:19366608"
FT CHAIN 36..385
FT /note="Transcription termination factor 2, mitochondrial"
FT /id="PRO_0000255464"
FT VARIANT 14
FT /note="L -> V (in dbSNP:rs34238336)"
FT /id="VAR_034113"
FT VARIANT 31
FT /note="A -> V (in dbSNP:rs35305400)"
FT /id="VAR_053787"
FT VARIANT 81
FT /note="A -> G (in dbSNP:rs35548605)"
FT /id="VAR_034114"
FT VARIANT 198
FT /note="V -> I (in dbSNP:rs1043157)"
FT /id="VAR_053788"
FT CONFLICT 140
FT /note="F -> S (in Ref. 3; BAD96278)"
FT /evidence="ECO:0000305"
FT CONFLICT 171
FT /note="T -> A (in Ref. 5; AAH36066)"
FT /evidence="ECO:0000305"
FT CONFLICT 236
FT /note="E -> G (in Ref. 2; BAB14834)"
FT /evidence="ECO:0000305"
FT CONFLICT 383
FT /note="V -> A (in Ref. 3; BAD96278)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 385 AA; 44414 MW; FF6D948759681BBE CRC64;
MLWKLLLRSQ SCRLCSFRKM RSPPKYRPFL ACFTYTTDKQ SSKENTRTVE KLYKCSVDIR
KIRRLKGWVL LEDETYVEEI ANILQELGAD ETAVASILER CPEAIVCSPT AVNTQRKLWQ
LVCKNEEELI KLIEQFPESF FTIKDQENQK LNVQFFQELG LKNVVISRLL TAAPNVFHNP
VEKNKQMVRI LQESYLDVGG SEANMKVWLL KLLSQNPFIL LNSPTAIKET LEFLQEQGFT
SFEILQLLSK LKGFLFQLCP RSIQNSISFS KNAFKCTDHD LKQLVLKCPA LLYYSVPVLE
ERMQGLLREG ISIAQIRETP MVLELTPQIV QYRIRKLNSS GYRIKDGHLA NLNGSKKEFE
ANFGKIQAKK VRPLFNPVAP LNVEE
