MIGA2_HUMAN
ID MIGA2_HUMAN Reviewed; 593 AA.
AC Q7L4E1; Q8NBM3; Q8TEJ6; Q969E6;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Mitoguardin 2 {ECO:0000303|PubMed:26711011};
DE AltName: Full=Protein FAM73B {ECO:0000305};
GN Name=MIGA2 {ECO:0000303|PubMed:26711011, ECO:0000312|HGNC:HGNC:23621};
GN Synonyms=C9orf54 {ECO:0000312|HGNC:HGNC:23621},
GN FAM73B {ECO:0000312|HGNC:HGNC:23621};
GN ORFNames=PSEC0112 {ECO:0000303|PubMed:12693554};
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] (ISOFORM 2).
RC TISSUE=Spleen;
RX PubMed=12693554; DOI=10.1093/dnares/10.1.49;
RA Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N.,
RA Ohara O.;
RT "Characterization of long cDNA clones from human adult spleen. II. The
RT complete sequences of 81 cDNA clones.";
RL DNA Res. 10:49-57(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 308-593 (ISOFORM 1).
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-224; THR-273 AND SER-276, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, AND INTERACTION WITH MIGA1 AND
RP PLD6.
RX PubMed=26711011; DOI=10.1016/j.molcel.2015.11.017;
RA Zhang Y., Liu X., Bai J., Tian X., Zhao X., Liu W., Duan X., Shang W.,
RA Fan H.Y., Tong C.;
RT "Mitoguardin regulates mitochondrial fusion through MitoPLD and is required
RT for neuronal homeostasis.";
RL Mol. Cell 61:111-124(2016).
CC -!- FUNCTION: Regulator of mitochondrial fusion: acts by forming homo- and
CC heterodimers at the mitochondrial outer membrane and facilitating the
CC formation of PLD6/MitoPLD dimers. May act by regulating phospholipid
CC metabolism via PLD6/MitoPLD. {ECO:0000269|PubMed:26711011}.
CC -!- SUBUNIT: Homodimer and heterodimer; forms heterodimers with MIGA1
CC (PubMed:26711011). Interacts with PLD6/MitoPLD (PubMed:26711011).
CC {ECO:0000269|PubMed:26711011}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane
CC {ECO:0000269|PubMed:26711011}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q7L4E1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7L4E1-2; Sequence=VSP_030087, VSP_030088;
CC Name=3;
CC IsoId=Q7L4E1-3; Sequence=VSP_030089, VSP_030090;
CC -!- SIMILARITY: Belongs to the mitoguardin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB55159.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB84953.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=EAW87861.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK074127; BAB84953.1; ALT_INIT; mRNA.
DR EMBL; AK075421; BAC11611.1; -; mRNA.
DR EMBL; AL592211; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW87861.1; ALT_INIT; Genomic_DNA.
DR EMBL; CH471090; EAW87862.1; -; Genomic_DNA.
DR EMBL; CH471090; EAW87864.1; -; Genomic_DNA.
DR EMBL; BC009114; AAH09114.2; -; mRNA.
DR EMBL; AK027502; BAB55159.1; ALT_INIT; mRNA.
DR CCDS; CCDS6917.1; -. [Q7L4E1-1]
DR RefSeq; NP_001316919.1; NM_001329990.1. [Q7L4E1-1]
DR RefSeq; NP_116198.3; NM_032809.3.
DR AlphaFoldDB; Q7L4E1; -.
DR BioGRID; 124335; 22.
DR IntAct; Q7L4E1; 10.
DR STRING; 9606.ENSP00000351138; -.
DR TCDB; 1.R.1.1.1; the membrane contact site (mcs) family.
DR iPTMnet; Q7L4E1; -.
DR PhosphoSitePlus; Q7L4E1; -.
DR BioMuta; MIGA2; -.
DR DMDM; 74749888; -.
DR EPD; Q7L4E1; -.
DR jPOST; Q7L4E1; -.
DR MassIVE; Q7L4E1; -.
DR MaxQB; Q7L4E1; -.
DR PaxDb; Q7L4E1; -.
DR PeptideAtlas; Q7L4E1; -.
DR PRIDE; Q7L4E1; -.
DR ProteomicsDB; 68774; -. [Q7L4E1-1]
DR ProteomicsDB; 68775; -. [Q7L4E1-2]
DR ProteomicsDB; 68776; -. [Q7L4E1-3]
DR Antibodypedia; 50430; 22 antibodies from 10 providers.
DR DNASU; 84895; -.
DR Ensembl; ENST00000358369.8; ENSP00000351138.4; ENSG00000148343.19. [Q7L4E1-1]
DR Ensembl; ENST00000439290.5; ENSP00000391603.1; ENSG00000148343.19. [Q7L4E1-2]
DR Ensembl; ENST00000445183.5; ENSP00000396618.1; ENSG00000148343.19. [Q7L4E1-3]
DR Ensembl; ENST00000684074.1; ENSP00000506871.1; ENSG00000148343.19. [Q7L4E1-1]
DR GeneID; 84895; -.
DR KEGG; hsa:84895; -.
DR MANE-Select; ENST00000684074.1; ENSP00000506871.1; NM_001329990.2; NP_001316919.1.
DR UCSC; uc004bxa.4; human. [Q7L4E1-1]
DR CTD; 84895; -.
DR DisGeNET; 84895; -.
DR GeneCards; MIGA2; -.
DR HGNC; HGNC:23621; MIGA2.
DR HPA; ENSG00000148343; Low tissue specificity.
DR MIM; 616774; gene.
DR neXtProt; NX_Q7L4E1; -.
DR OpenTargets; ENSG00000148343; -.
DR PharmGKB; PA134896424; -.
DR VEuPathDB; HostDB:ENSG00000148343; -.
DR eggNOG; KOG3831; Eukaryota.
DR GeneTree; ENSGT00390000008565; -.
DR HOGENOM; CLU_860408_0_0_1; -.
DR InParanoid; Q7L4E1; -.
DR OMA; YDICLDF; -.
DR OrthoDB; 341855at2759; -.
DR PhylomeDB; Q7L4E1; -.
DR TreeFam; TF313896; -.
DR PathwayCommons; Q7L4E1; -.
DR Reactome; R-HSA-1483166; Synthesis of PA.
DR SignaLink; Q7L4E1; -.
DR BioGRID-ORCS; 84895; 35 hits in 1080 CRISPR screens.
DR ChiTaRS; MIGA2; human.
DR GeneWiki; FAM73B; -.
DR GenomeRNAi; 84895; -.
DR Pharos; Q7L4E1; Tbio.
DR PRO; PR:Q7L4E1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q7L4E1; protein.
DR Bgee; ENSG00000148343; Expressed in pancreatic ductal cell and 160 other tissues.
DR ExpressionAtlas; Q7L4E1; baseline and differential.
DR Genevisible; Q7L4E1; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0005741; C:mitochondrial outer membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0046982; F:protein heterodimerization activity; IDA:UniProtKB.
DR GO; GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
DR GO; GO:0060348; P:bone development; IEA:Ensembl.
DR GO; GO:0008053; P:mitochondrial fusion; IDA:UniProtKB.
DR InterPro; IPR019392; Miga.
DR PANTHER; PTHR21508; PTHR21508; 1.
DR Pfam; PF10265; Miga; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..593
FT /note="Mitoguardin 2"
FT /id="PRO_0000313657"
FT TRANSMEM 11..31
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 42..62
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 103..141
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 196..231
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 104..141
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 132
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BK03"
FT MOD_RES 206
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q8BK03"
FT MOD_RES 220
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BK03"
FT MOD_RES 224
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 228
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BK03"
FT MOD_RES 273
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 276
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163"
FT VAR_SEQ 226..323
FT /note="PESQRKEFAEKLESLLHRAYHLQEEFGSTFPADSMLLDLERTLMLPLTEGSL
FT RLRADDEDSLTSEDSFFSATELFESLQTGDYPIPLSRPAAAYEEAL -> TESHSVARL
FT ECSGAISAQCNLRFLGSRDSPASASQVAGITARVTAEGVCREAGVPAAPCLPPAGGVRL
FT HLPRRQHAARPREDPHAAPDRGLAAAAGGR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_030087"
FT VAR_SEQ 324..593
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_030088"
FT VAR_SEQ 338..349
FT /note="TELLGCYSDQDF -> APKASWRATRRC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16303743"
FT /id="VSP_030089"
FT VAR_SEQ 350..593
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16303743"
FT /id="VSP_030090"
FT VARIANT 78
FT /note="E -> K (in dbSNP:rs6478859)"
FT /id="VAR_037690"
FT VARIANT 100
FT /note="V -> A (in dbSNP:rs11544968)"
FT /id="VAR_037691"
FT VARIANT 212
FT /note="G -> S (in dbSNP:rs17452596)"
FT /id="VAR_037692"
FT CONFLICT 62
FT /note="A -> G (in Ref. 1; BAB84953)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 593 AA; 65531 MW; 128969424149397F CRC64;
MAFRRAEGTS MIQALAMTVA EIPVFLYTTF GQSAFSQLRL TPGLRKVLFA TALGTVALAL
AAHQLKRRRR RKKQVGPEMG GEQLGTVPLP ILLARKVPSV KKGYSSRRVQ SPSSKSNDTL
SGISSIEPSK HSGSSHSVAS MMAVNSSSPT AACSGLWDAR GMEESLTTSD GNAESLYMQG
MELFEEALQK WEQALSVGQR GDSGSTPMPR DGLRNPETAS EPLSEPESQR KEFAEKLESL
LHRAYHLQEE FGSTFPADSM LLDLERTLML PLTEGSLRLR ADDEDSLTSE DSFFSATELF
ESLQTGDYPI PLSRPAAAYE EALQLVKEGR VPCRTLRTEL LGCYSDQDFL AKLHCVRQAF
EGLLEDKSNQ LFFGKVGRQM VTGLMTKAEK SPKGFLESYE EMLSYALRPE TWATTRLELE
GRGVVCMSFF DIVLDFILMD AFEDLENPPA SVLAVLRNRW LSDSFKETAL ATACWSVLKA
KRRLLMVPDG FISHFYSVSE HVSPVLAFGF LGPKPQLAEV CAFFKHQIVQ YLRDMFDLDN
VRYTSLPALA DDILQLSRRR SEILLGYLGV PAASSAGVNG ALPRENGPLG ELQ
