MCMD2_MOUSE
ID MCMD2_MOUSE Reviewed; 681 AA.
AC E9Q956; D3YTV7; D6RHP3; Q8CD58;
DT 22-FEB-2012, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 74.
DE RecName: Full=Minichromosome maintenance domain-containing protein 2;
DE Short=MCM domain-containing protein 2;
GN Name=Mcmdc2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP FUNCTION, DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=27760146; DOI=10.1371/journal.pgen.1006393;
RA Finsterbusch F., Ravindranathan R., Dereli I., Stanzione M., Traenkner D.,
RA Toth A.;
RT "Alignment of homologous chromosomes and effective repair of programmed DNA
RT double-strand breaks during mouse meiosis require the minichromosome
RT maintenance domain containing 2 (MCMDC2) protein.";
RL PLoS Genet. 12:E1006393-E1006393(2016).
RN [4]
RP FUNCTION, DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=27986806; DOI=10.1534/genetics.116.196808;
RA McNairn A.J., Rinaldi V.D., Schimenti J.C.;
RT "Repair of meiotic DNA breaks and homolog pairing in mouse meiosis requires
RT a minichromosome maintenance (MCM) paralog.";
RL Genetics 205:529-537(2017).
CC -!- FUNCTION: Plays an important role in meiotic recombination and
CC associated DNA double-strand break repair.
CC {ECO:0000269|PubMed:27760146, ECO:0000269|PubMed:27986806}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=E9Q956-1; Sequence=Displayed;
CC Name=2;
CC IsoId=E9Q956-2; Sequence=VSP_042394, VSP_042395, VSP_042396;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in the gonads and the
CC brain. Not detected in the heart, lung, nor embryonic fibroblasts.
CC {ECO:0000269|PubMed:27760146, ECO:0000269|PubMed:27986806}.
CC -!- DISRUPTION PHENOTYPE: Mutant mice are viable and show no overt
CC phenotype. However, both males and females are sterile. Males fail to
CC produce spermatozoa, and formation of primordial follicles is disrupted
CC in females. {ECO:0000269|PubMed:27760146, ECO:0000269|PubMed:27986806}.
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DR EMBL; AK031395; BAC27383.1; -; mRNA.
DR EMBL; AC102570; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS48215.1; -. [E9Q956-1]
DR RefSeq; NP_808390.2; NM_177722.3. [E9Q956-1]
DR RefSeq; XP_011236678.1; XM_011238376.1. [E9Q956-1]
DR AlphaFoldDB; E9Q956; -.
DR SMR; E9Q956; -.
DR STRING; 10090.ENSMUSP00000120577; -.
DR PhosphoSitePlus; E9Q956; -.
DR PaxDb; E9Q956; -.
DR PRIDE; E9Q956; -.
DR ProteomicsDB; 292280; -. [E9Q956-1]
DR ProteomicsDB; 292281; -. [E9Q956-2]
DR Antibodypedia; 24923; 81 antibodies from 16 providers.
DR Ensembl; ENSMUST00000052843; ENSMUSP00000054715; ENSMUSG00000046101. [E9Q956-2]
DR Ensembl; ENSMUST00000171802; ENSMUSP00000128620; ENSMUSG00000046101. [E9Q956-1]
DR GeneID; 240697; -.
DR KEGG; mmu:240697; -.
DR UCSC; uc007agz.1; mouse. [E9Q956-2]
DR UCSC; uc011wie.1; mouse. [E9Q956-1]
DR CTD; 157777; -.
DR MGI; MGI:3045334; Mcmdc2.
DR VEuPathDB; HostDB:ENSMUSG00000046101; -.
DR eggNOG; KOG0480; Eukaryota.
DR GeneTree; ENSGT01050000244972; -.
DR HOGENOM; CLU_032817_1_0_1; -.
DR InParanoid; E9Q956; -.
DR OrthoDB; 736394at2759; -.
DR TreeFam; TF332272; -.
DR BioGRID-ORCS; 240697; 1 hit in 71 CRISPR screens.
DR ChiTaRS; Mcmdc2; mouse.
DR PRO; PR:E9Q956; -.
DR Proteomes; UP000000589; Chromosome 1.
DR RNAct; E9Q956; protein.
DR Bgee; ENSMUSG00000046101; Expressed in spermatocyte and 57 other tissues.
DR ExpressionAtlas; E9Q956; baseline and differential.
DR GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR GO; GO:0003677; F:DNA binding; IEA:InterPro.
DR GO; GO:0032508; P:DNA duplex unwinding; IEA:InterPro.
DR GO; GO:1990918; P:double-strand break repair involved in meiotic recombination; IMP:MGI.
DR GO; GO:0000727; P:double-strand break repair via break-induced replication; IBA:GO_Central.
DR GO; GO:0042140; P:late meiotic recombination nodule assembly; IMP:MGI.
DR GO; GO:0007146; P:meiotic recombination nodule assembly; IMP:MGI.
DR GO; GO:0048477; P:oogenesis; IMP:MGI.
DR GO; GO:0007283; P:spermatogenesis; IMP:MGI.
DR GO; GO:0007130; P:synaptonemal complex assembly; IMP:MGI.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR031327; MCM.
DR InterPro; IPR041562; MCM_lid.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR11630; PTHR11630; 1.
DR Pfam; PF17855; MCM_lid; 1.
DR SMART; SM00350; MCM; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA damage; DNA repair; Meiosis; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..681
FT /note="Minichromosome maintenance domain-containing protein
FT 2"
FT /id="PRO_0000415824"
FT DOMAIN 533..621
FT /note="MCM"
FT MOD_RES 292
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q4G0Z9"
FT VAR_SEQ 76..89
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_042394"
FT VAR_SEQ 359..361
FT /note="LLN -> VSL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_042395"
FT VAR_SEQ 362..681
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_042396"
SQ SEQUENCE 681 AA; 76015 MW; 99FE4B7375C730E9 CRC64;
METLQMKEAA LVYLDRSGGL QKFIDDCKSY NDSKQSYAVY RFSILIDPCD VVELDADLGN
HILHHPLKAA RVFQSVCFVA VKTLSLIGQL QTETQINIVL KLTHLPALPS YTLDLCEFPL
NYASQRFYMM QGIVIAMTTI TKYTQGARFL CSDGVCPLSK GFQYVRVHVP GATESATVRN
DFLCSLCSSS LQEDRKFRVL GDKQIVEIIT TKMFHAFQGD SKNQPFRFQS LGIFLRDELV
NKMKIGNEYK IIGIPVCVKT SQTALCVEAN NITPHTAKVP LGISDNFRRL LSLTSSSCWK
FTAMLANVFA SQIVAPGTYN LLKLCLLMSL VQTRDCNRER EDCLDILVIT SDTLLVDRLL
NFSMNLVSRG IRHPVCTEVF PTVSRNKYGT GAVSIQAGSA LLAKGGICFI GDLTSHKKDK
LEQLQSALES RSVTVFIPGK KFGDDFDQQM TFPIQCSFWS FVDMDSSSRR NVQKTSTLIG
QMDCSLIPAN LAEAFGLLIN CSEASPCHPL LPTVQHTLKK AVEPEGLLYL ASKQFTTEDF
EKLLAFAKSL NMEFSLEAER MIHGYYLASR RIRTDSIHGS KLSASALKYL VSLSEAHARL
SLRTTVLRED ALIAALLLEI SLTLRYGATP FCVAPNALFP FELYNEEYLE QRDLYLTQCQ
QQLQQFIATC GPGTTVFSSD E
