ID   MCMD2_HUMAN             Reviewed;         681 AA.
AC   Q4G0Z9; B4DYZ3; B4DZM4; B4E293; Q6P533; Q7Z3P4;
DT   31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   20-APR-2010, sequence version 3.
DT   24-JAN-2024, entry version 132.
DE   RecName: Full=Minichromosome maintenance domain-containing protein 2;
DE            Short=MCM domain-containing protein 2;
GN   Name=MCMDC2; Synonyms=C8orf45;
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] (ISOFORMS 1; 3 AND 4).
RC   TISSUE=Testis, and Trachea;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16421571; DOI=10.1038/nature04406;
RA   Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA   Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA   Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA   Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA   Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA   Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA   Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA   Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA   Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA   O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA   Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA   Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA   Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA   Platzer M., Shimizu N., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Lung, and Testis;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-357.
RC   TISSUE=Rectum tumor;
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   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-292, 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).
CC   -!- FUNCTION: Plays an important role in meiotic recombination and
CC       associated DNA double-strand break repair.
CC       {ECO:0000250|UniProtKB:E9Q956}.
CC   -!- INTERACTION:
CC       Q4G0Z9; Q9BS40: LXN; NbExp=3; IntAct=EBI-14506480, EBI-1044504;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q4G0Z9-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q4G0Z9-2; Sequence=VSP_039001;
CC       Name=3;
CC         IsoId=Q4G0Z9-3; Sequence=VSP_038998;
CC       Name=4;
CC         IsoId=Q4G0Z9-4; Sequence=VSP_038999, VSP_039000;
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH34576.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAH63108.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AK302672; BAG63905.1; -; mRNA.
DR   EMBL; AK303003; BAG64136.1; -; mRNA.
DR   EMBL; AK304170; BAG65055.1; -; mRNA.
DR   EMBL; AC011031; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC034576; AAH34576.2; ALT_INIT; mRNA.
DR   EMBL; BC063108; AAH63108.1; ALT_INIT; mRNA.
DR   EMBL; BX537587; CAD97790.2; -; mRNA.
DR   CCDS; CCDS47869.1; -. [Q4G0Z9-2]
DR   CCDS; CCDS6197.2; -. [Q4G0Z9-1]
DR   RefSeq; NP_001129633.1; NM_001136161.1. [Q4G0Z9-2]
DR   RefSeq; NP_775789.3; NM_173518.4. [Q4G0Z9-1]
DR   RefSeq; XP_005251231.1; XM_005251174.2. [Q4G0Z9-4]
DR   RefSeq; XP_006716496.1; XM_006716433.3.
DR   AlphaFoldDB; Q4G0Z9; -.
DR   SMR; Q4G0Z9; -.
DR   BioGRID; 127624; 2.
DR   IntAct; Q4G0Z9; 1.
DR   STRING; 9606.ENSP00000413632; -.
DR   iPTMnet; Q4G0Z9; -.
DR   PhosphoSitePlus; Q4G0Z9; -.
DR   BioMuta; MCMDC2; -.
DR   DMDM; 294862519; -.
DR   MassIVE; Q4G0Z9; -.
DR   PaxDb; 9606-ENSP00000413632; -.
DR   PeptideAtlas; Q4G0Z9; -.
DR   ProteomicsDB; 62145; -. [Q4G0Z9-1]
DR   ProteomicsDB; 62146; -. [Q4G0Z9-2]
DR   ProteomicsDB; 62147; -. [Q4G0Z9-3]
DR   ProteomicsDB; 62148; -. [Q4G0Z9-4]
DR   Antibodypedia; 24923; 84 antibodies from 16 providers.
DR   DNASU; 157777; -.
DR   Ensembl; ENST00000396592.7; ENSP00000379837.3; ENSG00000178460.18. [Q4G0Z9-2]
DR   Ensembl; ENST00000422365.7; ENSP00000413632.2; ENSG00000178460.18. [Q4G0Z9-1]
DR   GeneID; 157777; -.
DR   KEGG; hsa:157777; -.
DR   MANE-Select; ENST00000422365.7; ENSP00000413632.2; NM_173518.5; NP_775789.3.
DR   UCSC; uc003xwz.4; human. [Q4G0Z9-1]
DR   AGR; HGNC:26368; -.
DR   CTD; 157777; -.
DR   GeneCards; MCMDC2; -.
DR   HGNC; HGNC:26368; MCMDC2.
DR   HPA; ENSG00000178460; Tissue enhanced (testis).
DR   MalaCards; MCMDC2; -.
DR   MIM; 617545; gene.
DR   neXtProt; NX_Q4G0Z9; -.
DR   OpenTargets; ENSG00000178460; -.
DR   PharmGKB; PA142672364; -.
DR   VEuPathDB; HostDB:ENSG00000178460; -.
DR   eggNOG; KOG0480; Eukaryota.
DR   GeneTree; ENSGT01090000260080; -.
DR   InParanoid; Q4G0Z9; -.
DR   OMA; AEKMIHG; -.
DR   OrthoDB; 5294704at2759; -.
DR   PhylomeDB; Q4G0Z9; -.
DR   TreeFam; TF332272; -.
DR   PathwayCommons; Q4G0Z9; -.
DR   SignaLink; Q4G0Z9; -.
DR   BioGRID-ORCS; 157777; 37 hits in 1143 CRISPR screens.
DR   ChiTaRS; MCMDC2; human.
DR   GenomeRNAi; 157777; -.
DR   Pharos; Q4G0Z9; Tbio.
DR   PRO; PR:Q4G0Z9; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   RNAct; Q4G0Z9; Protein.
DR   Bgee; ENSG00000178460; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 98 other cell types or tissues.
DR   ExpressionAtlas; Q4G0Z9; 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:0000727; P:double-strand break repair via break-induced replication; IBA:GO_Central.
DR   GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR   Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 1.
DR   InterPro; IPR031327; MCM.
DR   InterPro; IPR041562; MCM_lid.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   PANTHER; PTHR11630; DNA REPLICATION LICENSING FACTOR MCM FAMILY MEMBER; 1.
DR   PANTHER; PTHR11630:SF75; MINICHROMOSOME MAINTENANCE DOMAIN-CONTAINING PROTEIN 2; 1.
DR   Pfam; PF17855; MCM_lid; 1.
DR   SMART; SM00350; MCM; 1.
DR   Genevisible; Q4G0Z9; HS.
PE   1: Evidence at protein 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_0000255258"
FT   DOMAIN          533..621
FT                   /note="MCM"
FT   MOD_RES         292
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:18669648"
FT   VAR_SEQ         1..242
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_038998"
FT   VAR_SEQ         1..63
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_038999"
FT   VAR_SEQ         64..75
FT                   /note="HQPLKAAEVFQS -> MIASTTMVRSAK (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_039000"
FT   VAR_SEQ         591..681
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_039001"
FT   VARIANT         137
FT                   /note="M -> K (in dbSNP:rs16933088)"
FT                   /id="VAR_028861"
FT   VARIANT         322
FT                   /note="L -> V (in dbSNP:rs17332410)"
FT                   /id="VAR_028862"
FT   VARIANT         583
FT                   /note="S -> A (in dbSNP:rs11778562)"
FT                   /id="VAR_028863"
FT   CONFLICT        94
FT                   /note="T -> M (in Ref. 1; BAG63905)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        164
FT                   /note="Y -> H (in Ref. 1; BAG65055)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        168
FT                   /note="H -> Q (in Ref. 4; CAD97790)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        258
FT                   /note="V -> I (in Ref. 4; CAD97790)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        366
FT                   /note="L -> F (in Ref. 1; BAG65055)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   681 AA;  76219 MW;  21FFAC8E243005BA CRC64;
     MSNLKMKEAA LIYLDRSGGL QKFIDDCKYY NDSKQSYAVY RFKILINPSD VVELDAELGN
     HILHQPLKAA EVFQSVCFIA VKTLSLIGQL QTETQINIVL KLTHLPPLPS YGLDLCEFPL
     DYTSQRFYMM QGIVIAMTTI TKYTQGARFL CSDEACPLSK GFQYIRVHVP GATESATIRN
     DFLCNLCASS LQEDRKFRVL GDKQIVEIIA TKALRAFQGY SNNQPFRFQS LTIFLRDESV
     NKMNIGNEYK IIGIPTCVKT SQTAVCIEAN SITFCNSKVP SGISDNFRCL LSLTSSSCWK
     FTAILANIFA SQITPPGTYN LLKLCLLMSL VQTTDRNKEL EDCLDILIIT SDTLLIDRLL
     NFSINLVPRG IRHLVSTEIF PTLSRNKYGT GAVSIQAGSA LLAKGGICFI GDLASHKKDK
     LEQLQTVLES RSITVYIPGK KFGEDIDQQM TFPVQCSFWS FVDVDSSSRR NAQKINTLIG
     QMDCSLIPAN LVEAFGLLIN CNESSPCHPF LPTVQHTLNK AINPEGLFYA ASRQFTTEDF
     EKLLAFAKNL NVEFSLEAER MTHGYYLASR RIRTGSVCGS KLSASALKYL VFLSEAHARL
     NLRNKVLKED VLIAALLFET SLTLKYGATV FCVAPNAVFP FELYNEEYLE QRDLYLTQCQ
     QQLEQFIATY GPGTTIFSSD E
//