MCMD2_HUMAN
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 03-AUG-2022, entry version 124.
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. [Q4G0Z9-3]
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; Q4G0Z9; -.
DR PeptideAtlas; Q4G0Z9; -.
DR PRIDE; Q4G0Z9; -.
DR ProteomicsDB; 62145; -. [Q4G0Z9-1]
DR ProteomicsDB; 62146; -. [Q4G0Z9-2]
DR ProteomicsDB; 62147; -. [Q4G0Z9-3]
DR ProteomicsDB; 62148; -. [Q4G0Z9-4]
DR Antibodypedia; 24923; 81 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 CTD; 157777; -.
DR GeneCards; MCMDC2; -.
DR HGNC; HGNC:26368; MCMDC2.
DR HPA; ENSG00000178460; Tissue enhanced (testis).
DR MIM; 617545; gene.
DR neXtProt; NX_Q4G0Z9; -.
DR OpenTargets; ENSG00000178460; -.
DR PharmGKB; PA142672364; -.
DR VEuPathDB; HostDB:ENSG00000178460; -.
DR eggNOG; KOG0480; Eukaryota.
DR GeneTree; ENSGT01050000244972; -.
DR InParanoid; Q4G0Z9; -.
DR OMA; AEKMIHG; -.
DR OrthoDB; 736394at2759; -.
DR PhylomeDB; Q4G0Z9; -.
DR TreeFam; TF332272; -.
DR PathwayCommons; Q4G0Z9; -.
DR SignaLink; Q4G0Z9; -.
DR BioGRID-ORCS; 157777; 37 hits in 1067 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 right testis and 96 other tissues.
DR ExpressionAtlas; Q4G0Z9; baseline and differential.
DR Genevisible; Q4G0Z9; HS.
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; -; 1.
DR InterPro; IPR031327; MCM.
DR InterPro; IPR001208; MCM_dom.
DR InterPro; IPR041562; MCM_lid.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR11630; PTHR11630; 1.
DR Pfam; PF00493; MCM; 1.
DR Pfam; PF17855; MCM_lid; 1.
DR SMART; SM00350; MCM; 1.
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
