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Protein

Minichromosome maintenance domain-containing protein 2

Gene

MCMDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays an important role in meiotic recombination and associated DNA double-strand break repair.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDNA damage, DNA repair, Meiosis

Names & Taxonomyi

Protein namesi
Recommended name:
Minichromosome maintenance domain-containing protein 2
Short name:
MCM domain-containing protein 2
Gene namesi
Name:MCMDC2
Synonyms:C8orf45
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000178460.17
HGNCiHGNC:26368 MCMDC2
MIMi617545 gene
neXtProtiNX_Q4G0Z9

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000178460
PharmGKBiPA142672364

Polymorphism and mutation databases

BioMutaiMCMDC2
DMDMi294862519

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002552581 – 681Minichromosome maintenance domain-containing protein 2Add BLAST681

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei292PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ4G0Z9
PeptideAtlasiQ4G0Z9
PRIDEiQ4G0Z9
ProteomicsDBi62145
62146 [Q4G0Z9-2]
62147 [Q4G0Z9-3]
62148 [Q4G0Z9-4]

PTM databases

iPTMnetiQ4G0Z9
PhosphoSitePlusiQ4G0Z9

Expressioni

Gene expression databases

BgeeiENSG00000178460
CleanExiHS_C8orf45
ExpressionAtlasiQ4G0Z9 baseline and differential
GenevisibleiQ4G0Z9 HS

Organism-specific databases

HPAiHPA026522

Interactioni

Protein-protein interaction databases

IntActiQ4G0Z9, 1 interactor
STRINGi9606.ENSP00000413632

Structurei

3D structure databases

ProteinModelPortaliQ4G0Z9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini533 – 621MCMAdd BLAST89

Phylogenomic databases

eggNOGiKOG0480 Eukaryota
COG1241 LUCA
GeneTreeiENSGT00390000015557
HOGENOMiHOG000070159
HOVERGENiHBG081139
InParanoidiQ4G0Z9
OMAiQGIVIAM
OrthoDBiEOG091G02U4
PhylomeDBiQ4G0Z9
TreeFamiTF332272

Family and domain databases

InterProiView protein in InterPro
IPR031327 MCM
IPR001208 MCM_dom
PANTHERiPTHR11630 PTHR11630, 1 hit
PfamiView protein in Pfam
PF00493 MCM, 1 hit
SMARTiView protein in SMART
SM00350 MCM, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4G0Z9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSNLKMKEAA LIYLDRSGGL QKFIDDCKYY NDSKQSYAVY RFKILINPSD
60 70 80 90 100
VVELDAELGN HILHQPLKAA EVFQSVCFIA VKTLSLIGQL QTETQINIVL
110 120 130 140 150
KLTHLPPLPS YGLDLCEFPL DYTSQRFYMM QGIVIAMTTI TKYTQGARFL
160 170 180 190 200
CSDEACPLSK GFQYIRVHVP GATESATIRN DFLCNLCASS LQEDRKFRVL
210 220 230 240 250
GDKQIVEIIA TKALRAFQGY SNNQPFRFQS LTIFLRDESV NKMNIGNEYK
260 270 280 290 300
IIGIPTCVKT SQTAVCIEAN SITFCNSKVP SGISDNFRCL LSLTSSSCWK
310 320 330 340 350
FTAILANIFA SQITPPGTYN LLKLCLLMSL VQTTDRNKEL EDCLDILIIT
360 370 380 390 400
SDTLLIDRLL NFSINLVPRG IRHLVSTEIF PTLSRNKYGT GAVSIQAGSA
410 420 430 440 450
LLAKGGICFI GDLASHKKDK LEQLQTVLES RSITVYIPGK KFGEDIDQQM
460 470 480 490 500
TFPVQCSFWS FVDVDSSSRR NAQKINTLIG QMDCSLIPAN LVEAFGLLIN
510 520 530 540 550
CNESSPCHPF LPTVQHTLNK AINPEGLFYA ASRQFTTEDF EKLLAFAKNL
560 570 580 590 600
NVEFSLEAER MTHGYYLASR RIRTGSVCGS KLSASALKYL VFLSEAHARL
610 620 630 640 650
NLRNKVLKED VLIAALLFET SLTLKYGATV FCVAPNAVFP FELYNEEYLE
660 670 680
QRDLYLTQCQ QQLEQFIATY GPGTTIFSSD E
Length:681
Mass (Da):76,219
Last modified:April 20, 2010 - v3
Checksum:i21FFAC8E243005BA
GO
Isoform 2 (identifier: Q4G0Z9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     591-681: Missing.

Show »
Length:590
Mass (Da):65,838
Checksum:i9EECC189AAEE1C48
GO
Isoform 3 (identifier: Q4G0Z9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-242: Missing.

Show »
Length:439
Mass (Da):48,761
Checksum:i7654BFE4316C3914
GO
Isoform 4 (identifier: Q4G0Z9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: Missing.
     64-75: HQPLKAAEVFQS → MIASTTMVRSAK

Show »
Length:618
Mass (Da):68,919
Checksum:iC53B8ABF3869E76D
GO

Sequence cautioni

The sequence AAH34576 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH63108 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti94T → M in BAG63905 (PubMed:14702039).Curated1
Sequence conflicti164Y → H in BAG65055 (PubMed:14702039).Curated1
Sequence conflicti168H → Q in CAD97790 (PubMed:17974005).Curated1
Sequence conflicti258V → I in CAD97790 (PubMed:17974005).Curated1
Sequence conflicti366L → F in BAG65055 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028861137M → K. Corresponds to variant dbSNP:rs16933088Ensembl.1
Natural variantiVAR_028862322L → V. Corresponds to variant dbSNP:rs17332410Ensembl.1
Natural variantiVAR_028863583S → A. Corresponds to variant dbSNP:rs11778562Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0389981 – 242Missing in isoform 3. 1 PublicationAdd BLAST242
Alternative sequenceiVSP_0389991 – 63Missing in isoform 4. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_03900064 – 75HQPLK…EVFQS → MIASTTMVRSAK in isoform 4. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_039001591 – 681Missing in isoform 2. 1 PublicationAdd BLAST91

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK302672 mRNA Translation: BAG63905.1
AK303003 mRNA Translation: BAG64136.1
AK304170 mRNA Translation: BAG65055.1
AC011031 Genomic DNA No translation available.
BC034576 mRNA Translation: AAH34576.2 Different initiation.
BC063108 mRNA Translation: AAH63108.1 Different initiation.
BX537587 mRNA Translation: CAD97790.2
CCDSiCCDS47869.1 [Q4G0Z9-2]
CCDS6197.2 [Q4G0Z9-1]
RefSeqiNP_001129633.1, NM_001136161.1 [Q4G0Z9-2]
NP_775789.3, NM_173518.4 [Q4G0Z9-1]
XP_005251231.1, XM_005251174.2 [Q4G0Z9-4]
XP_006716496.1, XM_006716433.3 [Q4G0Z9-3]
UniGeneiHs.437006

Genome annotation databases

EnsembliENST00000396592; ENSP00000379837; ENSG00000178460 [Q4G0Z9-2]
ENST00000422365; ENSP00000413632; ENSG00000178460 [Q4G0Z9-1]
GeneIDi157777
KEGGihsa:157777
UCSCiuc003xwz.4 human [Q4G0Z9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMCMD2_HUMAN
AccessioniPrimary (citable) accession number: Q4G0Z9
Secondary accession number(s): B4DYZ3
, B4DZM4, B4E293, Q6P533, Q7Z3P4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: April 20, 2010
Last modified: June 20, 2018
This is version 99 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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