MCM8 (minichromosome maintenance 8 homologous recombination repair factor)

2006-10-01  

Identity

HGNC
LOCATION
20p12.3
LOCUSID
ALIAS
C20orf154,POF10,dJ967N21.5
FUSION GENES

Other Information

Locus ID:

NCBI: 84515
MIM: 608187
HGNC: 16147
Ensembl: ENSG00000125885

Variants:

dbSNP: 84515
ClinVar: 84515
TCGA: ENSG00000125885
COSMIC: MCM8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125885ENST00000265187Q9UJA3
ENSG00000125885ENST00000378883Q9UJA3
ENSG00000125885ENST00000378886Q9UJA3
ENSG00000125885ENST00000378896Q9UJA3
ENSG00000125885ENST00000610722Q9UJA3

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
Activation of ATR in response to replication stressREACTOMER-HSA-176187
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G1-G1/S phasesREACTOMER-HSA-453279
G1/S TransitionREACTOMER-HSA-69206
Activation of the pre-replicative complexREACTOMER-HSA-68962
E2F mediated regulation of DNA replicationREACTOMER-HSA-113510
E2F-enabled inhibition of pre-replication complex formationREACTOMER-HSA-113507
S PhaseREACTOMER-HSA-69242
Synthesis of DNAREACTOMER-HSA-69239
Switching of origins to a post-replicative stateREACTOMER-HSA-69052
Orc1 removal from chromatinREACTOMER-HSA-68949
DNA strand elongationREACTOMER-HSA-69190
Unwinding of DNAREACTOMER-HSA-176974
Regulation of DNA replicationREACTOMER-HSA-69304
Removal of licensing factors from originsREACTOMER-HSA-69300
M/G1 TransitionREACTOMER-HSA-68874
DNA Replication Pre-InitiationREACTOMER-HSA-69002
Assembly of the pre-replicative complexREACTOMER-HSA-68867
CDC6 association with the ORC:origin complexREACTOMER-HSA-68689
CDT1 association with the CDC6:ORC:origin complexREACTOMER-HSA-68827
DNA ReplicationREACTOMER-HSA-69306

References

Pubmed IDYearTitleCitations
194486212009Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.142
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
194486192009Loci at chromosomes 13, 19 and 20 influence age at natural menopause.59
254378802015Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.42
234018552013The MCM8-MCM9 complex promotes RAD51 recruitment at DNA damage sites to facilitate homologous recombination.33
221313682012Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.29
127712182003A new member of the MCM protein family encoded by the human MCM8 gene, located contrapodal to GCD10 at chromosome band 20p12.3-13.21
258737342015Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.21
156844042005Involvement of human MCM8 in prereplication complex assembly by recruiting hcdc6 to chromatin.20
226961502012Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities.17

Citation

Dessen P

MCM8 (minichromosome maintenance 8 homologous recombination repair factor)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43359/mcm8