Gene Gene information from NCBI Gene database.
Entrez ID 84515
Gene name Minichromosome maintenance 8 homologous recombination repair factor
Gene symbol MCM8
Synonyms (NCBI Gene)
C20orf154POF10dJ967N21.5
Chromosome 20
Chromosome location 20p12.3
Summary The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance prot
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs138761187 G>A Pathogenic Genic downstream transcript variant, splice acceptor variant
rs201115244 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs606231343 C>G Pathogenic, not-provided Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs777947820 TTGA>- Pathogenic Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs869320753 ->TA Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
404
miRTarBase ID miRNA Experiments Reference
MIRT016553 hsa-miR-193b-3p Microarray 20304954
MIRT020992 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT048686 hsa-miR-99a-5p CLASH 23622248
MIRT721969 hsa-miR-216a-5p HITS-CLIP 19536157
MIRT721968 hsa-miR-148b-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
E2F1 Unknown 16325355
MYCN Activation 17826980
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 23401855
GO:0000724 Process Double-strand break repair via homologous recombination NAS 22771115
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608187 16147 ENSG00000125885
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJA3
Protein name DNA helicase MCM8 (EC 3.6.4.12) (Minichromosome maintenance 8)
Protein function Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NB
PDB 6L0O , 7DP3 , 7WI7 , 7YOX , 8S91 , 8S92 , 8S94
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17207 MCM_OB 206 339 MCM OB domain Domain
PF00493 MCM 389 613 MCM P-loop domain Domain
PF17855 MCM_lid 664 748 MCM AAA-lid domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest levels in placenta, lung and pancreas. Low levels in skeletal muscle and kidney. Expressed in various tumors with highest levels in colon and lung cancers. {ECO:0000269|PubMed:12771218}.
Sequence
MNGEYRGRGFGRGRFQSWKRGRGGGNFSGKWREREHRPDLSKTTGKRTSEQTPQFLLSTK
TPQSMQSTLDRFIPYKGWKLYFSEVYSDSSPLIEKIQAFEKFFTRHIDLYDKDEIERKGS
ILVDFKELTEGGEVTNLIPDIATELRDAPEKTLACMGLAIHQVLTKDLERHAAELQAQEG
LSNDGETMVNVPHIHARVYNYEPLTQLKNVRANYYGKYIALRGTVVRVSNIKPLCTKMAF
LCAACGEIQSFPLPDGKYSLPTKCPVPVCRGRSFTALRSSPLTVTMDWQSIKIQELMSDD
QREAGRIPRTIECELVHDLVDSCVPGDTVTITGIVKVSN
AEEGSRNKNDKCMFLLYIEAN
SISNSKGQKTKSSEDGCKHGMLMEFSLKDLYAIQEIQAEENLFKLIVNSLCPVIFGHELV
KAGLALALFGGSQKYADDKNRIPIRGDPHILVVGDPGLGKSQMLQAACNVAPRGVYVCGN
TTTTSGLTVTLSKDSSSGDFALEAGALVLGDQGICGIDEFDKMGNQHQALLEAMEQQSIS
LAKAGVVCSLPARTSIIAAANPVGGHYNKAKTVSENLKMGSALLSRFDLVFILLDTPNEH
HDHLLSEHVIAIR
AGKQRTISSATVARMNSQDSNTSVLEVVSEKPLSERLKVVPGETIDP
IPHQLLRKYIGYARQYVYPRLSTEAARVLQDFYLELRKQSQRLNSSPITTRQLESLIRLT
EARARLELREEATKEDAEDIVEIMKYSM
LGTYSDEFGNLDFERSQHGSGMSNRSTAKRFI
SALNNVAERTYNNIFQFHQLRQIAKELNIQVADFENFIGSLNDQGYLLKKGPKVYQLQTM
Sequence length 840
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Activation of ATR in response to replication stress
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Azoospermia Likely pathogenic rs140044814 RCV001797582
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 10 Likely pathogenic; Pathogenic rs775156125, rs140773345, rs140044814, rs606231343, rs762416121, rs138761187, rs869320753, rs531099221, rs201115244 RCV001839421
RCV001356475
RCV005052841
RCV000162356
RCV005636732
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 12771218
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31323040
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 35172124 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Azoospermia Azoospermia HPO_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B-Cell Lymphomas B-Cell Lymphoma BEFREE 26823731
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 30194396
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 19448619 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36575045 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36445337 Stimulate
★☆☆☆☆
Found in Text Mining only