Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
84515
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Minichromosome maintenance 8 homologous recombination repair factor |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
MCM8 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
C20orf154, POF10, dJ967N21.5 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
POF10 |
Chromosome
Chromosome number
|
20 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20p12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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 |
|
Sequence length |
840 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Azoospermia |
Azoospermia |
rs200969445, rs144567652, rs765353898 |
|
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 View all (71 more) |
29059683 |
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 View all (22 more) |
|
Premature ovarian failure |
PREMATURE OVARIAN FAILURE 10 |
rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478 View all (40 more) |
25437880 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Colorectal Cancer |
colorectal cancer |
In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. |
|
GenCC, CBGDA |
Uterine Fibroids |
Uterine Fibroids |
|
|
GWAS |
Preeclampsia |
Preeclampsia |
|
|
GWAS |
Neuroblastoma |
Neuroblastoma |
Loss of SNAI2 function reduces self-renewal, 3D invasion as well as metastatic spread in vivo, while strongly sensitizing neuroblastoma cells to RA-induced growth inhibition. |
|
GWAS, CBGDA |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
31323040, 31545501 |
Adenocarcinoma of Lung |
Stimulate
|
40033404 |
Azoospermia |
Associate
|
35172124 |
Breast Neoplasms |
Associate
|
19448619 |
Carcinoma Hepatocellular |
Associate
|
36575045 |
Carcinoma Squamous Cell |
Stimulate
|
36445337 |
Cardiovascular Diseases |
Associate
|
19448619 |
Choriocarcinoma |
Associate
|
12771218 |
Chromosomal Instability |
Associate
|
28863940 |
Chromosome Breakage |
Associate
|
25437880 |
Chromosome Disorders |
Associate
|
25437880 |
Colonic Neoplasms |
Associate
|
12771218 |
Colorectal Neoplasms |
Associate
|
32841224 |
Colorectal Neoplasms Hereditary Nonpolyposis |
Associate
|
32841224 |
DNA Virus Infections |
Associate
|
27802094 |
Endocrine System Diseases |
Associate
|
25437880 |
Genetic Diseases Inborn |
Associate
|
25437880 |
Glioma |
Associate
|
37349788 |
Growth Disorders |
Associate
|
32652893 |
Hepatoblastoma |
Associate
|
37850543 |
Infertility |
Associate
|
32841224 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
26823731 |
Leukemia Myeloid Acute |
Associate
|
30480765 |
Lung Neoplasms |
Associate
|
35360518 |
Lymphatic Metastasis |
Associate
|
27695057 |
Neoplasms |
Associate
|
12771218, 26823731, 32652893, 36575045, 40033404 |
Osteoporosis |
Associate
|
19448619 |
Ovarian Dysgenesis 2 |
Associate
|
25437880 |
Ovarian Neoplasms |
Associate
|
28863940 |
Pancreatic Neoplasms |
Associate
|
27695057 |
Primary Ovarian Insufficiency |
Associate
|
25437880, 27573988, 27802094, 28863940, 30276597, 32048466, 32652893, 33109206 |
Uterine Cervical Neoplasms |
Associate
|
34404366 |
|