Gene Gene information from NCBI Gene database.
Entrez ID 4173
Gene name Minichromosome maintenance complex component 4
Gene symbol MCM4
Synonyms (NCBI Gene)
CDC21CDC54IMD54NKCDNKGCDP1-CDC21hCdc21
Chromosome 8
Chromosome location 8q11.21
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 MCM proteins is a key component of t
miRNA miRNA information provided by mirtarbase database.
321
miRTarBase ID miRNA Experiments Reference
MIRT016612 hsa-miR-193b-3p Microarray 20304954
MIRT016612 hsa-miR-193b-3p Proteomics 21512034
MIRT023946 hsa-miR-1-3p Proteomics 18668040
MIRT025322 hsa-miR-34a-5p Proteomics 21566225
MIRT025322 hsa-miR-34a-5p Proteomics 21566225
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYCN Activation 17826980
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000727 Process Double-strand break repair via break-induced replication IBA
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0003677 Function DNA binding IEA
GO:0003678 Function DNA helicase activity IDA 9305914, 25661590
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602638 6947 ENSG00000104738
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P33991
Protein name DNA replication licensing factor MCM4 (EC 3.6.4.12) (CDC21 homolog) (P1-CDC21)
Protein function Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the mol
PDB 6XTX , 6XTY , 7PFO , 7PLO , 7W1Y , 7W68 , 8B9D , 8RWV , 8S09 , 8S0A , 8S0B , 8S0D , 8S0E , 8S0F , 8W0E , 8W0F , 8W0G , 8W0I , 9CAQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14551 MCM_N 163 264 MCM N-terminal domain Domain
PF17207 MCM_OB 270 398 MCM OB domain Domain
PF00493 MCM 445 670 MCM P-loop domain Domain
PF17855 MCM_lid 685 769 MCM AAA-lid domain Domain
Sequence
MSSPASTPSRRGSRRGRATPAQTPRSEDARSSPSQRRRGEDSTSTGELQPMPTSPGVDLQ
SPAAQDVLFSSPPQMHSSAIPLDFDVSSPLTYGTPSSRVEGTPRSGVRGTPVRQRPDLGS
AQKGLQVDLQSDGAAAEDIVASEQSLGQKLVIWGTDVNVAACKENFQRFLQRFIDPLAKE
EENVGIDITEPLYMQRLGEINVIGEPFLNVNCEHIKSFDKNLYRQLISYPQEVIPTFDMA
VNEIFFDRYPDSILEHQIQVRPFN
ALKTKNMRNLNPEDIDQLITISGMVIRTSQLIPEMQ
EAFFQCQVCAHTTRVEMDRGRIAEPSVCGRCHTTHSMALIHNRSLFSDKQMIKLQESPED
MPAGQTPHTVILFAHNDLVDKVQPGDRVNVTGIYRAVP
IRVNPRVSNVKSVYKTHIDVIH
YRKTDAKRLHGLDEEAEQKLFSEKRVELLKELSRKPDIYERLASALAPSIYEHEDIKKGI
LLQLFGGTRKDFSHTGRGKFRAEINILLCGDPGTSKSQLLQYVYNLVPRGQYTSGKGSSA
VGLTAYVMKDPETRQLVLQTGALVLSDNGICCIDEFDKMNESTRSVLHEVMEQQTLSIAK
AGIICQLNARTSVLAAANPIESQWNPKKTTIENIQLPHTLLSRFDLIFLLLDPQDEAYDR
RLAHHLVALY
YQSEEQAEEELLDMAVLKDYIAYAHSTIMPRLSEEASQALIEAYVDMRKI
GSSRGMVSAYPRQLESLIRLAEAHAKVRLSNKVEAIDVEEAKRLHREAL
KQSATDPRTGI
VDISILTTGMSATSRKRKEELAEALKKLILSKGKTPALKYQQLFEDIRGQSDIAITKDMF
EEALRALADDDFLTVTGKTVRLL
Sequence length 863
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  DNA replication
Cell cycle
  Activation of ATR in response to replication stress
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
Switching of origins to a post-replicative state
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Pathogenic; Likely pathogenic rs1563829725, rs1235010442 RCV000030799
RCV001195736
★★★★☆
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
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 54 CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MCM4-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
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
Aarskog syndrome Aarskog Syndrome BEFREE 23279877, 23392095
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31323040, 31545501
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 22354167, 22354170
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 16051427
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 36263058 Associate
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 27476776 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25733866, 31476594, 32830194 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34895070 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20648010, 24386425, 26156831, 28443473, 33107155 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27350734 Inhibit
★☆☆☆☆
Found in Text Mining only