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MCM2

Synonyms
BM28, CCNL1, CDCL1, D3S3194, DFNA70, MITOTIN, cdc19
External resources
Summary
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
9
Likely pathogenic
0
VUS
970
Likely benign
1,042
Benign
2,115

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on MCM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
62.5%
Abnormality of head or neck
37.5%
Abnormality of the ear
37.5%
Abnormality of the eye
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of the cardiovascular system
25%
Growth abnormality
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of limbs
12.5%
Abnormality of prenatal development or birth
12.5%
Abnormality of the endocrine system
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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