1. Gene
  2. MCM2 - minichromosome maintenance complex component 2 Gene

MCM2 - minichromosome maintenance complex component 2 Gene

Homo sapiens

Also known as BM28; CCNL1; CDCL1; cdc19; DFNA70; D3S3194; MITOTIN

Gene ID: 4171 | Gene type: protein coding

About MCM2

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:127,598,411-127,622,436 (from NCBI)

This gene has 9 transcripts (splice variants), 206 orthologues, 8 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 27.3), lymph node (RPKM 14.9) and 23 other tissues.

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. [provided by RefSeq, Oct 2012]

MCM2 Products(1)

mRNA Protein Name
NM_004526.4 NP_004517.2 DNA replication licensing factor MCM2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables histone binding EXP
EXP: Inferred from Experiment
25618846 GOA
enables histone binding IPI
IPI: Inferred from physical interaction
25618846 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11095689 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA replication initiation IMP
IMP: Inferred from mutant phenotype
16899510 GOA
involved in DNA unwinding involved in DNA replication IDA
IDA: Inferred from direct assay
22474384 GOA
involved in apoptotic process IMP
IMP: Inferred from mutant phenotype
26196677 GOA
involved in cochlea development IMP
IMP: Inferred from mutant phenotype
26196677 GOA
Cellular Component GO Annotation Evidence Reference Source
part of CMG complex IPI
IPI: Inferred from physical interaction
22474384 GOA
part of MCM complex IDA
IDA: Inferred from direct assay
17296731 GOA
part of MCM complex IPI
IPI: Inferred from physical interaction
22540012 GOA
located in chromatin IDA
IDA: Inferred from direct assay
16899510 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
26196677 GOA
NOT located in nucleolus IDA
IDA: Inferred from direct assay
21383955 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16899510 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

DNA replication licensing factor MCM2

cell devision cycle-like 1

Related Diseases

Diseases Alias
Deafness, Autosomal Dominant 70

DFNA70

Autosomal Dominant Nonsyndromic Deafness 70

Autosomal Dominant Deafness 70

Deafness, Autosomal Dominant, 70

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Follicular Adenoma

Follicular Adenoma Of The Thyroid Gland

Thyroid Follicular Adenoma

Adenoma Follicular

Follicular Thyroid Adenoma

Thyroid Gland Follicular Adenoma

Laryngeal Squamous Cell Carcinoma

Epidermoid Carcinoma Of The Larynx

Squamous Cell Carcinoma Of Larynx

Squamous Cell Carcinoma Of The Larynx

Squamous Cell Carcinoma Of Head And Neck

Cervix Endometriosis

Endometriosis Of Cervix

Cervical Endometriosis

Transitional Cell Carcinoma

Transitional Cell Neoplasm

Carcinoma, Transitional Cell

Transitional Carcinoma

Transitional Cell Tumor

Urothelial Cell Carcinoma

Carcinoma Transitional Cell

Transitional Cell Carcinoma Of Bladder

Cardiomyopathy, Familial Hypertrophic, 6

Hypertrophic Cardiomyopathy 6

CMH6

Familial Hypertrophic Cardiomyopathy With Wolff-Parkinson-White Syndrome

Cardiomyopathy, Familial Hypertrophic 6

Cardiomyopathy, Hypertrophic 6

Cardiomyopathy, Hypertrophic, Familial, Type 6

Immunodeficiency 7

Tcr-Alpha-Beta-Positive T-Cell Deficiency

IMD7

T-Cell Receptor-Alpha/Beta Deficiency

Immunodeficiency 7, Tcr-Alpha/Beta Deficient

Tcr-Alpha/Beta Deficiency

Tcr-Alpha-Beta+ T-Cell Deficiency

T-Cell Receptor Alpha/Beta Deficiency

Barrett Esophagus

Barrett'S Esophagus

Barrett Esophagus/Esophageal Adenocarcinoma

Barrett Metaplasia

Barrett'S Ulcer Of Esophagus

Ulcerative Esophagitis

Barrett'S Esophagus With Esophagitis

Barrett'S Oesophagus

Barretts Syndrome

Barrett Syndrome

BE

Peptic Ulcer Of Esophagus

Adenocarcinoma Of Esophagus

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency

Acth Resistance

Adrenal Unresponsiveness To Acth

Hereditary Unresponsiveness To Adrenocorticotropic Hormone

Isolated Glucocorticoid Deficiency

Glucocorticoid Deficiency, Familial

Glucocorticoid Deficiency 1

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MCM2 RGD RGD:1305577
Mus musculus MCM2 MGD MGI:105380
Canis familiaris MCM2 VGNC VGNC:43081
Bos taurus MCM2 VGNC VGNC:31308
Felis catus MCM2 VGNC VGNC:68212
Macaca mulatta MCM2 VGNC VGNC:74680