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

MCM2 - minichromosome maintenance complex component 2 Gene

中文名称:微染色体维护复杂组件 2

种属: Homo sapiens

同用名: BM28; CCNL1; CDCL1; cdc19; DFNA70; D3S3194; MITOTIN

基因 ID: 4171 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是高度保守的微型染色体维持蛋白 (MCM) 之一,参与真核基因组复制的启动。由 MCM 蛋白形成的六聚体蛋白复合物是复制前复合物 (pre_RC) 的关键组成部分,可能参与复制叉的形成和其他 DNA 复制相关蛋白的募集。该蛋白质与 MCM4、6 和 7 形成复合物,并已显示可调节复合物的解旋酶活性。这种蛋白质被磷酸化,因此受蛋白激酶 CDC2 和 CDC7 的调节。已发现多个可变剪接的转录本变体,但尚未定义某些变体的全长性质。[RefSeq 提供,2012 年 10 月]

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 基因产物(1)

mRNA Protein Name
NM_004526.4 NP_004517.2 DNA replication licensing factor MCM2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone binding EXP
EXP: 通过实验结果推断
25618846 GOA
enables histone binding IPI
IPI: 通过物理相互作用推断
25618846 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11095689 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA replication initiation IMP
IMP: 通过突变表型推断
16899510 GOA
involved in DNA unwinding involved in DNA replication IDA
IDA: 通过直接分析推断
22474384 GOA
involved in apoptotic process IMP
IMP: 通过突变表型推断
26196677 GOA
involved in cochlea development IMP
IMP: 通过突变表型推断
26196677 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CMG complex IPI
IPI: 通过物理相互作用推断
22474384 GOA
part of MCM complex IDA
IDA: 通过直接分析推断
17296731 GOA
part of MCM complex IPI
IPI: 通过物理相互作用推断
22540012 GOA
located in chromatin IDA
IDA: 通过直接分析推断
16899510 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
26196677 GOA
NOT located in nucleolus IDA
IDA: 通过直接分析推断
21383955 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16899510 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

DNA replication licensing factor MCM2

cell devision cycle-like 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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