MCM4 - minichromosome maintenance complex component 4 Gene

Homo sapiens

Also known as NKCD; CDC21; CDC54; IMD54; NKGCD; hCdc21; P1-CDC21

Gene ID: 4173 | Gene type: protein coding

About MCM4

Cytogenetic location: 8q11.21 Genomic coordinates (GRCh38): 8:47,960,941-47,978,160 (from NCBI)

This gene has 28 transcripts (splice variants), 211 orthologues, 8 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 21.3), bone marrow (RPKM 19.5) and 24 other tissues.

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 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. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding Enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

MCM4 Products(2)

mRNA	Protein	Name
NM_005914.4	NP_005905.2	DNA replication licensing factor MCM4
NM_182746.3	NP_877423.1	DNA replication licensing factor MCM4

MCM4 Protein Structure

MCM_N

MCM

0
200
400
600
800
863 a.a.

Protein Preferred Names

Protein Names

DNA replication licensing factor MCM4

homolog of S. pombe cell devision cycle 21

Related Diseases

Diseases

Alias

Immunodeficiency 54

Natural Killer Cell Deficiency, Familial Isolated	Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency
IMD54	Nkcd
Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect	Nkgcd
Familial Isolated Natural Killer Cell Deficiency	Primary Immunodeficiency Due To Mcm4 Deficiency

Immunodeficiency 20

Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity	IMD20
Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Nk Cell Cytotoxicity	Cd16 Deficiency
Immunodeficiency, Type 20

Nk Cell Deficiency

Immunodeficiency 55

Combined Immunodeficiency Due To Gins1 Deficiency	IMD55
Cid Due To Gins1 Deficiency	Combined Immunodeficiency With Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia
Combined Immunodeficiency With Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia

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

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome	IMAGE
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies
Image Anomaly	Image Association
Fetal Growth Retardation	Pyle Metaphyseal Dysplasia

Immunodeficiency 21

Monocytopenia And Mycobacterial Infection Syndrome	Monomac
Gata2 Deficiency	Monocytopenia With Susceptibility To Infections
Dcml	IMD21
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency	Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia
Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections	Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections
Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency	Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome
Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia	Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections
Monocyte - B - Natural Killer - Dendritic Cell Deficiency	Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections
Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency	Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Gastric Cancer

Stomach Cancer	Gastric Carcinoma
Stomach Carcinoma	Gastric Cancer, Somatic
Gastric Neoplasm	Carcinoma Of Stomach
Stomach Neoplasms	Malignant Neoplasm Of Stomach
Gastric Cancer Risk After H. Pylori Infection	Cancer Of The Stomach
Adult Stomach Cancer	Adult Stomach Carcinoma
GASC	Gastric Cancer Intestinal
Gastric Cancers	Gastric Carcinomas
Cancer, Gastric	Stomach Neoplasm
Malignant Neoplasm Of Body Of Stomach	Malignant Tumor Of Lesser Curve Of Stomach
Gastrocarcinoma Of Unspecified Site	Leather Bottle Stomach
Carcinoma Of Fundus Of Stomach	Cancer Of Fundus Of Stomach
Primary Malignant Neoplasm Of Body Of Stomach	Cancer Of Body Of Stomach
Primary Malignant Neoplasm Of Pyloric Antrum	Pyloric Antrum Cancer
Malignant Tumour Of Stomach

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

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08237	MCM4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MCM4	VGNC	VGNC:68215
Mus musculus	MCM4	MGD	MGI:103199
Bos taurus	MCM4	VGNC	VGNC:106815
Macaca mulatta	MCM4	VGNC	VGNC:74683
Rattus norvegicus	MCM4	RGD	RGD:3060
Canis familiaris	MCM4	VGNC	VGNC:43084