NOP2 - NOP2 nucleolar protein Gene

Homo sapiens

Also known as NOL1; p120; NSUN1; NOP120

Gene ID: 4839 | Gene type: protein coding

About NOP2

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,556,871-6,568,291 (from NCBI)

This gene has 23 transcripts (splice variants), 171 orthologues and 2 paralogues. Ubiquitous expression in lymph node (RPKM 12.9), bone marrow (RPKM 12.9) and 25 other tissues.

Summary

Enables RNA binding activity. Involved in positive regulation of cell population proliferation; regulation of signal transduction by p53 class mediator; and ribosomal large subunit assembly. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

NOP2 Products(5)

mRNA	Protein	Name
NM_001033714.3	NP_001028886.1	probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 1
NM_001258308.2	NP_001245237.1	probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 2
NM_001258309.2	NP_001245238.1	probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 3
NM_001258310.2	NP_001245239.1	probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 4
NM_006170.4	NP_006161.2	probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12080348	GOA
enables rRNA (cytosine-C5-)-methyltransferase activity	IDA IDA: Inferred from direct assay	26196125	GOA
enables rRNA (cytosine-C5-)-methyltransferase activity	IMP IMP: Inferred from mutant phenotype	36161484	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	1394192	GOA
involved in rRNA processing	IDA IDA: Inferred from direct assay	36161484	GOA
involved in regulation of signal transduction by p53 class mediator	IMP IMP: Inferred from mutant phenotype	24120868	GOA
involved in ribosomal large subunit assembly	IMP IMP: Inferred from mutant phenotype	24120868	GOA
involved in ribosomal large subunit biogenesis	IDA IDA: Inferred from direct assay	36161484	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleolus	IDA IDA: Inferred from direct assay	8089149	GOA
located in nucleus	IDA IDA: Inferred from direct assay	36161484	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

NOP2 Protein Structure

Methyltr_RsmB-F

P120R

0
200
400
600
812 a.a.

Protein Preferred Names

Protein Names

probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase

NOL1/NOP2/Sun domain family, member 1

Related Diseases

Diseases

Alias

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy

B-All With Hyperdiploidy

B Lymphoblastic Leukemia Lymphoma With Hyperdiploidy

Cardiomyopathy, Familial Restrictive, 1

RCM1	Restrictive Cardiomyopathy 1
Rcm	Familial Restrictive Cardiomyopathy 1
Cardiomyopathy, Familial Restrictive 1	Cardiomyopathy, Restrictive, Familial, Type 1
Rcm-1

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Lung Cancer Susceptibility 3

Lung Adenocarcinoma	Adenocarcinoma Of Lung
LNCR3	Adenocarcinoma Of Lung, Susceptibility To
Bronchogenic Lung Adenocarcinoma	Nonsmall Cell Adenocarcinoma
Adenocarcinoma Lung	Lung Adenocarcinomas
Non-Small Cell Adenocarcinoma

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09429	NOP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NOP2	RGD	RGD:1304616
Macaca mulatta	NOP2	VGNC	VGNC:75365
Mus musculus	NOP2	MGD	MGI:107891
Felis catus	NOP2	VGNC	VGNC:106435
Canis familiaris	NOP2	VGNC	VGNC:43889
Bos taurus	NOP2	VGNC	VGNC:32167

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