1. Gene
  2. NOP2 - NOP2 nucleolar protein Gene

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

NOP2 Protein Structure

Methyltr_RsmB-F

Methyltr_RsmB-F: 16S rRNA methyltransferase RsmB/F (300 - 585)

P120R

P120R: P120R (NUC006) repeat (623 - 644)

P120R

P120R: P120R (NUC006) repeat (683 - 705)

P120R

P120R: P120R (NUC006) repeat (749 - 768)

  • 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

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