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NOL4L (nucleolar protein 4 like)

Written2018-10Jean Loup Huret

Abstract Review on NOL4L, with data on DNA, on the protein encoded, and where the gene is implicated.

Keywords NOL4L; C20orf112; C20orf113; Acute lymphoblastic leukemia; Acute myeloid leukemia: Breast adenocarcinoma; Skin melanoma; Uterus cancer; Bladder cancer.

(Note : for Links provided by Atlas : click)


Alias (NCBI)LOC140688
HGNC Alias symbdJ1184F4.2
HGNC Alias namehypothetical protein LOC140688
HGNC Previous nameC20orf113
HGNC Previous namechromosome 20 open reading frame 113
 chromosome 20 open reading frame 112
Atlas_Id 51676
Location 20q11.2  [Link to chromosome band 20q11]
Location_base_pair Starts at 32443059 and ends at 32483490 bp from pter ( according to hg19-Feb_2009)  [Mapping NOL4L.png]
Local_order Cen --- PLAGL2, POFUT1, KIF3B, ASXL1, NOL4L, NOL4L-DT, C20orf203, COMMD7, DNMT3B ---Tel
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note This gene and protein is very poorly known; a very few data comes from the literature, and other data from databases.


Description 11 exons
Transcription 8 potential splice forms coding for potential proteins with 76 amino acids (aa) to 680 aa.


Note Nothing is known concerning the domains of the protein, nor it's function.
Description Two coding proteins: NOL4L-010, from: 11 exons; transcript length: 6,577 bps translation: 680 amino acids; and NOL4L-001, from: 8 exons; transcript length: 5,991 bps translation: 436 amino acids. A Poly-Asp is found at aa 161 to 169 according to Vega (;g=OTTHUMG00000032219;r=20:32443059-32585074) and UniProt (
Expression Expressed in all tissues; High expression in the testis, and, to a lesser extend, in the small intestine, other digestive organs, brain and bone marrow. NOL4L orthologs are present in most vertebrates and are well conserved. In zebrafish embryos, Znol4lb (the zebrafish nol4l with the highest identity with human NOL4L) mRNA is localized to the intermediate mesoderm. It is expressed in the central nervous system, pronephros, the gut and, at low levels, in the hematopoietic cells (Borah et al. 2016).
Localisation Mainly localized to the nucleoplasm.
Function Acccording to BioGRID (, interacts with:
CTBP1 (C-terminal binding protein 1), corepressor targeting various transcription regulators.
TEX9 (testis expressed 9).
SRPK1 (SRSF protein kinase 1), involved in the regulation of splicing via phosphorylation of splicing factors.
CTBP2 (C-terminal binding protein 2), corepressor targeting various transcription regulators.
SKA3 (spindle and kinetochore associated complex subunit 3), component of a microtubule-binding complex essential for chromosome segregation.
TRIM25 (tripartite motif containing 25), ubiquitin E3 ligase.
MIR206 (microRNA 206).

Implicated in

Note Expression level according to Entrez ( and The Human Protein Atlas (
High expression of NOL4L is an unfavourable prognostic factor in endometrial cancer.
High expression of NOL4L is a favourable prognostic factor in urothelial cancer.
Expression level of NOL4L has no prognostic significance in: Glioma, Thyroid cancer, Lung cancer, Liver cancer, Pancreatic cancer, Head and neck cancer, Stomach cancer, Colorectal cancer, Renal cancer, Prostate cancer, Testis cancer, Breast cancer, Cervical cancer, Ovarian cancer, Melanoma .
Main translocations: (detailed herein below)
- dic(9;20)(p13;q11) PAX5/NOL4L.
- t(20;21)(q11;q22) RUNX1/NOL4L.
Other fusion transcripts: (data extracted from the Atlas
- fusion/translocation t(7;20)(p22;q11) ACTB/NOL4L in triple-negative (TN) adenocarcinoma. The triple-negative breast cancer subtype is the most aggressive form of invasive breast adenocarcinoma (Asmann et al. 2012).
- fusion/translocation t(17;20)(q22;q11) MMD/NOL4L in breast adenocarcinoma (Yoshihara et al. 2015).
- fusion 20q11-20q11 NOL4L/ COMMD7 in breast adenocarcinoma (Yoshihara et al. 2015).
- fusion 20q11-20q11 NOL4L/ EFCAB8 in malignant melanoma of the skin (Hu et al., 2018).
- fusion 20q11-20q11 PDRG1/NOL4L in malignant epithelial tumor of the uterus corpus (Hu et al., 2018).
Entity Pediatric acute lymphoblastic leukemia (ALL)
Note 5 cases of dic(9;20) (p13;q11) PAX5/NOL4L available to date (Nebral et al., 2007; An et al., 2008; Kawamata et al., 2008; Kawamata et al. 2012).
Hybrid/Mutated Gene In one case, exon 5 of PAX5 was fused to exon 8 of NOL4L, and in four cases, exon 8 of PAX5 was fused to exon 3 of NOL4L, producing two proteins, a short (PAX5/C20ORF112S) and long (PAX5/C20ORF112L) form, localizing in the nucleus, and/or in the cytoplasm and the nucleus (Kawamata et al., 2008).
Oncogenesis Four downstream target genes of PAX5 ( ATP1B1, BLK, SEPT2 and TCF7L2) were down-regulated by induction of PAX5/NOL4L. Loss of the C-terminal end of PAX5 may play role in generation of a dominant negative form of mutated PAX5 (Kawamata et al., 2008).
Entity Acute myeloid leukemia (AML)
Note A 62-year-old man was diagnosed with AML with maturation (M2- AML), and presented with a t(20;21)(q11.2;q22.1) RUNX1/NOL4L accompanied with monosomy 7 (Guastadisegni et al. 2010).
Hybrid/Mutated Gene RUNX1 exon 6 was fused to NOL4L exon 8.
Oncogenesis Wild-type NOL4L was expressed at low levels in AML and normal bone marrow, whereas the RUNX1/NOL4L was expressed at high levels (Guastadisegni et al. 2010).


Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer
An Q, Wright SL, Konn ZJ, Matheson E, Minto L, Moorman AV, Parker H, Griffiths M, Ross FM, Davies T, Hall AG, Harrison CJ, Irving JA, Strefford JC
Proc Natl Acad Sci U S A 2008 Nov 4;105(44):17050-4
PMID 18957548
Detection of redundant fusion transcripts as biomarkers or disease-specific therapeutic targets in breast cancer
Asmann YW, Necela BM, Kalari KR, Hossain A, Baker TR, Carr JM, Davis C, Getz JE, Hostetter G, Li X, McLaughlin SA, Radisky DC, Schroth GP, Cunliffe HE, Perez EA, Thompson EA
Cancer Res 2012 Apr 15;72(8):1921-8
PMID 22496456
Nucleolar protein 4-like has a complex expression pattern in zebrafish embryos
Borah S, Barrodia P, Swain RK
Int J Dev Biol 2016;60(1-3):53-6
PMID 26934290
CBFA2T2 and C20orf112: two novel fusion partners of RUNX1 in acute myeloid leukemia
Guastadisegni MC, Lonoce A, Impera L, Di Terlizzi F, Fugazza G, Aliano S, Grasso R, Cluzeau T, Raynaud S, Rocchi M, Storlazzi CT
Leukemia 2010 Aug;24(8):1516-9
PMID 20520637
TumorFusions: an integrative resource for cancer-associated transcript fusions
Hu X, Wang Q, Tang M, Barthel F, Amin S, Yoshihara K, Lang FM, Martinez-Ledesma E, Lee SH, Zheng S, Verhaak RGW
Nucleic Acids Res 2018 Jan 4;46(D1):D1144-D1149
PMID 29099951
Cloning of genes involved in chromosomal translocations by high-resolution single nucleotide polymorphism genomic microarray
Kawamata N, Ogawa S, Zimmermann M, Niebuhr B, Stocking C, Sanada M, Hemminki K, Yamatomo G, Nannya Y, Koehler R, Flohr T, Miller CW, Harbott J, Ludwig WD, Stanulla M, Schrappe M, Bartram CR, Koeffler HP
Proc Natl Acad Sci U S A 2008 Aug 19;105(33):11921-6
PMID 18697940
Identification of PML as novel PAX5 fusion partner in childhood acute lymphoblastic leukaemia
Nebral K, König M, Harder L, Siebert R, Haas OA, Strehl S
Br J Haematol 2007 Oct;139(2):269-74
PMID 17897302
The landscape and therapeutic relevance of cancer-associated transcript fusions
Yoshihara K, Wang Q, Torres-Garcia W, Zheng S, Vegesna R, Kim H, Verhaak RG
Oncogene 2015 Sep 10;34(37):4845-54
PMID 25500544


This paper should be referenced as such :
Jean-Loup Huret
NOL4L (nucleolar protein 4 like)
Atlas Genet Cytogenet Oncol Haematol. 2019;23(6):143-145.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(20;21)(q11;q22) RUNX1/NOL4L
dic(9;20)(p13;q11) PAX5/NOL4L

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(7;20)(p22;q11) ACTB/NOL4L
t(17;20)(q22;q11) MMD/NOL4L
NOL4L/COMMD7 (20q11)

External links

HGNC (Hugo)NOL4L   16106
Entrez_Gene (NCBI)NOL4L  140688  nucleolar protein 4 like
AliasesC20orf112; C20orf113
GeneCards (Weizmann)NOL4L
Ensembl hg19 (Hinxton)ENSG00000197183 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197183 [Gene_View]  ENSG00000197183 [Sequence]  chr20:32443059-32483490 [Contig_View]  NOL4L [Vega]
ICGC DataPortalENSG00000197183
TCGA cBioPortalNOL4L
Genatlas (Paris)NOL4L
SOURCE (Princeton)NOL4L
Genetics Home Reference (NIH)NOL4L
Genomic and cartography
GoldenPath hg38 (UCSC)NOL4L  -     chr20:32443059-32483490 -  20q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NOL4L  -     20q11.21   [Description]    (hg19-Feb_2009)
GoldenPathNOL4L - 20q11.21 [CytoView hg19]  NOL4L - 20q11.21 [CytoView hg38]
genome Data Viewer NCBINOL4L [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK056286 AK097804 AL122043 AL834520 BC023657
RefSeq transcript (Entrez)NM_001256798 NM_001351680 NM_080616
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NOL4L
Alternative Splicing GalleryENSG00000197183
Gene ExpressionNOL4L [ NCBI-GEO ]   NOL4L [ EBI - ARRAY_EXPRESS ]   NOL4L [ SEEK ]   NOL4L [ MEM ]
Gene Expression Viewer (FireBrowse)NOL4L [ Firebrowse - Broad ]
GenevisibleExpression of NOL4L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
GTEX Portal (Tissue expression)NOL4L
Human Protein AtlasENSG00000197183-NOL4L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96MY1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96MY1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96MY1
Splice isoforms : SwissVarQ96MY1
Domains : Interpro (EBI)NOL4/NOL4L    NOL4L   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)NOL4L
DMDM Disease mutations140688
Blocks (Seattle)NOL4L
Human Protein Atlas [tissue]ENSG00000197183-NOL4L [tissue]
Peptide AtlasQ96MY1
IPIIPI00289086   IPI00607558   IPI00872049   IPI00644822   IPI00645248   IPI00647935   IPI00552263   IPI00645330   
Protein Interaction databases
IntAct (EBI)Q96MY1
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleoplasm  cytosol  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytosol  
NDEx NetworkNOL4L
Atlas of Cancer Signalling NetworkNOL4L
Wikipedia pathwaysNOL4L
Orthology - Evolution
GeneTree (enSembl)ENSG00000197183
Phylogenetic Trees/Animal Genes : TreeFamNOL4L
Homologs : HomoloGeneNOL4L
Homology/Alignments : Family Browser (UCSC)NOL4L
Gene fusions - Rearrangements
Fusion : MitelmanACTB/NOL4L [7p22.1/20q11.21]  
Fusion : MitelmanPAX5/NOL4L [9p13.2/20q11.21]  
Fusion : MitelmanRUNX1/NOL4L [21q22.12/20q11.21]  
Fusion : Fusion_HubASXL1--NOL4L    NOL4L--COMMD7    NOL4L--PAX5    NOL4L--RUNX1   
Fusion : QuiverNOL4L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNOL4L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NOL4L
Exome Variant ServerNOL4L
GNOMAD BrowserENSG00000197183
Varsome BrowserNOL4L
Genetic variants : HAPMAP140688
Genomic Variants (DGV)NOL4L [DGVbeta]
DECIPHERNOL4L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNOL4L 
ICGC Data PortalNOL4L 
TCGA Data PortalNOL4L 
Broad Tumor PortalNOL4L
OASIS PortalNOL4L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNOL4L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNOL4L
Mutations and Diseases : HGMDNOL4L
BioMutasearch NOL4L
DgiDB (Drug Gene Interaction Database)NOL4L
DoCM (Curated mutations)NOL4L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NOL4L (select a term)
NCG6 (London) select NOL4L
Cancer3DNOL4L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry NOL4L
NextProtQ96MY1 [Medical]
Target ValidationNOL4L
Huge Navigator NOL4L [HugePedia]
snp3D : Map Gene to Disease
BioCentury BCIQNOL4L
Clinical trials, drugs, therapy
Protein Interactions : CTD140688
Pharm GKB GenePA25652
Clinical trialNOL4L
canSAR (ICR)NOL4L (select the gene name)
DataMed IndexNOL4L
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:51:11 CEST 2020

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