NOL4 nucleolar protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOL4provided by HGNC
Official Full Name: nucleolar protein 4provided by HGNC
Primary source: HGNC:HGNC:7870
See related: Ensembl:ENSG00000101746 MIM:603577; AllianceGenome:HGNC:7870
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NOLP; CT125; HRIHFB2255
Summary: Predicted to enable RNA binding activity. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in brain (RPKM 3.8), testis (RPKM 3.2) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q12.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (33851100..34224913, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (34042633..34416765, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (31431064..31804877, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene.
Title: Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene.
NOL4 is a novel nuclear marker of small cell carcinoma and other neuroendocrine neoplasms.
Title: NOL4 is a novel nuclear marker of small cell carcinoma and other neuroendocrine neoplasms.
Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen Specifically Expressed in Small-Cell Lung Cancer.
Title: Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen Specifically Expressed in Small-Cell Lung Cancer.
the cosegregation of an intronic rare variant in NOL4 in one family, and a haplotype consisting of three variants in the noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other family, are reported.
Title: Genetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families.
NOL4 was identified as a highly specific promoter methylated gene associated with head and neck squamous cell carcinoma
Title: Validation of nucleolar protein 4 as a novel methylated tumor suppressor gene in head and neck cancer.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genomewide association study of citalopram response in major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G60124 (e-PCR)
- UniSTS:137245

NOL4__3915 (e-PCR)
- UniSTS:462912

SHGC-106862 (e-PCR)
- UniSTS:170062

RH120891 (e-PCR)
- UniSTS:133725

WI-15749 (e-PCR)
- UniSTS:68731

SHGC-68719 (e-PCR)
- UniSTS:170108

SHGC-82933 (e-PCR)
- UniSTS:101247

D18S536 (e-PCR), detects polymorphism
- UniSTS:20637

IB3519 (e-PCR)
- UniSTS:62138

RH122103 (e-PCR)
- UniSTS:134855

SHGC-79750 (e-PCR)
- UniSTS:101078

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in nucleolus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: nucleolar protein 4

Names: cancer/testis antigen 125; nucleolar localized protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.