NOL12

protein-coding

nucleolar protein 12

Gene summary

Enables identical protein binding activity. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_024313.3

Inheritance

—

ClinVar variants

U:46B:3

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr22:37,681,673-37,693,476

External References & Databases

Ensembl (ENSG00000273899)

Transcript & Mutation Effects

hg38 • Region Span ~11.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to NOL12 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024313.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			42 clinvar	2 clinvar	1 clinvar	45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	46	2	1	49

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024313.3	RefSeq	NP_077289.1	6	MANE Select
ENST00000359114.9	Ensembl	ENSP00000352021.4	6	MANE Select
ENST00000438329.5	Ensembl	ENSP00000403059.1	6	Standard
ENST00000611699.1	Ensembl	ENSP00000482349.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

rRNA processing
nucleolus organization
positive regulation of cell population proliferation
positive regulation of cell growth
negative regulation of apoptotic process

Molecular Function

single-stranded DNA binding
RNA binding
protein binding
rRNA binding

Cellular Component

nucleolus

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May bind to 28S rRNA. {ECO:0000250}.;

Recessive Scores

pRec: 0.208

Intolerance Scores

LoFtool: 0.239
RVIS EVS: -0.03
RVIS percentile EVS: 51.66

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.829

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium