URB2

protein-coding

URB2 ribosome biogenesis homolog, the group of Ribosomal biogenesis factors

Gene summary

Predicted to be involved in regulation of signal transduction by p53 class mediator and ribosome biogenesis. Located in midbody and nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA0133

MANE transcript

NM_014777.4

Inheritance

—

ClinVar variants

U:215B:28

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr1:229,626,247-229,660,200

External References & Databases

Ensembl (ENSG00000135763)

Transcript & Mutation Effects

hg38 • Region Span ~34.0 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 URB2 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 225

not providedTotal: 6

Prostate cancerTotal: 1

EpilepsyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014777.4. 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			1 clinvar	2 clinvar	1 clinvar	4
missense			210 clinvar	23 clinvar	2 clinvar	235
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	215	25	3	243

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014777.4	RefSeq	NP_055592.2	9	MANE Select
ENST00000258243.7	Ensembl	ENSP00000258243.2	9	MANE Select
NM_001314021.2	RefSeq	NP_001300950.1	9	Standard
ENST00000434387.1	Ensembl	ENSP00000395107.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

ribosome biogenesis

Cellular Component

nucleolus
aggresome
midbody

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000258243
Coding exons: 9
Length: 33966
Individuals with no LoFs: 125574
Homozygous LoFs: 0
Heterozygous LoFs: 174
Defined: 125748
p: 0.000692

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.376	847	817	1.04	0.0000455	9862
Missense (PolyPhen)		210	199.61	1.052		2568
Synonymous	0.331	349	357	0.978	0.0000216	3174
Loss of Function	2.50	36	56.2	0.640	0.00000291	661

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.00087	0.00087	rare
Ashkenazi Jewish	0.00012	0.000099	rare
East Asian	0.00071	0.00071	rare
Finnish	0.00065	0.00065	rare
European (Non-Finnish)	0.00081	0.00081	rare
South Asian	0.00036	0.00036	rare
Other	0.00098	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0888

Intolerance Scores

LoFtool: 0.922
RVIS EVS: -1.31
RVIS percentile EVS: 4.82

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.277

Gene Damage Prediction

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