RBM33

protein-coding

RNA binding motif protein 33, the group of RNA binding motif containing

Gene summary

Enables N6-methyladenosine-containing RNA reader activity and lncRNA binding activity. Involved in RNA export from nucleus and regulation of mRNA stability. Located in cytoplasm. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

PRR8

MANE transcript

NM_053043.3

Inheritance

—

ClinVar variants

U:164B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.02

Max pathogenic AF

—

Genomic locus

chr7:155,644,451-155,781,485

External References & Databases

Ensembl (ENSG00000184863)

Transcript & Mutation Effects

hg38 • Region Span ~137.0 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 RBM33 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 157

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_053043.3. 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			3 clinvar	4 clinvar		7
missense			156 clinvar	5 clinvar		161
nonsense						0
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	164	9	0	173

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_053043.3	RefSeq	NP_444271.2	18	MANE Select
ENST00000401878.8	Ensembl	ENSP00000384160.3	18	MANE Select
ENST00000287912.7	Ensembl	ENSP00000287912.3	6	Standard
ENST00000287912.8	Ensembl	ENSP00000287912.3	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

RNA binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000401878
Coding exons: 18
Length: 137035
Individuals with no LoFs: 125576
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125581
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.80	535	666	0.804	0.0000402	7541
Missense (PolyPhen)		45	102.79	0.43779		1299
Synonymous	-1.66	308	273	1.13	0.0000184	2321
Loss of Function	6.92	1	57.7	0.0173	0.00000323	632

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000045	0.000044	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.145
RVIS EVS: -1.14
RVIS percentile EVS: 6.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.889

Gene Damage Prediction

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