G3BP2

protein-coding

G3BP stress granule assembly factor 2, the group of RNA binding motif containing

Gene summary

Enables molecular condensate scaffold activity. Involved in protein homooligomerization and stress granule assembly. Located in cytoplasmic stress granule and cytosol. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_203505.3

Inheritance

—

ClinVar variants

U:38B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.04

Max pathogenic AF

—

Genomic locus

chr4:75,641,849-75,724,589

External References & Databases

Ensembl (ENSG00000138757)

Transcript & Mutation Effects

hg38 • Region Span ~82.7 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 G3BP2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 29

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_203505.3. 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				1 clinvar		1
missense			32 clinvar	1 clinvar		33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	38	2	0	40

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 183 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_203505.3	RefSeq	NP_987101.1	11	MANE Select
ENST00000359707.9	Ensembl	ENSP00000352738.4	11	MANE Select
NM_001400004.1	RefSeq	NP_001386933.1	11	Standard
NM_001400005.1	RefSeq	NP_001386934.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

TNFalpha

Biological Process

cytoplasmic sequestering of NF-kappaB
Ras protein signal transduction
stress granule assembly
mRNA transport

Molecular Function

RNA binding
mRNA binding
protein binding
receptor signaling complex scaffold activity

Cellular Component

cytoplasm
cytosol
ribonucleoprotein complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000359707
Coding exons: 11
Length: 81744
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125709
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.61	113	284	0.398	0.0000162	3156
Missense (PolyPhen)		37	109.79	0.33701		1214
Synonymous	1.02	74	86.0	0.861	0.00000419	939
Loss of Function	4.59	1	26.5	0.0377	0.00000163	299

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
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	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable scaffold protein that may be involved in mRNA transport. {ECO:0000305}.;

Recessive Scores

pRec: 0.184

Intolerance Scores

LoFtool: 0.107
RVIS EVS: -0.32
RVIS percentile EVS: 31.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.973

Gene Damage Prediction

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