G3BP2

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

Basic information

Region (hg38): 4:75641848-75724589

Links

ENSG00000138757 ∙ NCBI:9908 ∙ OMIM:620020 ∙ HGNC:30291 ∙ Uniprot:Q9UN86 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the G3BP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the G3BP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	1	0

Variants in G3BP2

This is a list of pathogenic ClinVar variants found in the G3BP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-75645456-C-T		not specified	Uncertain significance (Feb 23, 2023)
4-75645463-T-A		not specified	Uncertain significance (Feb 15, 2023)
4-75645590-T-C		not specified	Uncertain significance (May 26, 2024)
4-75645698-A-C		not specified	Uncertain significance (Jan 23, 2023)
4-75648729-C-T		not specified	Uncertain significance (Jun 07, 2023)
4-75648733-G-A			Likely benign (Oct 01, 2022)
4-75654012-G-A		not specified	Uncertain significance (Apr 22, 2022)
4-75655137-C-G		not specified	Uncertain significance (Mar 07, 2023)
4-75655184-T-C		not specified	Uncertain significance (Mar 21, 2022)
4-75655796-T-A		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
G3BP2	protein_coding	protein_coding	ENST00000359707	11	81744

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000461	125708	0	1	125709	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.61	113	284	0.398	0.0000162	3156
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable scaffold protein that may be involved in mRNA transport. {ECO:0000305}.
• Pathway: TNFalpha (Consensus)

Recessive Scores

• pRec: 0.184

Intolerance Scores

• loftool: 0.107
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.963
• hipred: Y
• hipred_score: 0.673
• ghis: 0.690

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: G3bp2
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: cytoplasmic sequestering of NF-kappaB;Ras protein signal transduction;stress granule assembly;mRNA transport
• Cellular component: cytoplasm;cytosol;ribonucleoprotein complex
• Molecular function: RNA binding;mRNA binding;protein binding;receptor signaling complex scaffold activity