G2E3

G2/M-phase specific E3 ubiquitin protein ligase, the group of PHD finger proteins|HECT domain containing

Basic information

Region (hg38): 14:30559158-30620064

Previous symbols: [ "KIAA1333" ]

Links

ENSG00000092140 ∙ NCBI:55632 ∙ OMIM:611299 ∙ HGNC:20338 ∙ Uniprot:Q7L622 ∙ 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 G2E3 gene.

• not_specified (53 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the G2E3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017769.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			49	3		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
G2E3	protein_coding	protein_coding	ENST00000206595	14	60941

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.971	0.0292	125704	0	15	125719	0.0000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.13	237	349	0.679	0.0000166	4650
Missense in Polyphen		38	121.68	0.3123		1653
Synonymous	1.78	94	119	0.792	0.00000568	1240
Loss of Function	4.99	7	41.8	0.168	0.00000246	520

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000625	0.0000625
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000242	0.000231
European (Non-Finnish)	0.0000446	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.000102	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death. {ECO:0000269|PubMed:18511420}.

Recessive Scores

• pRec: 0.0939

Intolerance Scores

• loftool: 0.393
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.29

Haploinsufficiency Scores

• pHI: 0.130
• hipred: Y
• hipred_score: 0.510
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.920

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: G2e3
• Phenotype: cellular 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: apoptotic process;multicellular organism development;protein ubiquitination
• Cellular component: nucleolus;cytosol;intracellular membrane-bounded organelle
• Molecular function: ubiquitin-protein transferase activity;protein binding;metal ion binding