G2E3
protein-codingG2/M-phase specific E3 ubiquitin protein ligase, the group of PHD finger proteins|HECT domain containing
Gene summary
Enables histone H3K14 ubiquitin ligase activity. Involved in pericentric heterochromatin formation and protein localization to condensed nuclear chromosome. Located in cytosol. Is active in pericentric heterochromatin. [provided by Alliance of Genome Resources, Jun 2026]
- KIAA1333
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~60.9 kbGenCC 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 G2E3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_017769.5. 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 | 1 | 2 | |||
| missense | 60 | 3 | 63 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 62 | 4 | 0 | 66 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_060239.2 | 14 | MANE Select | |
| Ensembl | ENSP00000206595.6 | 14 | MANE Select | |
| RefSeq | NP_001295026.1 | 12 | Standard | |
| Ensembl | ENSP00000391068.2 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- apoptotic process
- multicellular organism development
- protein ubiquitination
Molecular Function
- ubiquitin-protein transferase activity
- protein binding
- metal ion binding
Cellular Component
- nucleolus
- cytosol
- intracellular membrane-bounded organelle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000206595
- Coding exons
- 14
- Length
- 60941
- Individuals with no LoFs
- 125704
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 15
- Defined
- 125719
- p
- 0.0000597
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.13 | 237 | 349 | 0.679 | 0.0000166 | 4650 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000062 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00024 | 0.00023 | rare |
| European (Non-Finnish) | 0.000045 | 0.000044 | rare |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- 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
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.920
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |