ANGEL2
protein-codingangel homolog 2
Gene summary
Enables mRNA 3'-UTR binding activity; magnesium ion binding activity; and phosphatase activity. Involved in negative regulation of mitotic cell cycle and regulation of gene expression. Located in Cajal body and cytoplasm. Is active in mitochondrial matrix. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~23.7 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 ANGEL2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_144567.5. 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 | 0 | |||||
| missense | 67 | 67 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 68 | 0 | 0 | 68 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_653168.2 | 9 | MANE Select | |
| Ensembl | ENSP00000355929.3 | 9 | MANE Select | |
| RefSeq | NP_001287682.1 | 8 | Standard | |
| RefSeq | NP_001287684.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of mitotic cell cycle
- 3'-UTR-mediated mRNA stabilization
Molecular Function
- mRNA 3'-UTR binding
Cellular Component
- cytoplasm
- Cajal body
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000366962
- Coding exons
- 9
- Length
- 23645
- Individuals with no LoFs
- 125600
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 148
- Defined
- 125748
- p
- 0.000589
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.882 | 247 | 289 | 0.854 | 0.0000144 | 3554 |
| Missense (PolyPhen) | 81 | 113.19 | 0.71564 | 1414 | ||
| Synonymous | 0.459 | 99 | 105 | 0.943 | 0.00000533 | 1019 |
| Loss of Function | 2.82 | 14 | 30.9 | 0.453 | 0.00000175 | 351 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00017 | 0.00017 | rare |
| Ashkenazi Jewish | 0.00060 | 0.00060 | rare |
| East Asian | 0.00076 | 0.00076 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00095 | 0.00095 | rare |
| South Asian | 0.00023 | 0.00023 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.406
- RVIS EVS
- -0.11
- RVIS percentile EVS
- 45.36
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.696
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |