OAZ3
ornithine decarboxylase antizyme 3
Basic information
Region (hg38): 1:151762899-151771334
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OAZ3 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 | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 3 | |||||
| Total | 0 | 0 | 3 | 0 | 0 |
Variants in OAZ3
This is a list of pathogenic ClinVar variants found in the OAZ3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-151763029-T-C | not specified | Uncertain significance (Mar 01, 2023) | ||
| 1-151763035-G-A | not specified | Uncertain significance (Sep 27, 2021) | ||
| 1-151763039-C-G | not specified | Uncertain significance (Aug 19, 2023) | ||
| 1-151763053-C-G | not specified | Uncertain significance (Mar 31, 2024) | ||
| 1-151763067-C-G | not specified | Uncertain significance (Oct 12, 2021) | ||
| 1-151763077-G-A | not specified | Uncertain significance (Feb 27, 2023) | ||
| 1-151763086-G-A | not specified | Uncertain significance (Dec 09, 2023) | ||
| 1-151763118-T-A | not specified | Uncertain significance (May 13, 2024) | ||
| 1-151763341-G-A | not specified | Uncertain significance (May 27, 2022) | ||
| 1-151763343-C-T | not specified | Uncertain significance (Apr 04, 2023) | ||
| 1-151763403-A-C | not specified | Uncertain significance (Dec 18, 2023) | ||
| 1-151763412-C-T | not specified | Uncertain significance (Jun 07, 2023) | ||
| 1-151763443-G-C | not specified | Uncertain significance (May 28, 2024) | ||
| 1-151763460-G-C | not specified | Uncertain significance (Jan 03, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| OAZ3 | protein_coding | protein_coding | ENST00000321531 | 6 | 8364 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000228 | 0.512 | 125369 | 0 | 48 | 125417 | 0.000191 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.186 | 108 | 114 | 0.951 | 0.00000646 | 1236 |
| Missense in Polyphen | 33 | 35.118 | 0.93969 | 408 | ||
| Synonymous | 1.07 | 35 | 44.0 | 0.795 | 0.00000247 | 366 |
| Loss of Function | 0.594 | 8 | 10.0 | 0.798 | 4.92e-7 | 107 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000578 | 0.000570 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000167 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000232 | 0.000229 |
| Middle Eastern | 0.000167 | 0.000163 |
| South Asian | 0.0000654 | 0.0000653 |
| Other | 0.000331 | 0.000327 |
dbNSFP
Source:
- Function
- FUNCTION: Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimers. Does not target the ODC monomers for degradation, which allows a protein synthesis-independent restoration of ODC activity (PubMed:17900240). Stabilizes AZIN2 by interfering with its ubiquitination. Involved in the translocation of AZNI2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol. Probably plays a key role in spermatogenesis by regulating the intracellular concentration of polyamines in haploid germ cells (By similarity). {ECO:0000250|UniProtKB:Q9R109, ECO:0000269|PubMed:17900240}.;
- Pathway
- Regulation of ornithine decarboxylase (ODC);Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism
(Consensus)
Recessive Scores
- pRec
- 0.115
Haploinsufficiency Scores
- pHI
- 0.249
- hipred
- N
- hipred_score
- 0.172
- ghis
- 0.483
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.683
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Oaz3
- Phenotype
- reproductive system phenotype; cellular phenotype;
Gene ontology
- Biological process
- regulation of cellular amino acid metabolic process;polyamine biosynthetic process;spermatogenesis;putrescine transport;negative regulation of catalytic activity;positive regulation of protein catabolic process;negative regulation of polyamine transmembrane transport
- Cellular component
- nucleus;nucleoplasm;cytoplasm;cytosol;blood microparticle
- Molecular function
- protein binding;ornithine decarboxylase inhibitor activity;putrescine transmembrane transporter activity