OAZ3

ornithine decarboxylase antizyme 3

Basic information

Region (hg38): 1:151762898-151771334

Links

ENSG00000143450 ∙ NCBI:51686 ∙ OMIM:605138 ∙ HGNC:8097 ∙ Uniprot:Q9UMX2 ∙ 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 OAZ3 gene.

• 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			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: gnomAD

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: dbNSFP

• 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
• 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