AZIN2

antizyme inhibitor 2

Basic information

Region (hg38): 1:33081103-33123492

Previous symbols: [ "ADC" ]

Links

ENSG00000142920 ∙ NCBI:113451 ∙ OMIM:608353 ∙ HGNC:29957 ∙ Uniprot:Q96A70 ∙ 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 AZIN2 gene.

• Inborn genetic diseases (15 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AZIN2 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					1	1
missense			13	2	2	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	3

Variants in AZIN2

This is a list of pathogenic ClinVar variants found in the AZIN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-33082340-T-C		not specified	Uncertain significance (Aug 02, 2022)
1-33084063-A-G		not specified	Uncertain significance (Feb 27, 2023)
1-33092104-G-A		not specified	Uncertain significance (Jun 11, 2021)
1-33092150-A-T		not specified	Uncertain significance (Mar 27, 2023)
1-33092185-G-A		not specified	Uncertain significance (Sep 15, 2021)
1-33092209-C-T		not specified	Uncertain significance (Jul 11, 2023)
1-33092212-C-T			Benign (Dec 28, 2017)
1-33093332-G-A		not specified	Uncertain significance (Apr 07, 2023)
1-33093391-C-A			Benign (May 31, 2018)
1-33094597-A-G		not specified	Uncertain significance (Dec 26, 2023)
1-33094610-G-A		not specified	Uncertain significance (May 11, 2022)
1-33094662-C-A		not specified	Uncertain significance (Dec 07, 2021)
1-33096715-C-T			Benign (Dec 28, 2017)
1-33096791-T-A		not specified	Uncertain significance (May 27, 2022)
1-33098091-C-T		not specified	Uncertain significance (Jun 22, 2021)
1-33098168-A-C		not specified	Uncertain significance (Sep 07, 2022)
1-33117906-C-A		not specified	Uncertain significance (Dec 19, 2023)
1-33117959-G-A		not specified	Uncertain significance (Jun 06, 2023)
1-33118053-T-C		not specified	Likely benign (Dec 06, 2021)
1-33118062-C-G		not specified	Uncertain significance (Jan 23, 2024)
1-33118064-T-C		not specified	Likely benign (Oct 04, 2022)
1-33118106-C-T		not specified	Uncertain significance (Aug 26, 2022)
1-33120151-G-A		not specified	Uncertain significance (Jan 31, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AZIN2	protein_coding	protein_coding	ENST00000294517	9	39427

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.87e-7	0.926	125709	0	39	125748	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.467	246	267	0.920	0.0000147	3000
Missense in Polyphen		69	91.555	0.75365		1068
Synonymous	0.290	113	117	0.966	0.00000726	936
Loss of Function	1.75	13	21.8	0.596	0.00000112	238

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.000233	0.000231
European (Non-Finnish)	0.0000970	0.0000967
Middle Eastern	0.000326	0.000326
South Asian	0.000427	0.000425
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme- binding (PubMed:17900240). Inhibits antizyme-dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240). Participates in the morphological integrity of the trans-Golgi network (TGN) and functions as a regulator of intracellular secretory vesicle trafficking (PubMed:20188728). {ECO:0000269|PubMed:17900240, ECO:0000269|PubMed:20188728}.
• Pathway: Arginine and proline metabolism - Homo sapiens (human);putrescine biosynthesis II;Agmatine biosynthesis;Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism (Consensus)

Recessive Scores

• pRec: 0.324

Intolerance Scores

• rvis_EVS: 0.0000761
• rvis_percentile_EVS: 53.98

Haploinsufficiency Scores

• pHI: 0.427
• hipred: N
• hipred_score: 0.354
• ghis: 0.521

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Azin2
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: spermatogenesis;putrescine transport;putrescine biosynthetic process from ornithine;negative regulation of protein catabolic process;positive regulation of catalytic activity;agmatine biosynthetic process;trans-Golgi network membrane organization;positive regulation of polyamine transmembrane transport
• Cellular component: nucleus;cytoplasm;mitochondrion;cis-Golgi network;trans-Golgi network;cytosol;transport vesicle;axon;dendrite;cytoplasmic vesicle;endoplasmic reticulum-Golgi intermediate compartment membrane;perikaryon;perinuclear region of cytoplasm;granular vesicle
• Molecular function: ornithine decarboxylase activity;protein binding;arginine decarboxylase activity;putrescine transmembrane transporter activity;ornithine decarboxylase activator activity