AZIN2

Summary

AZIN2 (antizyme inhibitor 2, HGNC:29957) is a protein-coding gene on chromosome 1p35.1, encoding Antizyme inhibitor 2 (Q96A70). Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake.

The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer’s disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene.

Source: NCBI Gene 113451 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 131 total
• MANE Select transcript: NM_052998

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29957
Approved symbol	AZIN2
Name	antizyme inhibitor 2
Location	1p35.1
Locus type	gene with protein product
Status	Approved
Aliases	ODC-p, ODC1L, KIAA1945, ODCp
Ensembl gene	ENSG00000142920
Ensembl biotype	protein_coding
OMIM	608353
Entrez	113451

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 16 protein_coding, 16 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000294517, ENST00000373441, ENST00000373443, ENST00000462920, ENST00000471119, ENST00000473089, ENST00000475935, ENST00000477570, ENST00000478204, ENST00000478635, ENST00000481886, ENST00000483027, ENST00000484656, ENST00000492420, ENST00000492521, ENST00000495135, ENST00000497280, ENST00000497710, ENST00000652171, ENST00000652381, ENST00000910998, ENST00000910999, ENST00000911000, ENST00000911001, ENST00000911002, ENST00000911003, ENST00000911004, ENST00000911005, ENST00000911006, ENST00000911007, ENST00000951908, ENST00000951909, ENST00000951910

RefSeq mRNA: 18 — MANE Select: NM_052998 NM_001293562, NM_001301823, NM_001301824, NM_001301825, NM_001301826, NM_001350398, NM_001350399, NM_001350400, NM_001350401, NM_001350402, NM_001376722, NM_001376724, NM_001376725, NM_001376727, NM_001376729, NM_001376730, NM_001376732, NM_052998

CCDS: CCDS375, CCDS76138

Canonical transcript exons

ENST00000294517 — 12 exons

Exon	Start	End
ENSE00001049722	33081388	33081508
ENSE00001049724	33081153	33081294
ENSE00001315531	33081601	33081812
ENSE00003459129	33117902	33118116
ENSE00003461209	33094548	33094713
ENSE00003469063	33093282	33093416
ENSE00003470955	33092050	33092222
ENSE00003599728	33098067	33098179
ENSE00003643547	33082178	33082354
ENSE00003647100	33096707	33096869
ENSE00003673196	33083954	33084127
ENSE00003847344	33120044	33123492

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 93.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.6161 / max 211.2762, expressed in 1048 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2050	2.6161	1048

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	93.82	gold quality
left testis	UBERON:0004533	93.52	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.04	gold quality
spinal cord	UBERON:0002240	92.25	gold quality
prefrontal cortex	UBERON:0000451	92.05	gold quality
corpus callosum	UBERON:0002336	91.21	gold quality
testis	UBERON:0000473	90.49	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.16	gold quality
right frontal lobe	UBERON:0002810	89.41	gold quality
frontal cortex	UBERON:0001870	89.07	gold quality
neocortex	UBERON:0001950	88.43	gold quality
substantia nigra	UBERON:0002038	88.23	gold quality
anterior cingulate cortex	UBERON:0009835	88.18	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.10	gold quality
tendon of biceps brachii	UBERON:0008188	88.02	gold quality
sperm	CL:0000019	87.87	gold quality
midbrain	UBERON:0001891	87.80	gold quality
oocyte	CL:0000023	87.65	gold quality
putamen	UBERON:0001874	87.59	gold quality
inferior vagus X ganglion	UBERON:0005363	87.49	gold quality
ventricular zone	UBERON:0003053	87.48	gold quality
cerebral cortex	UBERON:0000956	87.07	gold quality
caudate nucleus	UBERON:0001873	87.06	gold quality
pons	UBERON:0000988	86.96	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.44	gold quality
hypothalamus	UBERON:0001898	86.36	gold quality
secondary oocyte	CL:0000655	86.14	gold quality
amygdala	UBERON:0001876	85.89	gold quality
forebrain	UBERON:0001890	85.89	gold quality
subthalamic nucleus	UBERON:0001906	85.77	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6058	no	160.46
E-GEOD-111727	no	20.02
E-ANND-3	no	4.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting AZIN2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-7158-3P	98.46	66.45	728
HSA-MIR-4786-5P	97.45	67.89	924

Literature-anchored findings (GeneRIF, showing 10)

• localization of AZIN2 implies possible involvement in the gonadal synthesis and/or release of steroid hormones. (PMID:19756694)
• ODC activity is mostly linked to cell proliferation, whereas its regulation by AZIN2 in post-mitotically differentiated neurons of the brain apparently serves different purposes. (PMID:19832840)
• AZIN2 expression appears to be restricted to brain and testis and it is a labile protein degraded by a ubiquitin-dependent mechanism. (PMID:19956990)
• Both endogenous and FLAG-tagged AZIN2 localize to post-Golgi vesicles of the secretory pathway. Immuno-electron microscopy revealed that the vesicles associate mainly with the trans-Golgi network. (PMID:20188728)
• The high expression of AZIN2 in various cells with secretory or vesicle transport activity indicates that the polyamine metabolism regulated by AZIN2 (PMID:26963840)
• The morphological change induced by hADC gene delivery was the expression levels of adhesion molecules, N-CAM and integrin and showed modulation of brain-derived neurotrophic factor (BDNF), phosphoinositide 3-kinase (PI3K) and ERK1/2 expressions. (PMID:27591482)
• AZIN2 splice variant suppressed endogenous cardiac regeneration by targeting the PTEN/Akt pathway. (PMID:29584819)
• Aberrant AZIN2 and polyamine metabolism precipitates tau neuropathology. (PMID:33586680)
• Antizyme inhibitor 2 (AZIN2) associates with better prognosis of head and neck minor salivary gland adenoid cystic carcinoma. (PMID:34046926)
• Enhanced anti-tumor activity of arginine decarboxylase through the incorporation of aromatic amino acids at the multimer-forming interface. (PMID:37899497)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Azin2	ENSMUSG00000028789
rattus_norvegicus	Azin2	ENSRNOG00000051507
drosophila_melanogaster	Odc1	FBGN0013307
drosophila_melanogaster	Odc2	FBGN0013308
caenorhabditis_elegans	F53F10.2	WBGENE00018764

Paralogs (2): ODC1 (ENSG00000115758), AZIN1 (ENSG00000155096)

Protein

Protein identifiers

Antizyme inhibitor 2 — Q96A70 (reviewed: Q96A70)

Alternative names: Arginine decarboxylase, Ornithine decarboxylase-like protein, ornithine decarboxylase paralog

All UniProt accessions (2): Q96A70, A0A494BZU1

UniProt curated annotations — full annotation on UniProt →

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. 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. Participates in the morphological integrity of the trans-Golgi network (TGN) and functions as a regulator of intracellular secretory vesicle trafficking.

Subunit / interactions. Monomer. Interacts with OAZ1, OAZ2 and OAZ3; this interaction disrupts the interaction between the antizyme and ODC1. Does not form a heterodimer with ODC1.

Subcellular location. Nucleus. Cytoplasm. Perinuclear region. Membrane. Cytoplasmic vesicle. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatus. cis-Golgi network. trans-Golgi network. Cytoplasmic granule. Cell projection. Axon. Dendrite. Perikaryon.

Tissue specificity. Expressed in the neocortex, thalamus, hippocampus, cerebellum, medulla oblongata, gray and white matter. Expressed in neurons, oligodendrocytes, basket, Purkinje and pyramidal cells. Expressed in spermatocytes and Leydig cells of the testis. Expressed in luteal theca cells lining corpus luteum cysts and in hilus cells of the ovary. Expressed in primary and neoplastic mast cells (MC) (at protein level). Highly expressed in brain. Also expressed in testis.

Post-translational modifications. Ubiquitinated, leading to its proteasomal degradation; a process that is reduced in presence of antizymes. May also be degraded through the lysosomal degradative pathway in a proteasomal-independent manner.

Domain organisation. The N-terminus domain is necessary for its localization to the ER-Golgi intermediate compartment (ERGIC).

Similarity. Belongs to the Orn/Lys/Arg decarboxylase class-II family. ODC antizyme inhibitor subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q96A70-1	1	yes
Q96A70-2	2
Q96A70-3	3
Q96A70-4	4
Q96A70-5	6

RefSeq proteins (18): NP_001280491, NP_001288752, NP_001288753, NP_001288754, NP_001288755, NP_001337327, NP_001337328, NP_001337329, NP_001337330, NP_001337331, NP_001363651, NP_001363653, NP_001363654, NP_001363656, NP_001363658, NP_001363659, NP_001363661, NP_443724* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000183	Orn/DAP/Arg_de-COase	Family
IPR002433	Orn_de-COase	Family
IPR009006	Ala_racemase/Decarboxylase_C	Homologous_superfamily
IPR022644	De-COase2_N	Domain
IPR022653	De-COase2_pyr-phos_BS	Binding_site
IPR022657	De-COase2_CS	Conserved_site
IPR029066	PLP-binding_barrel	Homologous_superfamily

Pfam: PF02784

Enzyme classification (BRENDA):

• EC 4.1.1.19 — arginine decarboxylase (BRENDA: 97 organisms, 109 substrates, 141 inhibitors, 63 Km, 26 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-ARG	0.0003–7.1	28
L-ARGININE	0.03–14.55	20
L-ORNITHINE	3.55–180	4
L-CANAVANINE	0.233–1.2	2
L-LYSINE	1.61–50	2
L-N5-(IMINOETHYL)-ORNITHINE	9.53	1
NGAMMA-METHYL-L-ARGININE	0.163	1

UniProt features (10 total): splice variant 5, chain 1, region of interest 1, site 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A70-F1	83.94	0.62

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 70 (not modified)

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-351143	Agmatine biosynthesis
R-HSA-1430728	Metabolism
R-HSA-351202	Metabolism of polyamines
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 133 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, BENPORATH_ES_WITH_H3K27ME3, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, BEIER_GLIOMA_STEM_CELL_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, AGTCTTA_MIR499, GOBP_POLYAMINE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOCC_TRANS_GOLGI_NETWORK, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (9): ornithine metabolic process (GO:0006591), spermatogenesis (GO:0007283), obsolete putrescine biosynthetic process from arginine, via ornithine (GO:0033387), negative regulation of protein catabolic process (GO:0042177), positive regulation of catalytic activity (GO:0043085), agmatine biosynthetic process (GO:0097055), trans-Golgi network membrane organization (GO:0098629), positive regulation of polyamine transmembrane transport (GO:1902269), polyamine biosynthetic process (GO:0006596)

GO Molecular Function (5): arginine decarboxylase activity (GO:0008792), ornithine decarboxylase activator activity (GO:0042978), catalytic activity (GO:0003824), protein binding (GO:0005515), carboxy-lyase activity (GO:0016831)

GO Cellular Component (18): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cis-Golgi network (GO:0005801), trans-Golgi network (GO:0005802), cytosol (GO:0005829), transport vesicle (GO:0030133), axon (GO:0030424), dendrite (GO:0030425), cytoplasmic vesicle (GO:0031410), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), perikaryon (GO:0043204), perinuclear region of cytoplasm (GO:0048471), granular vesicle (GO:1990005), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of polyamines	1
Metabolism of amino acids and derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
cytoplasm	6
intracellular membrane-bounded organelle	5
endomembrane system	2
cytoplasmic vesicle	2
neuron projection	2
non-proteinogenic amino acid metabolic process	1
developmental process involved in reproduction	1
male gamete generation	1
negative regulation of catabolic process	1
protein catabolic process	1
regulation of protein catabolic process	1
negative regulation of protein metabolic process	1
catalytic activity	1
positive regulation of molecular function	1
regulation of catalytic activity	1
primary amino compound biosynthetic process	1
membrane organization	1
positive regulation of transmembrane transport	1
polyamine transmembrane transport	1
regulation of polyamine transmembrane transport	1
polyamine metabolic process	1
biogenic amine biosynthetic process	1
carboxy-lyase activity	1
ornithine decarboxylase activity	1
enzyme activator activity	1
ornithine decarboxylase regulator activity	1
molecular_function	1
binding	1
carbon-carbon lyase activity	1
intracellular anatomical structure	1
Golgi apparatus	1
Golgi apparatus subcompartment	1
dendritic tree	1
intracellular vesicle	1
endoplasmic reticulum-Golgi intermediate compartment	1
bounding membrane of organelle	1
neuronal cell body	1

Protein interactions and networks

STRING

1284 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AZIN2	OAZ3	Q9UMX2	966
AZIN2	OAZ2	O95190	919
AZIN2	OAZ1	P54368	907
AZIN2	AGMAT	Q9BSE5	857
AZIN2	SRM	P19623	805
AZIN2	SMS	P52788	737
AZIN2	ARG2	P78540	735
AZIN2	RRM2	P31350	726
AZIN2	PAOX	Q6QHF9	705
AZIN2	OAT	P04181	700
AZIN2	ARG1	P05089	676
AZIN2	ASS1	P00966	672
AZIN2	ASL	P04424	657
AZIN2	AOC1	P19801	649
AZIN2	GATM	P50440	647

IntAct

11 interactions, top by confidence:

A	B	Type	Score
AZIN2	OAZ3	psi-mi:“MI:0915”(physical association)	0.560
OAZ3	AZIN2	psi-mi:“MI:0915”(physical association)	0.560
AZIN2	OAZ2	psi-mi:“MI:0914”(association)	0.530
AZIN2	OAZ3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): AZIN2 (Two-hybrid), OAZ1 (Affinity Capture-MS), OAZ2 (Affinity Capture-MS), CORO7 (Affinity Capture-MS), PRAME (Affinity Capture-MS), TPD52L1 (Affinity Capture-MS), SMARCAL1 (Affinity Capture-MS), LRIF1 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), AZIN2 (Affinity Capture-RNA), PSMC5 (Reconstituted Complex), AZIN2 (Affinity Capture-RNA), OAZ3 (Two-hybrid), Tln1 (Protein-RNA)

ESM2 similar proteins: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A0JN92, A4D126, A6NDS4, A6NER0, A7VL23, B9A6J9, C3VPR6, D4A693, E0CYC6, E0CYR6, P0C7X1, P0C7X4, P85118, Q01534, Q3UX83, Q4AC99, Q4KM84, Q52LC2, Q5NCI0, Q5RFJ8, Q61085, Q63764, Q6DHY5, Q6IPX1, Q6PRD1, Q7Z443, Q86UD7, Q8BVM4, Q8C262, Q8CHQ9, Q8IWD5, Q8IZP1, Q8N8A8, Q8R3N2, Q8TCY9, Q96A70

Diamond homologs: A0A1S4AUX8, B8NHE2, D4A693, E0WN94, O14977, O22616, O35484, O50657, P00860, P07805, P08432, P09057, P11926, P14019, P27116, P27117, P27118, P27119, P27120, P27121, P40807, P40808, P41931, P49725, P50134, P78599, P93351, Q54UF3, Q5MNH7, Q5MNI5, Q5R7K3, Q63764, Q8BVM4, Q8S3N2, Q96A70, Q9FPK5, Q9I8S4, Q9UQW9, Q2G1M6, Q92445

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

131 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	7
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

2178 predictions. Top by Δscore:

Variant	Effect	Δscore
1:33082322:G:GT	donor_gain	1.0000
1:33082323:A:T	donor_gain	1.0000
1:33092223:G:GG	donor_gain	1.0000
1:33094546:A:AG	acceptor_gain	1.0000
1:33094547:G:GG	acceptor_gain	1.0000
1:33096704:CAGA:C	acceptor_loss	1.0000
1:33096705:A:AG	acceptor_gain	1.0000
1:33096705:AGATT:A	acceptor_gain	1.0000
1:33096706:G:GG	acceptor_gain	1.0000
1:33096706:GATT:G	acceptor_gain	1.0000
1:33096706:GATTG:G	acceptor_gain	1.0000
1:33096814:GGC:G	donor_gain	1.0000
1:33096835:G:GT	donor_gain	1.0000
1:33096839:G:GT	donor_gain	1.0000
1:33096839:G:T	donor_gain	1.0000
1:33096865:GGAGG:G	donor_gain	1.0000
1:33096866:GAGG:G	donor_gain	1.0000
1:33096866:GAGGG:G	donor_gain	1.0000
1:33096868:GG:G	donor_gain	1.0000
1:33096869:GG:G	donor_gain	1.0000
1:33098065:A:AG	acceptor_gain	1.0000
1:33098066:G:GA	acceptor_gain	1.0000
1:33098175:AGAAG:A	donor_loss	1.0000
1:33098176:GAAG:G	donor_gain	1.0000
1:33098177:AAG:A	donor_loss	1.0000
1:33098181:T:G	donor_loss	1.0000
1:33081274:GCCGT:G	donor_gain	0.9900
1:33081495:G:GT	donor_gain	0.9900
1:33081498:G:GT	donor_gain	0.9900
1:33081504:GTTTG:G	donor_gain	0.9900

AlphaMissense

3020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:33084110:T:C	F88L	0.971
1:33084112:T:A	F88L	0.971
1:33084112:T:G	F88L	0.971
1:33096743:T:C	F264L	0.962
1:33096744:T:C	F264S	0.962
1:33096745:C:A	F264L	0.962
1:33096745:C:G	F264L	0.962
1:33117932:A:C	S354R	0.961
1:33117934:C:A	S354R	0.961
1:33117934:C:G	S354R	0.961
1:33092066:T:A	V99D	0.958
1:33084036:T:A	V63D	0.956
1:33084111:T:C	F88S	0.956
1:33094658:T:C	L233P	0.955
1:33094627:G:C	G223R	0.951
1:33094618:T:C	F220L	0.949
1:33094620:T:A	F220L	0.949
1:33094620:T:G	F220L	0.949
1:33094606:G:C	A216P	0.947
1:33118022:T:C	F384L	0.946
1:33118024:T:A	F384L	0.946
1:33118024:T:G	F384L	0.946
1:33118017:T:C	L382P	0.944
1:33092170:T:C	F134L	0.942
1:33092172:T:A	F134L	0.942
1:33092172:T:G	F134L	0.942
1:33093413:T:A	V195E	0.942
1:33098099:T:G	Y317D	0.940
1:33093410:G:A	G194D	0.935
1:33093409:G:C	G194R	0.934

dbSNP variants (sampled 300 via entrez): RS1000016877 (1:33092249 G>A,C,T), RS1000048917 (1:33148566 T>C,G), RS1000050725 (1:33119619 T>A,C), RS1000077036 (1:33098806 C>G,T), RS1000082373 (1:33162597 C>G,T), RS1000114862 (1:33162839 G>A), RS1000143709 (1:33147927 A>G), RS1000176822 (1:33105305 G>T), RS1000197274 (1:33151423 A>T), RS1000223969 (1:33109073 T>A), RS1000274953 (1:33136979 A>T), RS1000314542 (1:33105014 G>C), RS1000342841 (1:33113170 G>A), RS1000366230 (1:33138413 A>G), RS1000379703 (1:33097484 C>T)

Disease associations

OMIM: gene MIM:608353 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003876_2	Gut microbiota (beta diversity)	5.000000e-08
GCST005024_107	Pursuit maintenance gain	9.000000e-06
GCST010396_26	Gut microbiota (bacterial taxa, hurdle binary method)	6.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0008433	pursuit maintenance gain measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Decarboxylases

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
Dexamethasone	decreases expression, affects cotreatment	2
Tretinoin	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
bisphenol F	decreases expression, affects cotreatment	1
bisphenol A	decreases methylation	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
clothianidin	decreases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
Temozolomide	decreases expression	1
Decitabine	affects expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
Thiram	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.