AZIN1

Summary

AZIN1 (antizyme inhibitor 1, HGNC:16432) is a protein-coding gene on chromosome 8q22.3, encoding Antizyme inhibitor 1 (O14977). 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 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene.

Source: NCBI Gene 51582 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_148174

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16432
Approved symbol	AZIN1
Name	antizyme inhibitor 1
Location	8q22.3
Locus type	gene with protein product
Status	Approved
Aliases	OAZI, ODC1L
Ensembl gene	ENSG00000155096
Ensembl biotype	protein_coding
OMIM	607909
Entrez	51582

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 13 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000337198, ENST00000347770, ENST00000517581, ENST00000518353, ENST00000518697, ENST00000520402, ENST00000521536, ENST00000523071, ENST00000681985, ENST00000682014, ENST00000682725, ENST00000682969, ENST00000683787, ENST00000683965, ENST00000684459, ENST00000684566, ENST00000684721

RefSeq mRNA: 10 — MANE Select: NM_148174 NM_001301668, NM_001363010, NM_001363011, NM_001363012, NM_001363013, NM_001363014, NM_001363024, NM_001363083, NM_015878, NM_148174

CCDS: CCDS6295, CCDS94325

Canonical transcript exons

ENST00000337198 — 12 exons

Exon	Start	End
ENSE00001019150	102834666	102834747
ENSE00001019156	102833056	102833218
ENSE00001019158	102834189	102834263
ENSE00001348650	102858013	102858150
ENSE00001424832	102826308	102828678
ENSE00002107290	102863807	102864163
ENSE00003560251	102829821	102829936
ENSE00003569552	102829272	102829486
ENSE00003672086	102839650	102839823
ENSE00003694856	102836256	102836390
ENSE00003694945	102843551	102843747
ENSE00003702186	102838744	102838916

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 250.0872 / max 2024.9428, expressed in 1828 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
94302	228.9720	1828
94301	21.1012	1813
94306	0.0087	4
94307	0.0053	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.35	gold quality
cortical plate	UBERON:0005343	99.09	gold quality
epithelium of bronchus	UBERON:0002031	98.82	gold quality
bronchus	UBERON:0002185	98.65	gold quality
ventricular zone	UBERON:0003053	98.46	gold quality
epithelium of nasopharynx	UBERON:0001951	98.18	gold quality
ganglionic eminence	UBERON:0004023	98.08	gold quality
colonic epithelium	UBERON:0000397	97.74	gold quality
cartilage tissue	UBERON:0002418	97.60	gold quality
placenta	UBERON:0001987	97.56	gold quality
bone marrow cell	CL:0002092	97.54	gold quality
jejunal mucosa	UBERON:0000399	97.50	gold quality
body of pancreas	UBERON:0001150	97.48	gold quality
caput epididymis	UBERON:0004358	97.47	gold quality
bone marrow	UBERON:0002371	97.46	gold quality
esophagus squamous epithelium	UBERON:0006920	97.28	gold quality
cauda epididymis	UBERON:0004360	97.24	gold quality
parotid gland	UBERON:0001831	97.23	gold quality
germinal epithelium of ovary	UBERON:0001304	97.20	gold quality
pancreas	UBERON:0001264	97.16	gold quality
sperm	CL:0000019	97.14	gold quality
calcaneal tendon	UBERON:0003701	97.11	gold quality
islet of Langerhans	UBERON:0000006	97.05	gold quality
adrenal tissue	UBERON:0018303	96.98	gold quality
trabecular bone tissue	UBERON:0002483	96.95	gold quality
stromal cell of endometrium	CL:0002255	96.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.75	gold quality
tibia	UBERON:0000979	96.72	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.67	gold quality
corpus epididymis	UBERON:0004359	96.66	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7008	no	693.72
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

285 targeting AZIN1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-548N	99.98	71.94	4170

Literature-anchored findings (GeneRIF, showing 16)

• This study also suggests that highly expressed AZI may be partly responsible for increased ODC activity and cellular transformation. (PMID:15670771)
• Decreased ornithine decarboxylase is associated with prostate cancer. (PMID:20215859)
• SNP rs2679757 in the AZIN1 gene is associated with the risk of HBV-related liver cirrhosis in Chinese patients. (PMID:21586232)
• minor allelic SNP variant in 12th exon of AZIN1 associated with slower rates of fibrosis progression favors expression of novel splice form, AZIN1 SV2, that inhibits expression of fibrogenic genes in hepatic stellate cells. (PMID:21837750)
• AZ_95-176 is the minimal AZ peptide that is fully functioning in the binding of ODC and AZI and inhibition of their function. (PMID:21931692)
• edited form has a stronger affinity to antizyme, and the resultant higher AZIN1 protein stability promotes cell proliferation through the neutralization of antizyme-mediated degradation of ornithine decarboxylase (ODC) and cyclin D1 (PMID:23291631)
• AZIN1 rs2679757 and TRPM5 rs886277 are associated with the risk of HBV-related liver cirrhosis in Chinese. (PMID:23844940)
• AzI1 fulfils an essential regulatory function in polyamine homeostasis and cell proliferation. (PMID:25813938)
• Data show the the interplay between the enzyme ornithine decarboxylase (ODC) and two regulatory proteins: antizyme (Az) and inhibitor (AzIN). (PMID:26305948)
• e in vivo experiment confirmed that this RNA editing confers higher capacity of tumor migration as well. In conclusion, antizyme inhibitor 1 RNA editing and its involvement in tumorigenesis of non-small-cell lung cancer pave a new way for potential clinical management of non-small-cell lung cancer. (PMID:28849733)
• Using high-resolution (1)H-NMR spectroscopy, we demonstrated that a long-looped quadruplex in the AZIN1 mRNA co-exists in salt-dependent equilibria with a hairpin structure. (PMID:30063205)
• AZIN1 RNA editing levels and ADAR1 expression were significantly elevated in gastric cancer tissues compared with matched normal mucosa. (PMID:30563560)
• Activation of AZIN1 RNA editing is associated with invasive potential of cancer-associated fibroblasts in colorectal cancer. (PMID:30583079)
• A novel mechanism for A-to-I RNA-edited AZIN1 in promoting tumor angiogenesis in colorectal cancer. (PMID:35365616)
• ADAR1 and AZIN1 RNA editing function as an oncogene and contributes to immortalization in endometrial cancer. (PMID:35697535)
• RNA editing of AZIN1 coding sites is catalyzed by ADAR1 p150 after splicing. (PMID:37209819)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	azin1b	ENSDARG00000035869
danio_rerio	azin1a	ENSDARG00000052789
mus_musculus	Azin1	ENSMUSG00000037458
rattus_norvegicus	Azin1	ENSRNOG00000005333
drosophila_melanogaster	Odc1	FBGN0013307
drosophila_melanogaster	Odc2	FBGN0013308
caenorhabditis_elegans	F53F10.2	WBGENE00018764

Paralogs (2): ODC1 (ENSG00000115758), AZIN2 (ENSG00000142920)

Protein

Protein identifiers

Antizyme inhibitor 1 — O14977 (reviewed: O14977)

Alternative names: Ornithine decarboxylase antizyme inhibitor

All UniProt accessions (8): O14977, A0A804HIJ4, A0A804HKE3, A0A804HKI3, A0A804HLH4, E5RIB7, E5RJ16, U3KQI8

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.

Subunit / interactions. Monomer. Interacts with OAZ1 and OAZ3; this interaction disrupts the interaction between the antizyme and ODC1.

Subcellular location. Nucleus.

Tissue specificity. Expressed in liver.

Post-translational modifications. Ubiquitinated, leading to its proteasomal degradation; a process that is reduced in presence of antizyme OAZ1.

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

RefSeq proteins (10): NP_001288597, NP_001349939, NP_001349940, NP_001349941, NP_001349942, NP_001349943, NP_001349953, NP_001350012, NP_056962, NP_680479* (*=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
IPR022657	De-COase2_CS	Conserved_site
IPR029066	PLP-binding_barrel	Homologous_superfamily
IPR031178	Azin1	Family

Pfam: PF02784

UniProt features (3 total): chain 1, site 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4ZGZ	X-RAY DIFFRACTION	5.81

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14977-F1	88.58	0.74

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): 69 (not modified)

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-350562	Regulation of ornithine decarboxylase (ODC)
R-HSA-1430728	Metabolism
R-HSA-351202	Metabolism of polyamines
R-HSA-71291	Metabolism of amino acids and derivatives

MSigDB gene sets: 344 (showing top): GGGACCA_MIR133A_MIR133B, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, TAATAAT_MIR126, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AP4_Q6, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, ATGTTAA_MIR302C, GOBP_POLYAMINE_METABOLIC_PROCESS, MORF_SKP1A, YGACNNYACAR_UNKNOWN

GO Biological Process (4): obsolete putrescine biosynthetic process from arginine, via ornithine (GO:0033387), negative regulation of protein catabolic process (GO:0042177), positive regulation of polyamine transmembrane transport (GO:1902269), polyamine biosynthetic process (GO:0006596)

GO Molecular Function (4): ornithine decarboxylase activity (GO:0004586), ornithine decarboxylase activator activity (GO:0042978), catalytic activity (GO:0003824), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

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	2
negative regulation of catabolic process	1
protein catabolic process	1
regulation of protein catabolic process	1
negative regulation of protein metabolic process	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
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1932 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AZIN1	OAZ3	Q9UMX2	943
AZIN1	OAZ2	O95190	941
AZIN1	OAZ1	P54368	941
AZIN1	ADAR	P55265	661
AZIN1	COG3	Q96JB2	645
AZIN1	BLCAP	P62952	627
AZIN1	GRIA2	P42262	625
AZIN1	SMOX	Q9NWM0	623
AZIN1	NEIL1	Q96FI4	608
AZIN1	RHOQ	P17081	589
AZIN1	CCNI	Q14094	580
AZIN1	SMS	P52788	561
AZIN1	SRM	P19623	555
AZIN1	ADARB2	Q9NS39	542
AZIN1	ADSS1	Q8N142	523

IntAct

23 interactions, top by confidence:

A	B	Type	Score
AZIN1	OAZ3	psi-mi:“MI:0915”(physical association)	0.800
OAZ3	AZIN1	psi-mi:“MI:0914”(association)	0.800
AZIN1	OAZ2	psi-mi:“MI:0914”(association)	0.670
OAZ1	AZIN1	psi-mi:“MI:0914”(association)	0.640
BMAL1	AZIN1	psi-mi:“MI:0915”(physical association)	0.560
AZIN1	OAZ3	psi-mi:“MI:0915”(physical association)	0.560
AZIN1		psi-mi:“MI:0915”(physical association)	0.370
CDKN2A	AZIN1	psi-mi:“MI:0915”(physical association)	0.370
ABCC2	AZIN1	psi-mi:“MI:0915”(physical association)	0.370
KHDRBS1	AZIN1	psi-mi:“MI:0915”(physical association)	0.370
ADSS1	AZIN1	psi-mi:“MI:0915”(physical association)	0.370
AZIN1	KIF5C	psi-mi:“MI:0914”(association)	0.350
OAZ2	AZIN1	psi-mi:“MI:0915”(physical association)	0.000
BMAL1	AZIN1	psi-mi:“MI:0915”(physical association)	0.000
OAZ3	AZIN1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (44): OAZ3 (Two-hybrid), KIF5B (Affinity Capture-MS), KIF5C (Affinity Capture-MS), KLC1 (Affinity Capture-MS), KLC2 (Affinity Capture-MS), KLC4 (Affinity Capture-MS), TDP2 (Affinity Capture-MS), MSRB3 (Affinity Capture-MS), OAZ1 (Affinity Capture-MS), OAZ2 (Affinity Capture-MS), AZIN1 (Reconstituted Complex), AZIN1 (Reconstituted Complex), AZIN1 (Affinity Capture-MS), AZIN1 (Affinity Capture-MS), OAZ1 (Affinity Capture-MS)

ESM2 similar proteins: A1E9I4, A1E9R7, A1EA01, A2T321, A6H5F6, A7M8Z3, A8W3H9, A8Y9G3, A9QC56, B0YPM1, B1VKH6, F4JJJ3, O14977, O35484, O60774, O78482, P06354, P06360, P0C480, P0C481, P0C482, P16037, P17933, P41605, P41652, P51249, Q06FX2, Q19VA1, Q1ACN3, Q1XDN8, Q32RQ0, Q32RY1, Q5R7K3, Q5SCY1, Q63764, Q6ENI1, Q6ENX0, Q6KGX3, Q6L3A4, Q6YXJ9

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2041 predictions. Top by Δscore:

Variant	Effect	Δscore
8:102828676:TACCT:T	acceptor_loss	1.0000
8:102828677:ACCTA:A	acceptor_loss	1.0000
8:102829353:C:CA	donor_gain	1.0000
8:102829932:TTCTA:T	acceptor_gain	1.0000
8:102829933:TCTA:T	acceptor_loss	1.0000
8:102829934:CTA:C	acceptor_gain	1.0000
8:102829935:TA:T	acceptor_gain	1.0000
8:102829935:TAC:T	acceptor_loss	1.0000
8:102829936:ACT:A	acceptor_loss	1.0000
8:102829937:C:CC	acceptor_gain	1.0000
8:102829937:C:T	acceptor_loss	1.0000
8:102829938:T:A	acceptor_loss	1.0000
8:102829942:A:AC	acceptor_gain	1.0000
8:102829942:A:C	acceptor_gain	1.0000
8:102829948:C:CT	acceptor_gain	1.0000
8:102829949:A:T	acceptor_gain	1.0000
8:102834183:GTTTA:G	donor_loss	1.0000
8:102834186:TACCT:T	donor_loss	1.0000
8:102834187:A:AG	donor_loss	1.0000
8:102834259:TCTCC:T	acceptor_gain	1.0000
8:102834260:CTCC:C	acceptor_gain	1.0000
8:102834260:CTCCC:C	acceptor_gain	1.0000
8:102834261:TCCCT:T	acceptor_gain	1.0000
8:102834262:CC:C	acceptor_gain	1.0000
8:102834263:CC:C	acceptor_gain	1.0000
8:102834264:C:CC	acceptor_gain	1.0000
8:102834264:CTA:C	acceptor_loss	1.0000
8:102834265:T:A	acceptor_loss	1.0000
8:102834664:A:AC	donor_gain	1.0000
8:102834664:ACAG:A	donor_gain	1.0000

AlphaMissense

3005 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:102829454:G:C	S351R	0.996
8:102829454:G:T	S351R	0.996
8:102829456:T:G	S351R	0.996
8:102829371:A:G	L379P	0.995
8:102829375:A:G	W378R	0.995
8:102829375:A:T	W378R	0.995
8:102834689:C:G	A215P	0.995
8:102833112:A:G	L283P	0.994
8:102836263:C:A	G193W	0.994
8:102839665:A:C	F87L	0.993
8:102839665:A:T	F87L	0.993
8:102839667:A:G	F87L	0.993
8:102829371:A:T	L379H	0.992
8:102829398:A:G	L370P	0.992
8:102829444:C:G	G355R	0.992
8:102829449:A:T	L353H	0.992
8:102829901:A:C	Y314D	0.992
8:102834235:A:G	L232S	0.992
8:102836262:C:T	G193E	0.992
8:102839763:A:G	W55R	0.992
8:102839763:A:T	W55R	0.992
8:102833095:C:G	A289P	0.991
8:102829443:C:T	G355D	0.990
8:102833109:G:T	A284E	0.990
8:102834688:G:T	A215D	0.990
8:102829389:A:G	L373P	0.989
8:102829449:A:G	L353P	0.989
8:102838848:C:A	K115N	0.989
8:102838848:C:G	K115N	0.989
8:102839659:A:C	C89W	0.989

dbSNP variants (sampled 300 via entrez): RS1000037179 (8:102838175 A>T), RS1000048171 (8:102851572 G>A,C), RS1000111784 (8:102828770 A>G,T), RS1000135340 (8:102850786 C>T), RS1000205775 (8:102831970 T>C,G), RS1000290299 (8:102827131 A>G), RS1000343292 (8:102857395 T>C), RS1000364238 (8:102847657 C>G), RS1000412383 (8:102841434 G>A), RS1000538269 (8:102846396 C>A), RS1000708271 (8:102835138 A>G), RS1000809628 (8:102833273 A>G), RS1001057304 (8:102852772 G>A), RS1001113969 (8:102830402 A>C), RS1001164367 (8:102858259 A>C)

Disease associations

OMIM: gene MIM:607909 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST002500_65	QT interval	3.000000e-09
GCST002941_1	Airway imaging phenotypes	3.000000e-07
GCST004613_121	Sum neutrophil eosinophil counts	1.000000e-09
GCST004614_50	Granulocyte count	1.000000e-09
GCST004620_19	Sum basophil neutrophil counts	3.000000e-09
GCST004629_127	Neutrophil count	4.000000e-09
GCST007930_77	Medication use (agents acting on the renin-angiotensin system)	4.000000e-08
GCST008161_21	Waist circumference adjusted for body mass index	6.000000e-06
GCST010241_427	Apolipoprotein A1 levels	4.000000e-12
GCST010242_16	HDL cholesterol levels	6.000000e-17
GCST010320_44	PR interval	3.000000e-08
GCST010346_20	TPE interval (resting)	3.000000e-13
GCST010346_46	TPE interval (resting)	9.000000e-06
GCST010346_56	TPE interval (resting)	1.000000e-08
GCST90002387_327	Immature fraction of reticulocytes	4.000000e-20
GCST90002395_14	Mean platelet volume	6.000000e-12
GCST90002396_434	Mean reticulocyte volume	8.000000e-11
GCST90002397_346	Mean spheric corpuscular volume	4.000000e-13
GCST90002407_512	White blood cell count	3.000000e-20
GCST90011900_199	Serum alkaline phosphatase levels	2.000000e-10

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0007627	airway imaging measurement
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004462	PR interval
EFO:0004644	TPE interval measurement
EFO:0010701	mean reticulocyte volume
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

58 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects expression, decreases expression	3
bisphenol A	increases methylation, increases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation	2
Carbamazepine	affects expression	2
Ozone	affects expression, affects cotreatment, increases oxidation, increases abundance	2
Cyclosporine	increases expression	2
GSK-J4	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pirinixic acid	affects binding, increases activity, increases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
zinc chromate	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
nickel sulfate	decreases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
PCI 5002	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1KV	Abcam HeLa AZIN1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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