AZGP1

Summary

AZGP1 (alpha-2-glycoprotein 1, zinc-binding, HGNC:910) is a protein-coding gene on chromosome 7q22.1, encoding Zinc-alpha-2-glycoprotein (P25311). Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers.

Predicted to enable RNA nuclease activity and protein transmembrane transporter activity. Involved in cell adhesion and detection of chemical stimulus involved in sensory perception of bitter taste. Located in extracellular space. Implicated in prostate carcinoma. Biomarker of several diseases, including gastrointestinal system cancer (multiple); kidney failure (multiple); liver cirrhosis; lung adenocarcinoma; and obesity.

Source: NCBI Gene 563 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 52 total
• MANE Select transcript: NM_001185

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:910
Approved symbol	AZGP1
Name	alpha-2-glycoprotein 1, zinc-binding
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	ZA2G, ZAG
Ensembl gene	ENSG00000160862
Ensembl biotype	protein_coding
OMIM	194460
Entrez	563

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 14 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000292401, ENST00000411734, ENST00000419575, ENST00000477251, ENST00000483612, ENST00000495765, ENST00000868282, ENST00000868283, ENST00000868284, ENST00000868285, ENST00000868286, ENST00000868287, ENST00000868288, ENST00000868289, ENST00000868290, ENST00000868291, ENST00000868292

RefSeq mRNA: 1 — MANE Select: NM_001185 NM_001185

CCDS: CCDS5680

Canonical transcript exons

ENST00000292401 — 4 exons

Exon	Start	End
ENSE00001055051	99971746	99972006
ENSE00001820318	99966730	99967286
ENSE00001907842	99975945	99976031
ENSE00002517485	99968155	99968430

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5999 / max 1077.9284, expressed in 122 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85132	0.8898	50
85133	0.4892	94
85129	0.1644	30
85131	0.0312	11
85130	0.0252	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	99.92	gold quality
right lobe of liver	UBERON:0001114	99.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.76	gold quality
trachea	UBERON:0003126	99.69	gold quality
body of pancreas	UBERON:0001150	99.53	gold quality
mammary duct	UBERON:0001765	99.40	gold quality
epithelium of mammary gland	UBERON:0003244	99.19	gold quality
upper arm skin	UBERON:0004263	98.93	gold quality
liver	UBERON:0002107	98.83	gold quality
skin of leg	UBERON:0001511	98.80	gold quality
upper leg skin	UBERON:0004262	98.61	gold quality
saliva-secreting gland	UBERON:0001044	98.51	gold quality
skin of abdomen	UBERON:0001416	98.35	gold quality
mammary gland	UBERON:0001911	98.25	gold quality
zone of skin	UBERON:0000014	98.23	gold quality
thoracic mammary gland	UBERON:0005200	98.23	gold quality
prostate gland	UBERON:0002367	98.18	gold quality
minor salivary gland	UBERON:0001830	98.14	gold quality
urethra	UBERON:0000057	97.11	gold quality
nipple	UBERON:0002030	97.06	gold quality
nasal cavity mucosa	UBERON:0001826	96.73	gold quality
adult mammalian kidney	UBERON:0000082	96.69	gold quality
tibial nerve	UBERON:0001323	96.37	gold quality
heart left ventricle	UBERON:0002084	96.25	gold quality
cardiac ventricle	UBERON:0002082	96.09	gold quality
pancreas	UBERON:0001264	95.50	gold quality
apex of heart	UBERON:0002098	95.34	gold quality
penis	UBERON:0000989	95.00	gold quality
adult organism	UBERON:0007023	94.96	gold quality
mammalian vulva	UBERON:0000997	94.61	gold quality

Single-cell (SCXA)

Detected in 24 experiment(s), a significant marker in 22.

Experiment	Marker?	Max mean expression
E-MTAB-9841	yes	8491.79
E-MTAB-10855	yes	4594.54
E-HCAD-1	yes	3382.98
E-HCAD-9	yes	3268.70
E-GEOD-130473	yes	1944.50
E-ANND-2	yes	1925.78
E-MTAB-10885	yes	1853.72
E-CURD-11	yes	1596.38
E-MTAB-9906	yes	1591.03
E-CURD-114	yes	1283.97
E-CURD-7	yes	1093.74
E-ENAD-21	yes	1093.74
E-MTAB-8142	yes	1075.62
E-GEOD-125970	yes	830.84
E-MTAB-10553	yes	35.93

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, GATA2

miRNA regulators (miRDB)

22 targeting AZGP1, 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-4692	100.00	67.32	2066
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-3146	98.85	66.77	601
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-934	98.49	70.44	581
HSA-MIR-6757-5P	98.08	65.50	724
HSA-MIR-943	97.81	64.42	694
HSA-MIR-10400-3P	97.29	64.66	597
HSA-MIR-4674	97.29	64.62	597

Literature-anchored findings (GeneRIF, showing 40)

• ZAG gene expression and protein were detected in human adipose tissue. (PMID:14983038)
• x-ray crystallographic analysis of ligand binding by Zn-alpha2-glycoprotein (PMID:15477100)
• Human adipocytes express and secrete ZAG, with ZAG expression being regulated particularly through TNF-alpha and the PPARgamma nuclear receptor. (PMID:15620688)
• Arg-73 projects into one end of the binding groove and is the sole charged amino acid adjacent to the ligand. Replacing this amino acid with alanine abolished ligand binding and closed the groove to solvent. (PMID:16475792)
• This study characterized ZAG protein (AZGP1) expression in prostate cancer using a semi-automated system. ZAG expression level found to have an independent prognostic value for pT2 patients. (PMID:16598739)
• Elevated mRNA levels of AZGP1 is associated with lung adenocarcinoma (PMID:17724461)
• A review of the major aspects of ZAG from its gene structure to function and metabolism. (PMID:18567794)
• this novel adipokine could play a role in human susceptibility to obesity related disorders (PMID:18663996)
• analysis of the novel complex formed between zinc alpha2-glycoprotein (ZAG) and prolactin-inducible protein (PIP) from human seminal plasma (PMID:18930737)
• Overexpression of AZGP1 is associated with lung adenocarcinoma. (PMID:18978557)
• In the context that AZGP1 is involved in lipolysis and fat loss, its overexpression in the airway epithelium of chronic smokers may represent one mechanism for the weight difference in smokers vs. nonsmokers. (PMID:19188554)
• ZAG might be involved in the pathogenesis of obesity-related metabolic disorders. (PMID:19351730)
• expression in adipose tissue downregulated with increased adiposity and circulating insulin (PMID:19549246)
• Down-regulation of ZAG in in adipose tissue and liver exists in obese patients but is not related to insulin resistance. (PMID:19622624)
• The present study provides evidence of a role of ZAG gene in adipose tissue metabolism (PMID:19846741)
• Treatment with TNFalpha reduced Zag gene expression in differentiated adipocytes. (PMID:19934249)
• Zn-alpha2-glycoprotein genotype and serum levels are associated with serum lipids. (PMID:20070991)
• PCR array analysis revealed that AZGP1-induced epithelial transdifferentiation was accompanied by a series of concerted cellular events including a shift in the energy metabolism and prosurvival signals (PMID:20581862)
• Macrophage-associated inflammation may play a significant role in the downregulation of ZAG in adipose tissue in obesity. (PMID:20595026)
• results indicate ZAG as a possible predictive marker of Gleason grade. The inverse association between grade and tissue expression with a rising serum protein level is similar to that seen with prostate-specific antigen. In addition, the results for both ZAG and PSMB-6 highlight the challenges in trying to associate the protein levels in serum with tissue expression (PMID:20661134)
• REsults suggest both a relationship between ZAG expression and pathways involving adipokines or estrogen and that ZAG may be a potential breast cancer biomarker. (PMID:20683033)
• ZAG may contribute to adipose atrophy associated with cancer cachexia in human beings. (PMID:21245862)
• AZGP1 is a potential molecular marker for biochemical relapse in men with margin-positive, localized PC. (PMID:21432866)
• AZGP1 identified as a biomarker candidate for chronic pancreatitis. (PMID:21443201)
• The adipokine zinc-alpha2-glycoprotein activates AMP kinase in human primary skeletal muscle cells. (PMID:21457004)
• These results indicate that ZAG, which is present on the human sperm membrane, plays a critical role in the acrosome reaction and subsequently, may be involved in sperm fertility. (PMID:21790656)
• High serum Zn-alpha-2-glycoprotein is associated with preeclampsia. (PMID:21791968)
• The genotypes of rs4215 in ZAG gene are significantly associated with obesity in Chinese north Han population. GG genotype subjects in rs4215 site have an increased susceptibility to obesity when compared with the AA+AG genotype subjects. (PMID:22425975)
• ZAG could be involved in modulating lipid metabolism in adipose tissue and is associated with insulin resistance. (PMID:22442679)
• Urinary PGDS, not ZA2G, may serve as a biomarker for active LN and upon validation in larger studies, may become the non-invasive test to evaluate the disease activity in future management of LN. (PMID:22498882)
• HCC patients with high AZGP1 expression survived longer, with better overall survival and disease-free survival. In addition, low AZGP1 expression associated with worse relapse-free survival (P = 0.046) and distant metastatic progression-free survival (PMID:22625427)
• Reduced expression of AZGP1 led to a significant increase in the expression of lipogenic genes, thereby resulting in higher lipid levels. (PMID:22739111)
• prostate ZAG staining correlated with a favorable outcome after prostatectomy for high-grade prostate cancer. (PMID:22935975)
• cbZAG is lower in cord blood compared with maternal serum and correlates with gestational age at delivery, suggesting a role during the accelerated fetal growth during latter pregnancy (PMID:23272038)
• Our data showed that the elevated AZGP1 and decreased PEDF and PRDX2 expressions in CRC serum and tissues were correlated with liver metastases. higher AZGP1 was also associated with a poorer disease-free survival. (PMID:23393224)
• Overproduction of ZAG in white adipose tissue in chronic kidney disease could be a major contributor to metabolic disturbances associated with CKD. (PMID:23423258)
• In cancer cachexia, ZAG release from white adipocytes is elevated and closely related to body weight loss. In cardiac cachexia, ZAG and circulating free fatty acids are closely related, suggesting a causative role in fat catabolism. [Review] (PMID:23448999)
• High urine zinc alpha2-glycoprotein expression is associated with prostate cancer. (PMID:23634719)
• Circulating AZGP1 is elevated in chronic hemodialysis patients and sharply increases during the early phase of acute kidney injury. (PMID:23849457)
• AZGP1 might serve as a candidate tumor suppressor and a potential prognostic biomarker in gastric carcinogenesis. (PMID:23935945)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mhc1uma	ENSDARG00000039164
danio_rerio		ENSDARG00000059039
danio_rerio	mhc1uba	ENSDARG00000075963
danio_rerio	mhc1uka	ENSDARG00000092731
mus_musculus	Azgp1	ENSMUSG00000037053
rattus_norvegicus	Azgp1	ENSRNOG00000001333

Paralogs (22): HFE (ENSG00000010704), FCGRT (ENSG00000104870), ULBP1 (ENSG00000111981), ULBP2 (ENSG00000131015), ULBP3 (ENSG00000131019), MR1 (ENSG00000153029), RAET1L (ENSG00000155918), CD1D (ENSG00000158473), CD1A (ENSG00000158477), CD1C (ENSG00000158481), CD1B (ENSG00000158485), CD1E (ENSG00000158488), RAET1E (ENSG00000164520), RAET1G (ENSG00000203722), MICB (ENSG00000204516), MICA (ENSG00000204520), HLA-C (ENSG00000204525), HLA-E (ENSG00000204592), HLA-G (ENSG00000204632), HLA-F (ENSG00000204642), HLA-A (ENSG00000206503), HLA-B (ENSG00000234745)

Protein

Protein identifiers

Zinc-alpha-2-glycoprotein — P25311 (reviewed: P25311)

All UniProt accessions (4): P25311, A0A140VK00, C9JEV0, H7BZJ8

UniProt curated annotations — full annotation on UniProt →

Function. Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids.

Subunit / interactions. Interacts with PIP.

Subcellular location. Secreted.

Tissue specificity. Blood plasma, seminal plasma, urine, saliva, sweat, epithelial cells of various human glands, liver.

Post-translational modifications. N-glycosylated. N-glycan at Asn-128: Hex5HexNAc4.

Similarity. Belongs to the MHC class I family.

RefSeq proteins (1): NP_001176* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001039	MHC_I_a_a1/a2	Domain
IPR003006	Ig/MHC_CS	Conserved_site
IPR003597	Ig_C1-set	Domain
IPR007110	Ig-like_dom	Domain
IPR011161	MHC_I-like_Ag-recog	Domain
IPR011162	MHC_I/II-like_Ag-recog	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR037055	MHC_I-like_Ag-recog_sf	Homologous_superfamily
IPR050208	MHC_class-I_related	Family

Pfam: PF00129, PF07654

UniProt features (44 total): strand 19, sequence conflict 6, helix 6, glycosylation site 4, turn 3, disulfide bond 2, signal peptide 1, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
1T7V	X-RAY DIFFRACTION	1.95
1T80	X-RAY DIFFRACTION	2.1
6R2U	X-RAY DIFFRACTION	2.49
1T7W	X-RAY DIFFRACTION	2.7
1T7Y	X-RAY DIFFRACTION	2.8
1ZAG	X-RAY DIFFRACTION	2.8
1T7Z	X-RAY DIFFRACTION	3
1T7X	X-RAY DIFFRACTION	3.1
3ES6	X-RAY DIFFRACTION	3.23

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P25311-F1	93.26	0.89

Functional residue map

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

Post-translational modifications (1): 21

Disulfide bonds (2): 123–186, 225–280

Glycosylation sites (4): 109, 112, 128, 259

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5223345	Miscellaneous transport and binding events

MSigDB gene sets: 184 (showing top): GOMF_RNA_NUCLEASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOMF_NUCLEASE_ACTIVITY, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOCC_CELL_SURFACE, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_VIA_MHC_CLASS_IB, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, CHANDRAN_METASTASIS_DN, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_POSITIVE_REGULATION_OF_T_CELL_MEDIATED_CYTOTOXICITY, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_75, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY

GO Biological Process (8): detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580), positive regulation of T cell mediated cytotoxicity (GO:0001916), antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476), antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent (GO:0002486), immune response (GO:0006955), cell adhesion (GO:0007155), negative regulation of cell population proliferation (GO:0008285), protein transmembrane transport (GO:0071806)

GO Molecular Function (3): RNA nuclease activity (GO:0004540), transmembrane protein transporter activity (GO:0008320), protein binding (GO:0005515)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), external side of plasma membrane (GO:0009897), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
detection of chemical stimulus involved in sensory perception of taste	1
sensory perception of bitter taste	1
positive regulation of leukocyte mediated cytotoxicity	1
T cell mediated cytotoxicity	1
regulation of T cell mediated cytotoxicity	1
positive regulation of T cell mediated immunity	1
antigen processing and presentation of peptide antigen via MHC class Ib	1
antigen processing and presentation of endogenous peptide antigen	1
antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway	1
immune system process	1
response to stimulus	1
cellular process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
protein transport	1
transmembrane transport	1
nuclease activity	1
catalytic activity, acting on RNA	1
macromolecule transmembrane transporter activity	1
protein transmembrane transport	1
protein transporter activity	1
binding	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
plasma membrane	1
cell surface	1
side of membrane	1
extracellular vesicle	1

Protein interactions and networks

STRING

1678 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AZGP1	PIP	P12273	982
AZGP1	GC	P02774	797
AZGP1	KLK3	P07288	766
AZGP1	HP	P00737	732
AZGP1	ORM1	P02763	718
AZGP1	RBP4	P02753	713
AZGP1	AHSG	P02765	704
AZGP1	ORM2	P19652	686
AZGP1	APOD	P05090	683
AZGP1	CST4	P01036	673
AZGP1	ADRB3	P13945	662
AZGP1	ALB	P02768	660
AZGP1	HPX	P02790	657
AZGP1	PIGR	P01833	656
AZGP1	APOA1	P02647	639

IntAct

161 interactions, top by confidence:

A	B	Type	Score
FANCG	FANCA	psi-mi:“MI:0914”(association)	0.960
CDK19	MED7	psi-mi:“MI:0914”(association)	0.800
TNIP1	NFKB1	psi-mi:“MI:0914”(association)	0.790
IFT88	IFT56	psi-mi:“MI:0914”(association)	0.640
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
ALDH3A1	RCCD1	psi-mi:“MI:0914”(association)	0.640
AZGP1	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
AZGP1	BRAF	psi-mi:“MI:0915”(physical association)	0.550
AZGP1	BRAF	psi-mi:“MI:2364”(proximity)	0.550
PRNP	AZGP1	psi-mi:“MI:0915”(physical association)	0.540
PRNP	AZGP1	psi-mi:“MI:0403”(colocalization)	0.540
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
DDX31	IGLL5	psi-mi:“MI:0914”(association)	0.530
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
MMRN1	CTSV	psi-mi:“MI:0914”(association)	0.530
ZIC1	CTSV	psi-mi:“MI:0914”(association)	0.530
PHAF1	PSMG1	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
Ikbip	LTF	psi-mi:“MI:0915”(physical association)	0.400
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
AZGP1	ABCC1	psi-mi:“MI:0915”(physical association)	0.370
NUF2	AZGP1	psi-mi:“MI:0915”(physical association)	0.370
	AZGP1	psi-mi:“MI:0915”(physical association)	0.370
AZGP1		psi-mi:“MI:0915”(physical association)	0.370
STK4	IGHA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (160): AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS), AZGP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K7V7, C1ITJ8, O08602, O08603, O08604, O19477, O35799, P01901, P01902, P06339, P13599, P14427, P14432, P16391, P25311, P26151, P30383, P55899, P60018, P70387, Q01965, Q29980, Q29983, Q2KN22, Q30201, Q3B8P2, Q5RD09, Q60I18, Q61559, Q63678, Q64726, Q6H3X3, Q8HWB0, Q8HWE5, Q8HWE7, Q8SPV9, Q8VD31, Q920A9, Q95460, Q9BCU3

Diamond homologs: C1ITJ8, O19477, O35799, P01888, P01889, P01893, P01894, P01895, P01896, P01897, P01898, P01899, P01900, P01901, P01902, P03991, P04223, P04439, P06126, P06140, P06339, P10321, P13747, P13748, P13749, P13750, P13751, P13752, P13753, P13765, P14426, P14427, P14428, P14429, P14430, P14431, P14432, P15464, P15978, P15979

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

844 predictions. Top by Δscore:

Variant	Effect	Δscore
7:99967283:GGAT:G	acceptor_gain	1.0000
7:99967286:TC:T	acceptor_loss	1.0000
7:99967287:C:CA	acceptor_loss	1.0000
7:99967287:C:CC	acceptor_gain	1.0000
7:99968151:GTACC:G	donor_loss	1.0000
7:99968152:TACCT:T	donor_loss	1.0000
7:99968153:ACC:A	donor_loss	1.0000
7:99968158:G:A	donor_gain	1.0000
7:99971742:TGA:T	donor_loss	1.0000
7:99971744:ACCGT:A	donor_loss	1.0000
7:99971745:C:CG	donor_loss	1.0000
7:99971750:A:AC	donor_gain	1.0000
7:99971751:C:CC	donor_gain	1.0000
7:99971767:C:CA	donor_gain	1.0000
7:99972003:CGAC:C	acceptor_gain	1.0000
7:99972004:GACC:G	acceptor_loss	1.0000
7:99972005:ACCT:A	acceptor_loss	1.0000
7:99972006:CCTG:C	acceptor_loss	1.0000
7:99967282:AGGAT:A	acceptor_gain	0.9900
7:99967284:GAT:G	acceptor_gain	0.9900
7:99967289:G:C	acceptor_gain	0.9900
7:99967289:G:GC	acceptor_gain	0.9900
7:99971739:CACT:C	donor_loss	0.9900
7:99971740:A:AC	donor_gain	0.9900
7:99971741:C:CC	donor_gain	0.9900
7:99971744:A:AC	donor_gain	0.9900
7:99971745:C:CC	donor_gain	0.9900
7:99971745:CCG:C	donor_gain	0.9900
7:99971766:TC:T	donor_gain	0.9900
7:99971767:CC:C	donor_gain	0.9900

AlphaMissense

1957 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:99968306:C:A	W154C	0.995
7:99968306:C:G	W154C	0.995
7:99968264:C:A	W168C	0.994
7:99968264:C:G	W168C	0.994
7:99968308:A:G	W154R	0.993
7:99968308:A:T	W154R	0.993
7:99968400:C:G	C123S	0.993
7:99968401:A:T	C123S	0.993
7:99967210:G:C	F230L	0.990
7:99967210:G:T	F230L	0.990
7:99967212:A:G	F230L	0.990
7:99968328:A:G	F147S	0.990
7:99968211:C:G	C186S	0.989
7:99968212:A:T	C186S	0.989
7:99967226:C:G	C225S	0.987
7:99967227:A:T	C225S	0.987
7:99968327:G:C	F147L	0.987
7:99968327:G:T	F147L	0.987
7:99968329:A:G	F147L	0.987
7:99971942:A:C	F47L	0.987
7:99971942:A:T	F47L	0.987
7:99971944:A:G	F47L	0.987
7:99968401:A:G	C123R	0.986
7:99968212:A:G	C186R	0.984
7:99967061:C:G	C280S	0.983
7:99967062:A:T	C280S	0.983
7:99968400:C:T	C123Y	0.983
7:99968273:C:A	K165N	0.982
7:99968273:C:G	K165N	0.982
7:99968266:A:G	W168R	0.981

dbSNP variants (sampled 300 via entrez): RS1000118944 (7:99966241 G>T), RS1000380342 (7:99977007 C>T), RS1000557842 (7:99976673 C>A,T), RS1001514011 (7:99976439 T>C,G), RS1001526744 (7:99967577 G>A), RS1001988718 (7:99973934 A>G), RS1002131571 (7:99968871 G>A), RS1002241558 (7:99969865 C>G), RS1002356146 (7:99970129 A>T), RS1002505095 (7:99968555 T>A,C), RS1003446286 (7:99972318 G>A), RS1003523476 (7:99973907 A>C,G,T), RS1003959109 (7:99976126 G>T), RS1003988844 (7:99976391 C>G), RS1004172149 (7:99971148 T>C)

Disease associations

OMIM: gene MIM:194460 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004601_99	Red blood cell count	5.000000e-12
GCST010002_259	Refractive error	3.000000e-16
GCST010702_48	Subcortical volume (MOSTest)	6.000000e-10
GCST010703_289	Brain morphology (MOSTest)	6.000000e-15

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004305	erythrocyte count
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	3
Tetrachlorodibenzodioxin	increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
Cyclosporine	decreases expression, increases expression	3
Air Pollutants	increases abundance, increases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Doxorubicin	decreases expression	2
Nickel	decreases expression	2
Aflatoxin B1	decreases expression, affects expression	2
methyleugenol	decreases expression	1
bisphenol A	decreases expression	1
nuciferine	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
testosterone undecanoate	affects cotreatment, decreases expression	1
trichostatin A	decreases reaction, increases expression	1
sodium arsenite	decreases expression	1
hydroquinone	increases expression	1
2,3-dimethoxy-1,4-naphthoquinone	decreases expression	1
10-(fluoroethoxyphosphinyl)-N-(biotinamidopentyl)decanamide	affects binding	1
enzalutamide	decreases expression	1
Decitabine	decreases reaction, increases expression	1
Arsenic Trioxide	decreases expression	1
Antimony	decreases expression	1
Antimony Potassium Tartrate	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Cadmium	affects binding	1
Calcitriol	increases expression	1
Chromium	decreases expression	1
Coal	increases abundance, increases expression	1
Copper	affects binding	1

Clinical trials (associated diseases)

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