QSOX2

Summary

QSOX2 (quiescin sulfhydryl oxidase 2, HGNC:30249) is a protein-coding gene on chromosome 9q34.3, encoding Sulfhydryl oxidase 2 (Q6ZRP7). Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide.

QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).

Source: NCBI Gene 169714 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_181701

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30249
Approved symbol	QSOX2
Name	quiescin sulfhydryl oxidase 2
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	SOXN, DKFZp762A2013
Ensembl gene	ENSG00000165661
Ensembl biotype	protein_coding
OMIM	612860
Entrez	169714

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000358701, ENST00000455222, ENST00000706609, ENST00000706610, ENST00000706611

RefSeq mRNA: 1 — MANE Select: NM_181701 NM_181701

CCDS: CCDS35178

Canonical transcript exons

ENST00000358701 — 12 exons

Exon	Start	End
ENSE00001095174	136221796	136221941
ENSE00001095176	136223763	136223853
ENSE00001095187	136215154	136215304
ENSE00001126169	136224007	136224112
ENSE00001335707	136224861	136224909
ENSE00001400239	136218679	136218808
ENSE00001423025	136216600	136216722
ENSE00001505951	136219030	136219164
ENSE00001728651	136206333	136209275
ENSE00002364200	136226774	136226874
ENSE00002729628	136245476	136245812
ENSE00003789960	136211264	136211452

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 97.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0679 / max 229.1759, expressed in 1753 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103141	15.0555	1753
103138	0.0124	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.70	gold quality
oocyte	CL:0000023	90.34	gold quality
pituitary gland	UBERON:0000007	90.08	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.60	gold quality
adenohypophysis	UBERON:0002196	89.56	gold quality
tibia	UBERON:0000979	89.43	gold quality
cerebellar hemisphere	UBERON:0002245	89.32	gold quality
cerebellar cortex	UBERON:0002129	89.24	gold quality
cerebellum	UBERON:0002037	88.78	gold quality
islet of Langerhans	UBERON:0000006	86.17	gold quality
body of pancreas	UBERON:0001150	85.00	gold quality
pancreas	UBERON:0001264	84.89	gold quality
ganglionic eminence	UBERON:0004023	84.38	gold quality
middle temporal gyrus	UBERON:0002771	84.11	gold quality
left ventricle myocardium	UBERON:0006566	83.75	gold quality
ventricular zone	UBERON:0003053	83.54	gold quality
cardiac muscle of right atrium	UBERON:0003379	83.35	gold quality
lymph node	UBERON:0000029	83.13	gold quality
spleen	UBERON:0002106	82.90	gold quality
trabecular bone tissue	UBERON:0002483	82.56	gold quality
cerebellar vermis	UBERON:0004720	82.42	silver quality
stromal cell of endometrium	CL:0002255	81.81	gold quality
cartilage tissue	UBERON:0002418	81.62	gold quality
right lobe of thyroid gland	UBERON:0001119	81.53	gold quality
vermiform appendix	UBERON:0001154	81.41	gold quality
left lobe of thyroid gland	UBERON:0001120	80.96	gold quality
granulocyte	CL:0000094	80.60	gold quality
thyroid gland	UBERON:0002046	80.44	gold quality
tendon of biceps brachii	UBERON:0008188	80.34	silver quality
skin of abdomen	UBERON:0001416	80.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.42
E-GEOD-100618	no	250.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

90 targeting QSOX2, 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-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-187-5P	99.74	70.26	1404

Literature-anchored findings (GeneRIF, showing 6)

• Results identify SOXN as a major player in Regulating the sensitization of neuroblastoma cells for IFN-gamma-induced apoptosis. (PMID:14633699)
• The present study was unable to confirm a significant association of all of the three SNPs, rs12338076 in LHX3-QSOX2, and rs1457595 and rs17032362 in IGF1, with adult height in our study population. (PMID:22503243)
• Self-interaction of the transmembrane helix of QSOX2 rests on a motif of conserved amino acids compromising one face of the helix. (PMID:26894260)
• The role of cell surface proteins gene expression in diagnosis, prognosis, and drug resistance of colorectal cancer: In silico analysis and validation. (PMID:34592197)
• Site-specific immobilization of the endosialidase reveals QSOX2 is a novel polysialylated protein. (PMID:38489772)
• QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction. (PMID:39341815)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	qsox2	ENSDARG00000077174
mus_musculus	Qsox2	ENSMUSG00000036327
rattus_norvegicus	Qsox2	ENSRNOG00000018574
drosophila_melanogaster	Qsox1	FBGN0033814
drosophila_melanogaster	Qsox3	FBGN0038918
drosophila_melanogaster	Qsox2	FBGN0038919
drosophila_melanogaster	Qsox4	FBGN0051413
caenorhabditis_elegans		WBGENE00020426

Paralogs (1): QSOX1 (ENSG00000116260)

Protein

Protein identifiers

Sulfhydryl oxidase 2 — Q6ZRP7 (reviewed: Q6ZRP7)

Alternative names: Neuroblastoma-derived sulfhydryl oxidase, Quiescin Q6-like protein 1

All UniProt accessions (2): Q6ZRP7, H0Y430

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis.

Subcellular location. Membrane. Secreted. Cell membrane. Nucleus membrane.

Tissue specificity. Expressed in pancreas, brain, placenta, kidney, heart and fetal tissues. Weakly expressed in lung, liver and skeletal muscles.

Cofactor. Binds 1 FAD per subunit.

Similarity. Belongs to the quiescin-sulfhydryl oxidase (QSOX) family.

RefSeq proteins (1): NP_859052* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013766	Thioredoxin_domain	Domain
IPR017905	ERV/ALR_sulphydryl_oxidase	Domain
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR036774	ERV/ALR_sulphydryl_oxid_sf	Homologous_superfamily
IPR039798	Sulfhydryl_oxidase	Family
IPR040986	QSOX_FAD-bd_dom	Domain
IPR041269	QSOX_Trx1	Domain
IPR042568	QSOX_FAD-bd_sf	Homologous_superfamily

Pfam: PF00085, PF04777, PF18108, PF18371

Enzyme classification (BRENDA):

• EC 1.8.3.2 — thiol oxidase (BRENDA: 39 organisms, 163 substrates, 41 inhibitors, 94 Km, 60 kcat entries)

Substrate kinetics (BRENDA)

25 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
DITHIOTHREITOL	0.03–52.2	16
GLUTATHIONE	0.02–41.2	11
O2	0.0001–0.77	10
GSH	0.09–20	8
L-CYS	0.42–10.9	7
RNASE A	0.014–0.36	5
DTT	0.14–12.5	4
2-MERCAPTOETHANOL	7.9–54	3
CYSTEAMINE	1.25–30	3
D-CYS	1.33–13.1	3
N-ACETYL-L-CYS	1.13–3.85	3
REDUCED RIBONUCLEASE	0.0174–0.115	2
2-NITRO-5-THIOBENZOIC ACID	100	1
GLY-GLY-L-CYS	6.31	1
N-ACETYL-EAQCGTS	1.72	1

Catalyzed reactions (Rhea), 1 shown:

• 2 R’C(R)SH + O2 = R’C(R)S-S(R)CR’ + H2O2 (RHEA:17357)

UniProt features (33 total): binding site 8, disulfide bond 5, glycosylation site 4, sequence conflict 3, compositionally biased region 3, active site 2, domain 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZRP7-F1	80.43	0.61

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 (2): 94 (nucleophile); 91 (nucleophile)

Ligand- & substrate-binding residues (8): 426; 433; 437; 478; 482; 505–512; 527; 530

Post-translational modifications (1): 579

Disulfide bonds (5): 91–94, 122–131, 418–430, 476–479, 536–539

Glycosylation sites (4): 77, 178, 218, 266

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 96 (showing top): GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_FOLDING, OZEN_MIR125B1_TARGETS, TAATGTG_MIR323, GOCC_NUCLEAR_ENVELOPE, LEE_RECENT_THYMIC_EMIGRANT, GOCC_NUCLEAR_MEMBRANE, GOMF_DISULFIDE_OXIDOREDUCTASE_ACTIVITY, GOMF_INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY, GOMF_ISOMERASE_ACTIVITY, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_DN, GOCC_ORGANELLE_ENVELOPE, BHAT_ESR1_TARGETS_VIA_AKT1_UP, LEE_BMP2_TARGETS_DN, GOMF_PROTEIN_DISULFIDE_ISOMERASE_ACTIVITY

GO Biological Process (1): protein folding (GO:0006457)

GO Molecular Function (4): protein disulfide isomerase activity (GO:0003756), flavin-dependent sulfhydryl oxidase activity (GO:0016971), oxidoreductase activity (GO:0016491), thiol oxidase activity (GO:0016972)

GO Cellular Component (9): Golgi membrane (GO:0000139), obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), nuclear membrane (GO:0031965), extracellular region (GO:0005576), nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular membrane-bounded organelle	2
cellular process	1
protein maturation	1
intramolecular oxidoreductase activity, transposing S-S bonds	1
catalytic activity, acting on a protein	1
protein-disulfide reductase activity	1
thiol oxidase activity	1
catalytic activity	1
disulfide oxidoreductase activity	1
oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
cytoplasm	1
endomembrane system	1
membrane	1
cell periphery	1
nucleus	1
nuclear envelope	1
organelle membrane	1

Protein interactions and networks

STRING

560 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
QSOX2	GFER	P55789	892
QSOX2	TXN	P10599	775
QSOX2	CHCHD4	Q8N4Q1	532
QSOX2	ERO1A	Q96HE7	519
QSOX2	MYCN	P04198	490
QSOX2	ERO1B	Q86YB8	473
QSOX2	PRDX4	Q13162	456
QSOX2	NADSYN1	Q6IA69	421
QSOX2	TIMM10	P62072	374
QSOX2	LRRC46	Q96FV0	361
QSOX2	NOS1AP	O75052	351
QSOX2	OGFOD3	Q6PK18	348
QSOX2	LHX3	Q9UBR4	333
QSOX2	ZBTB38	Q8NAP3	313
QSOX2	TSEN15	Q8WW01	311

IntAct

86 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
rep	AGPS	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
PICK1	ATP6AP2	psi-mi:“MI:0914”(association)	0.530
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
SLC25A6	HRAS	psi-mi:“MI:0914”(association)	0.530
QSOX2	NAP1L1	psi-mi:“MI:0914”(association)	0.350
M2	IPO5	psi-mi:“MI:0914”(association)	0.350
M2	AGPS	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ISG15	SURF4	psi-mi:“MI:0914”(association)	0.350
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
rep	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
ATG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
IGF1R	HAX1	psi-mi:“MI:0914”(association)	0.350
INSR	HAX1	psi-mi:“MI:0914”(association)	0.350
NTRK3	ILVBL	psi-mi:“MI:0914”(association)	0.350
PDGFRB	NDUFA4	psi-mi:“MI:0914”(association)	0.350

BioGRID (132): QSOX2 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), QSOX2 (Co-fractionation), NAP1L1 (Affinity Capture-MS), SMARCB1 (Affinity Capture-MS), TTC1 (Affinity Capture-MS), C2CD5 (Affinity Capture-MS), CEPT1 (Affinity Capture-MS), NBEAL2 (Affinity Capture-MS), ORC3 (Affinity Capture-MS)

ESM2 similar proteins: A0A5B9, A6NDV4, A6QLK4, B1AWJ5, E9PTA2, O75051, O94759, P01850, P01851, P01852, P01857, P01859, P01860, P01861, P01869, P01870, P01906, P01909, P03987, P06333, P0DSE2, P0DTU4, P11364, P15151, P15981, P20759, P20762, P32506, P54900, Q1WIM1, Q1WIM3, Q3TMX7, Q6P767, Q6ZRP7, Q7TQ33, Q812F8, Q8N126, Q8NFZ8, Q8R143, Q8R464

Diamond homologs: D3Z6P0, D4B2L8, H2N4I1, O00391, O08841, O13704, O22263, O48773, P04785, P05307, P07237, P08003, P09102, P09103, P11598, P13667, P17967, P21195, P27773, P29828, P30101, P34329, P38657, P38659, P38660, P38661, P52588, P52589, P54399, P55059, P80284, Q00216, Q00248, Q10057, Q11067, Q12404, Q12730, Q13087, Q15084, Q17770

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
QSOX2	up-regulates	Apoptosis

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 110 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Metal ion SLC transporters	6	50.8×	2e-07
Amino acid transport across the plasma membrane	7	29.6×	2e-07
R-HSA-425366	9	23.0×	6e-08
SLC-mediated transmembrane transport	12	10.0×	2e-07
R-HSA-425393	5	9.1×	9e-03
Transport of small molecules	12	4.2×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
intracellular monoatomic cation homeostasis	5	59.8×	2e-06
zinc ion transmembrane transport	6	44.8×	7e-07
intracellular zinc ion homeostasis	6	30.7×	5e-06
amino acid transport	9	29.9×	1e-08
insulin receptor signaling pathway	5	11.8×	4e-03
transport across blood-brain barrier	6	11.4×	1e-03
sodium ion transmembrane transport	5	10.8×	4e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	7	5.8×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	94
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2740 predictions. Top by Δscore:

Variant	Effect	Δscore
9:136211453:C:CC	acceptor_gain	1.0000
9:136216594:GCTCA:G	donor_loss	1.0000
9:136216595:CTCA:C	donor_loss	1.0000
9:136216596:TCA:T	donor_loss	1.0000
9:136216597:CACCC:C	donor_loss	1.0000
9:136216598:A:C	donor_loss	1.0000
9:136216599:C:CG	donor_loss	1.0000
9:136216719:ACAG:A	acceptor_gain	1.0000
9:136216720:CAG:C	acceptor_gain	1.0000
9:136216720:CAGC:C	acceptor_gain	1.0000
9:136216721:AG:A	acceptor_gain	1.0000
9:136216721:AGCTG:A	acceptor_loss	1.0000
9:136216722:GCTGC:G	acceptor_loss	1.0000
9:136216723:C:CC	acceptor_gain	1.0000
9:136216723:CT:C	acceptor_loss	1.0000
9:136218699:AGT:A	donor_gain	1.0000
9:136218701:T:TA	donor_gain	1.0000
9:136218806:GACC:G	acceptor_loss	1.0000
9:136218808:CCTA:C	acceptor_loss	1.0000
9:136218809:C:CC	acceptor_gain	1.0000
9:136218810:T:C	acceptor_loss	1.0000
9:136218974:AG:A	donor_gain	1.0000
9:136218992:A:AC	donor_gain	1.0000
9:136218993:C:CC	donor_gain	1.0000
9:136218993:CTGT:C	donor_gain	1.0000
9:136221789:CACT:C	donor_loss	1.0000
9:136221790:ACTC:A	donor_loss	1.0000
9:136221791:CTCA:C	donor_loss	1.0000
9:136221792:TCAC:T	donor_loss	1.0000
9:136221793:CACA:C	donor_loss	1.0000

AlphaMissense

4515 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:136245503:A:G	W101R	0.995
9:136245503:A:T	W101R	0.995
9:136226870:C:A	W111C	0.993
9:136226870:C:G	W111C	0.993
9:136245501:C:A	W101C	0.993
9:136245501:C:G	W101C	0.993
9:136226872:A:G	W111R	0.992
9:136226872:A:T	W111R	0.992
9:136211298:C:A	W505C	0.990
9:136211298:C:G	W505C	0.990
9:136211300:A:G	W505R	0.990
9:136211300:A:T	W505R	0.990
9:136215261:C:G	C418S	0.989
9:136215262:A:T	C418S	0.989
9:136215215:C:A	W433C	0.988
9:136215215:C:G	W433C	0.988
9:136209235:C:A	W530C	0.987
9:136209235:C:G	W530C	0.987
9:136215269:C:A	W415C	0.987
9:136215269:C:G	W415C	0.987
9:136245560:A:G	W82R	0.987
9:136245560:A:T	W82R	0.987
9:136209233:G:T	P531H	0.986
9:136209237:A:G	W530R	0.986
9:136209237:A:T	W530R	0.986
9:136245546:G:C	F86L	0.986
9:136245546:G:T	F86L	0.986
9:136245548:A:G	F86L	0.986
9:136209234:G:A	P531S	0.985
9:136209219:A:G	C536R	0.984

dbSNP variants (sampled 300 via entrez): RS1000105364 (9:136230584 G>A), RS1000139386 (9:136221507 A>G), RS1000281055 (9:136234939 C>T), RS1000314340 (9:136215775 G>C), RS1000345269 (9:136215455 C>G,T), RS1000499201 (9:136228474 A>G), RS1000615372 (9:136208090 G>A), RS1000656960 (9:136239171 C>G), RS1000680803 (9:136217001 C>A,T), RS1000728093 (9:136212073 G>A), RS1000769493 (9:136226070 C>T), RS1000827947 (9:136219911 C>T), RS1000841622 (9:136243074 A>G), RS1000874063 (9:136243350 T>C), RS1000938429 (9:136245022 G>A,T)

Disease associations

OMIM: gene MIM:612860 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000611_15	Height	2.000000e-08
GCST000817_48	Height	5.000000e-14
GCST002647_34	Height	1.000000e-29
GCST002702_62	Height	7.000000e-23
GCST003336_11	Waist circumference adjusted for body mass index	5.000000e-07
GCST004131_21	Inflammatory bowel disease	5.000000e-36
GCST004132_11	Crohn’s disease	6.000000e-30
GCST004133_17	Ulcerative colitis	2.000000e-16
GCST006585_943	Blood protein levels	6.000000e-26
GCST007429_25	Lung function (FVC)	4.000000e-20
GCST007432_183	FEV1	9.000000e-12
GCST007876_112	Estimated glomerular filtration rate	8.000000e-10
GCST008058_131	Estimated glomerular filtration rate	8.000000e-16
GCST008059_41	Estimated glomerular filtration rate	6.000000e-14
GCST008163_159	Height	6.000000e-08
GCST008163_544	Height	4.000000e-10
GCST008747_48	Estimated glomerular filtration rate	3.000000e-09
GCST008839_478	Height	4.000000e-45
GCST010002_282	Refractive error	1.000000e-14
GCST012226_100	Waist circumference adjusted for body mass index	5.000000e-10
GCST012226_99	Waist circumference adjusted for body mass index	2.000000e-12
GCST012227_452	Hip circumference adjusted for BMI	1.000000e-08
GCST012227_453	Hip circumference adjusted for BMI	4.000000e-08
GCST90000025_386	Appendicular lean mass	2.000000e-20
GCST90020028_29	Hip circumference adjusted for BMI	3.000000e-12
GCST90020028_396	Hip circumference adjusted for BMI	8.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0008039	BMI-adjusted hip circumference
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	2
Estradiol	increases expression	2
Smoke	decreases expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
Particulate Matter	increases abundance, increases expression, affects cotreatment	2
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
bisphenol A	increases expression	1
sodium arsenate	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	increases expression	1
bisphenol S	decreases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Air Pollutants, Occupational	affects expression	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Doxorubicin	decreases expression	1
Gasoline	increases abundance, increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methotrexate	decreases expression	1
Nickel	increases expression	1
Polycyclic Aromatic Hydrocarbons	increases expression, affects cotreatment, increases abundance	1

Clinical trials (associated diseases)

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