OGN

Summary

OGN (osteoglycin, HGNC:8126) is a protein-coding gene on chromosome 9q22.31, encoding Mimecan (P20774). Induces bone formation in conjunction with TGF-beta-1 or TGF-beta-2.

This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 4969 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• MANE Select transcript: NM_014057

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8126
Approved symbol	OGN
Name	osteoglycin
Location	9q22.31
Locus type	gene with protein product
Status	Approved
Aliases	mimecan, OIF, SLRR3A
Ensembl gene	ENSG00000106809
Ensembl biotype	protein_coding
OMIM	602383
Entrez	4969

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000262551, ENST00000375561, ENST00000447356, ENST00000468743, ENST00000897614, ENST00000897615, ENST00000952697

RefSeq mRNA: 3 — MANE Select: NM_014057 NM_014057, NM_024416, NM_033014

CCDS: CCDS6695

Canonical transcript exons

ENST00000375561 — 7 exons

Exon	Start	End
ENSE00000711471	92393086	92393244
ENSE00000711473	92401092	92401185
ENSE00001091411	92386201	92386296
ENSE00001467428	92404496	92404578
ENSE00001467479	92403234	92403482
ENSE00003785765	92389854	92390056
ENSE00003842325	92383268	92385790

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 99.52.

FANTOM5 (CAGE): breadth broad, TPM avg 5.1630 / max 426.7096, expressed in 348 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101419	2.1861	258
101416	1.2536	187
101421	0.9022	194
101417	0.3225	112
101422	0.2141	104
101418	0.1241	64
101420	0.1036	59
101423	0.0567	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	99.52	gold quality
descending thoracic aorta	UBERON:0002345	99.26	gold quality
parietal pleura	UBERON:0002400	99.25	gold quality
thoracic aorta	UBERON:0001515	99.08	gold quality
ascending aorta	UBERON:0001496	99.05	gold quality
gall bladder	UBERON:0002110	99.02	gold quality
decidua	UBERON:0002450	98.90	gold quality
blood vessel layer	UBERON:0004797	98.90	gold quality
coronary artery	UBERON:0001621	98.71	gold quality
left coronary artery	UBERON:0001626	98.63	gold quality
tendon of biceps brachii	UBERON:0008188	98.39	gold quality
cartilage tissue	UBERON:0002418	97.84	gold quality
aorta	UBERON:0000947	97.50	gold quality
vena cava	UBERON:0004087	97.36	gold quality
trigeminal ganglion	UBERON:0001675	97.28	gold quality
germinal epithelium of ovary	UBERON:0001304	96.68	gold quality
artery	UBERON:0001637	96.61	gold quality
superficial temporal artery	UBERON:0001614	96.60	gold quality
cauda epididymis	UBERON:0004360	96.53	gold quality
mammary duct	UBERON:0001765	96.44	gold quality
popliteal artery	UBERON:0002250	96.31	gold quality
tibial artery	UBERON:0007610	96.29	gold quality
tibia	UBERON:0000979	96.21	gold quality
pericardium	UBERON:0002407	95.68	gold quality
pleura	UBERON:0000977	95.60	gold quality
right ovary	UBERON:0002118	95.25	gold quality
endocervix	UBERON:0000458	95.08	gold quality
dorsal root ganglion	UBERON:0000044	94.61	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.32	gold quality
left ovary	UBERON:0002119	93.90	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-HCAD-23	yes	13780.17
E-GEOD-130148	yes	3245.71
E-CURD-112	yes	2267.41
E-MTAB-10042	yes	1925.64
E-MTAB-9841	yes	1630.32
E-MTAB-8221	yes	1572.97
E-HCAD-24	yes	1306.99
E-MTAB-9906	yes	1197.51
E-HCAD-10	yes	774.14
E-GEOD-124472	yes	720.22
E-ANND-5	yes	591.93
E-GEOD-84465	yes	429.05
E-MTAB-8410	yes	61.18
E-GEOD-135922	yes	49.73
E-MTAB-10287	yes	33.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): IRF1, IRF2, POU1F1, USF1

miRNA regulators (miRDB)

125 targeting OGN, 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-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Literature-anchored findings (GeneRIF, showing 32)

• This work provides insight into the regulating mechanism of mimecan in pituitary and suggests that mimecan may be an unidentified pituitary secretory protein, and certain pituitary cells secreting ACTH or GH also secrete mimecan. (PMID:16189248)
• All adenoma and cancer tissues did not express mimecan, but all normal mucosa did (P < 0.01). (PMID:17895523)
• High expression in the cochlea may be suggestive of a fundamental role for a transcript in the auditory system (PMID:18243607)
• We found that IGF-2 and IGFBP2 synergistically increased neurite outgrowth via enhanced early signaling through the IGF type 1 receptor. (PMID:23714241)
• Circulating OGN and NGAL/MMP9 complex are promising biomarkers that are expressed in vulnerable atherosclerotic plaques and may have incremental value for prediction of MACE within 1 year after coronary angiography. (PMID:24651681)
• Osteomodulin, osteoglycin, and asporin appear to be distinctly regulated in osteoarthritis labrum compared to OA cartilage. (PMID:25371314)
• The lack of the proteoglycan OGN does not affect the progression of atherosclerosis in mice. Possible causes for the absence of phenotype in the Apoe/Ogn double mutants are discussed. (PMID:25463067)
• OGN might play a role in the development of Ovarian Cancer, and may be a therapeutic target in OC. (PMID:25953442)
• OIF may be an indicator of the earlier-stage diabetic nephropathy in subjects with type 2 diabetes mellitus (PMID:26045825)
• Increased plasma mimecan levels are independently associated with increased arterial stiffness in hypertensive patients. (PMID:26206738)
• mimecan is a satiety hormone in adipose tissue, and that mimecan inhibits food intake independently of leptin signaling by inducing IL-1beta and IL-6 expression in the hypothalamus. (PMID:26870797)
• Increased serum mimecan is associated with poor angiographic coronary collateralization in patients with chronic total occlusion (PMID:27508318)
• the association of serum OGN and FAM5C levels and muscle mass with bone mineral density (BMD), bone turnover markers, and the presence of vertebral fractures (VFs) in 156 postmenopausal women with type 2 diabetes mellitus, is reported. (PMID:27836731)
• The current study discovered a novel 72-kDa chondroitin sulfate-OGN that is specific for innate immune cells. This variant is able to bind and activate TLR4. (PMID:27878326)
• OGN plays a critical role in negatively regulating ischaemia-induced angiogenesis by inhibiting VEGF-VEGFR2 signalling and thereby attenuating endothelial cells tube formation, proliferation, and migration. (PMID:28069703)
• serum osteoglycin is a potential predictor of adverse outcomes in patients with chronic kidney disease. (PMID:28824047)
• OGN identified as a novel oncogene in meningioma proliferation. (PMID:28931407)
• Results provide evidence that osteoglycin expression is increased in the heart in response to pressure overload and its absence results in increased cardiac inflammation and fibrosis resulting in increased diastolic dysfunction. (PMID:28958774)
• NK cells promote fetal development through the secretion of growth-promoting factors, pleiotrophin and osteoglycin. (PMID:29262349)
• There is a positive association between OGN level and prolonged survival in CRC. OGN plays a restrictive role in colorectal cancer progression by reduced activation of EGFR/AKT/Zeb-1. (PMID:29499765)
• High Plasma Osteoglycin expression is associated with Coronary Lesions. (PMID:29503411)
• serum concentration not associated with carotid atherosclerosis plaque in essential hypertensive patients (PMID:29867136)
• OGN expression is positively associated with CD8+ cell density in colorectal cancer tissue, suggesting a possible influence of OGN expression on tumor reactive T cells in the tumor niche. (PMID:30037719)
• Circular RNA hsa_circ_0076906 competes with OGN for miR-1305 biding site to alleviate the progression of osteoporosis. (PMID:32087327)
• Overexpressed microRNA-140 inhibits pulmonary fibrosis in interstitial lung disease via the Wnt signaling pathway by downregulating osteoglycin. (PMID:32755451)
• Differential expression of Lumican, Mimecan, Annexin A5 and Serotransferrin in ectopic and matched eutopic endometrium in ovarian endometriosis: a case-control study. (PMID:32964764)
• The proteoglycan mimecan is associated with carotid plaque vulnerability and increased risk of future cardiovascular death. (PMID:33032238)
• Osteoglycin knockdown promotes vascular smooth muscle cell proliferation and migration in aortic dissection via the VEGF/VEGFR2 axis. (PMID:33215216)
• Chrysophanol inhibits the osteoglycin/mTOR and activats NF2 signaling pathways to reduce viability and proliferation of malignant meningioma cells. (PMID:33622177)
• Increased proteolytic cleavage of osteoglycin is associated with a stable plaque phenotype and lower risk of cardiovascular events. (PMID:35850021)
• Osteoglycin (OGN) promotes tumorigenesis of pancreatic cancer cell via targeting ID4. (PMID:35908351)
• Serum osteoglycin is stable during various glycemic challenges in healthy men. (PMID:38549032)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ognb	ENSDARG00000031489
danio_rerio	ogna	ENSDARG00000044132
mus_musculus	Ogn	ENSMUSG00000021390
rattus_norvegicus	Ogn	ENSRNOG00000029792

Paralogs (10): EPYC (ENSG00000083782), ECM2 (ENSG00000106823), FMOD (ENSG00000122176), OMG (ENSG00000126861), OMD (ENSG00000127083), LUM (ENSG00000139329), KERA (ENSG00000139330), PRELP (ENSG00000188783), LINGO4 (ENSG00000213171), LINGO3 (ENSG00000220008)

Protein

Protein identifiers

Mimecan — P20774 (reviewed: P20774)

Alternative names: Osteoglycin, Osteoinductive factor

All UniProt accessions (3): P20774, A8K0R3, Q5TBF5

UniProt curated annotations — full annotation on UniProt →

Function. Induces bone formation in conjunction with TGF-beta-1 or TGF-beta-2.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Bone.

Post-translational modifications. O-glycosylated with a core 1 or possibly core 8 glycan. Contains keratan sulfate.

Similarity. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.

RefSeq proteins (3): NP_054776, NP_077727, NP_148935 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR043547	Mimecan/Epiphycan/Opticin	Family

Pfam: PF13855

UniProt features (14 total): repeat 7, glycosylation site 4, signal peptide 1, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20774-F1	78.60	0.68

Functional residue map

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

Disulfide bonds (1): 255–288

Glycosylation sites (4): 88, 214, 258, 80

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-2022854	Keratan sulfate biosynthesis
R-HSA-2022857	Keratan sulfate degradation
R-HSA-3656225	Defective CHST6 causes MCDC1
R-HSA-3656243	Defective ST3GAL3 causes MCT12 and EIEE15
R-HSA-3656244	Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
R-HSA-1430728	Metabolism
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-1638074	Keratan sulfate/keratin metabolism
R-HSA-1643685	Disease
R-HSA-3560782	Diseases associated with glycosaminoglycan metabolism
R-HSA-3781865	Diseases of glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives

MSigDB gene sets: 182 (showing top): GOBP_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, MODULE_64, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_MUSCLE_CELL_PROLIFERATION, CHANDRAN_METASTASIS_DN, EVI1_05, GOBP_BONE_DEVELOPMENT, FINAK_BREAST_CANCER_SDPP_SIGNATURE, BOQUEST_STEM_CELL_CULTURED_VS_FRESH_DN, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, WONG_ENDMETRIUM_CANCER_DN

GO Biological Process (4): negative regulation of smooth muscle cell proliferation (GO:0048662), bone development (GO:0060348), articular cartilage development (GO:0061975), signal transduction (GO:0007165)

GO Molecular Function (3): growth factor activity (GO:0008083), protein binding (GO:0005515), extracellular matrix structural constituent conferring compression resistance (GO:0030021)

GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), extracellular matrix (GO:0031012), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062), extracellular vesicle (GO:1903561)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Diseases associated with glycosaminoglycan metabolism	3
Keratan sulfate/keratin metabolism	2
Metabolism of carbohydrates and carbohydrate derivatives	1
Glycosaminoglycan metabolism	1
Diseases of glycosylation	1
Diseases of metabolism	1
Disease	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of cell population proliferation	1
smooth muscle cell proliferation	1
regulation of smooth muscle cell proliferation	1
skeletal system development	1
animal organ development	1
cartilage development	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
receptor ligand activity	1
binding	1
extracellular matrix structural constituent	1
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1
external encapsulating structure	1
lysosome	1
vacuolar lumen	1
extracellular vesicle	1
extracellular region	1
vesicle	1
extracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1916 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OGN	VCAN	P13611	707
OGN	OMD	Q99983	634
OGN	KERA	O60938	626
OGN	ASPN	Q9BXN1	615
OGN	BGN	P13247	598
OGN	LUM	P51884	594
OGN	BGLAP	P02818	590
OGN	FMOD	Q06828	566
OGN	DCN	P07585	564
OGN	THBS1	P07996	563
OGN	PRELP	P51888	549
OGN	SOST	Q9BQB4	536
OGN	DPT	Q07507	522
OGN	HLA-DRB1	P01911	520
OGN	BMP2	P12643	519
OGN	CTNNB1	P35222	519

IntAct

16 interactions, top by confidence:

A	B	Type	Score
OGN	NPTX1	psi-mi:“MI:0914”(association)	0.530
ABL1	OGN	psi-mi:“MI:0915”(physical association)	0.400
OGN	CRK	psi-mi:“MI:0915”(physical association)	0.400
SRC	OGN	psi-mi:“MI:0915”(physical association)	0.400
PCNA	OGN	psi-mi:“MI:0915”(physical association)	0.370
TANK	CNOT1	psi-mi:“MI:0914”(association)	0.350
TRADD	HNRNPCL2	psi-mi:“MI:0914”(association)	0.350
SLC28A3	IGKC	psi-mi:“MI:0914”(association)	0.350
OGN	HSP90B1	psi-mi:“MI:0914”(association)	0.350
ATF1	MYO1C	psi-mi:“MI:0914”(association)	0.350
CEBPD	PTGES	psi-mi:“MI:0914”(association)	0.350

BioGRID (21): ASB7 (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), DNAJC13 (Affinity Capture-MS), HLA-DRB1 (Affinity Capture-MS), ASB7 (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), OGN (Affinity Capture-MS), OGN (Affinity Capture-MS), OGN (Synthetic Lethality), OGN (Negative Genetic), ASB7 (Affinity Capture-MS)

ESM2 similar proteins: O02678, O15335, O35367, O42235, O46390, O46403, O46542, O55226, O60938, O62702, O70210, O75094, O94813, P07585, P19879, P20774, P21793, P21809, P21810, P28653, P28654, P28675, P47853, P51887, P51888, P82963, Q01129, Q27972, Q28888, Q29393, Q3ZBN5, Q5R1V9, Q5RBL2, Q5RI43, Q8MJF1, Q99MQ4, Q9BXN1, Q9DE65, Q9DE66, Q9DE68

Diamond homologs: B1H134, B1H234, D3ZTV3, F1NUK7, G5EFX6, G5EG78, O43155, O88280, P19879, P20774, P24014, P58874, P79119, P83286, Q5R6T0, Q5RAC4, Q5RBL2, Q62000, Q6PEZ8, Q6RKD8, Q70AK3, Q810C1, Q8BGT1, Q8BLU0, Q8MJF1, Q96PX8, Q9DE65, Q9NR97, Q9NZU0, Q9NZU1, Q9UBM4, Q9W6H0, O46378, O46379, O75094, O88186, O88279, O94813, P14770, P58682

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

925 predictions. Top by Δscore:

Variant	Effect	Δscore
9:92385677:T:A	donor_gain	1.0000
9:92385786:TTGAA:T	acceptor_gain	1.0000
9:92385787:TGAA:T	acceptor_gain	1.0000
9:92385788:GAA:G	acceptor_gain	1.0000
9:92385789:AA:A	acceptor_gain	1.0000
9:92385791:C:CC	acceptor_gain	1.0000
9:92385791:CTGA:C	acceptor_loss	1.0000
9:92385792:T:G	acceptor_loss	1.0000
9:92386294:TTT:T	acceptor_gain	1.0000
9:92386294:TTTC:T	acceptor_loss	1.0000
9:92386295:TT:T	acceptor_gain	1.0000
9:92386295:TTCT:T	acceptor_loss	1.0000
9:92386296:TCTG:T	acceptor_loss	1.0000
9:92386297:C:CC	acceptor_gain	1.0000
9:92386297:CTGT:C	acceptor_loss	1.0000
9:92386298:T:C	acceptor_loss	1.0000
9:92389848:ACTT:A	donor_loss	1.0000
9:92389849:CTT:C	donor_loss	1.0000
9:92389850:TTA:T	donor_loss	1.0000
9:92389851:TA:T	donor_loss	1.0000
9:92389852:A:AC	donor_gain	1.0000
9:92389852:AC:A	donor_loss	1.0000
9:92389853:C:CT	donor_gain	1.0000
9:92389853:CT:C	donor_gain	1.0000
9:92389853:CTT:C	donor_gain	1.0000
9:92389853:CTTT:C	donor_gain	1.0000
9:92389853:CTTTG:C	donor_gain	1.0000
9:92390052:GTTAG:G	acceptor_gain	1.0000
9:92390053:TTAG:T	acceptor_gain	1.0000
9:92390054:TAG:T	acceptor_gain	1.0000

AlphaMissense

1952 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:92386205:A:G	L241P	0.999
9:92389969:A:G	L172P	0.999
9:92390025:A:C	N153K	0.999
9:92390025:A:T	N153K	0.999
9:92393195:A:C	C106W	0.999
9:92393196:C:G	C106S	0.999
9:92393196:C:T	C106Y	0.999
9:92393197:A:G	C106R	0.999
9:92393197:A:T	C106S	0.999
9:92393218:A:G	C99R	0.999
9:92393223:C:T	C97Y	0.999
9:92393224:A:G	C97R	0.999
9:92385655:A:G	C288R	0.998
9:92385753:C:G	C255S	0.998
9:92385754:A:T	C255S	0.998
9:92385785:G:C	N244K	0.998
9:92385785:G:T	N244K	0.998
9:92389963:A:G	L174P	0.998
9:92393136:G:T	A126E	0.998
9:92393142:A:G	L124P	0.998
9:92393196:C:A	C106F	0.998
9:92393216:A:C	C99W	0.998
9:92393217:C:G	C99S	0.998
9:92393217:C:T	C99Y	0.998
9:92393218:A:T	C99S	0.998
9:92393222:A:C	C97W	0.998
9:92393223:C:G	C97S	0.998
9:92393224:A:T	C97S	0.998
9:92393233:A:G	C94R	0.998
9:92385705:C:G	R271P	0.997

dbSNP variants (sampled 300 via entrez): RS1000015031 (9:92384132 T>C), RS1000060549 (9:92391450 G>A), RS1000070619 (9:92388166 CT>C,CTT), RS1000140589 (9:92404846 T>C), RS1000448408 (9:92383707 T>C), RS1000465721 (9:92401903 G>T), RS1000747365 (9:92403194 C>A), RS1000803305 (9:92395918 G>A), RS1000816688 (9:92402278 T>C), RS1000849501 (9:92396743 A>AT), RS1000896911 (9:92396256 C>G), RS1000961559 (9:92390015 C>T), RS1001034382 (9:92383226 T>C), RS1001108237 (9:92382974 C>A,T), RS1001328598 (9:92390407 A>G)

Disease associations

OMIM: gene MIM:602383 | 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
GCST010725_16	Malaria	9.000000e-06
GCST010725_28	Malaria	6.000000e-06
GCST010725_95	Malaria	6.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2,4,6-tribromophenol	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
sodium arsenite	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
incobotulinumtoxinA	increases expression	1
Arsenic Trioxide	decreases expression	1
Cisplatin	increases expression, affects cotreatment	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Estradiol	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lipopolysaccharides	affects cotreatment, affects response to substance, increases expression	1
Methotrexate	decreases expression	1
Nickel	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Triclosan	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Paclitaxel	affects cotreatment, increases expression	1
Antirheumatic Agents	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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