ANGPTL2

Summary

ANGPTL2 (angiopoietin like 2, HGNC:490) is a protein-coding gene on chromosome 9q33.3, encoding Angiopoietin-related protein 2 (Q9UKU9). Induces sprouting in endothelial cells through an autocrine and paracrine action.

Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action.

Source: NCBI Gene 23452 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 74 total — 1 pathogenic
• MANE Select transcript: NM_012098

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:490
Approved symbol	ANGPTL2
Name	angiopoietin like 2
Location	9q33.3
Locus type	gene with protein product
Status	Approved
Aliases	ARP2, HARP
Ensembl gene	ENSG00000136859
Ensembl biotype	protein_coding
OMIM	605001
Entrez	23452

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000373417, ENST00000373425, ENST00000470194, ENST00000491991, ENST00000903364, ENST00000903365

RefSeq mRNA: 1 — MANE Select: NM_012098 NM_012098

CCDS: CCDS6868

Canonical transcript exons

ENST00000373425 — 5 exons

Exon	Start	End
ENSE00000927125	127091670	127091940
ENSE00001460547	127107915	127108780
ENSE00001460549	127122315	127122635
ENSE00001882650	127087348	127089138
ENSE00003590232	127093733	127093926

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 99.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.0480 / max 542.8126, expressed in 1160 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102529	9.2013	1002
102531	5.9744	1092
102530	1.9317	670
102532	1.4852	579
102533	0.4554	232

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	99.56	gold quality
synovial joint	UBERON:0002217	99.11	gold quality
layer of synovial tissue	UBERON:0007616	98.61	gold quality
tibia	UBERON:0000979	98.19	gold quality
gall bladder	UBERON:0002110	97.65	gold quality
adipose tissue	UBERON:0001013	97.05	gold quality
adipose tissue of abdominal region	UBERON:0007808	97.05	gold quality
omental fat pad	UBERON:0010414	97.03	gold quality
gluteal muscle	UBERON:0002000	96.99	gold quality
peritoneum	UBERON:0002358	96.98	gold quality
subcutaneous adipose tissue	UBERON:0002190	96.93	gold quality
stromal cell of endometrium	CL:0002255	96.79	gold quality
connective tissue	UBERON:0002384	96.73	gold quality
tendon	UBERON:0000043	96.02	gold quality
mucosa of stomach	UBERON:0001199	95.82	gold quality
smooth muscle tissue	UBERON:0001135	95.65	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.41	gold quality
periodontal ligament	UBERON:0008266	95.34	gold quality
calcaneal tendon	UBERON:0003701	94.96	gold quality
mammary duct	UBERON:0001765	94.48	gold quality
skin of hip	UBERON:0001554	94.45	gold quality
endocervix	UBERON:0000458	94.29	gold quality
tibialis anterior	UBERON:0001385	93.99	gold quality
right ovary	UBERON:0002118	93.85	gold quality
body of uterus	UBERON:0009853	93.69	gold quality
epithelium of mammary gland	UBERON:0003244	93.28	gold quality
thoracic mammary gland	UBERON:0005200	93.28	gold quality
mammary gland	UBERON:0001911	93.25	gold quality
right atrium auricular region	UBERON:0006631	93.02	gold quality
left uterine tube	UBERON:0001303	92.96	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8322	yes	754.42
E-MTAB-10662	yes	496.05
E-ANND-3	yes	17.46
E-MTAB-5061	yes	5.85
E-GEOD-93593	yes	4.56

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BMAL1, CREB1, FOXO1, HOXB9, SMAD3

miRNA regulators (miRDB)

94 targeting ANGPTL2, 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-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-6077	99.99	68.04	2299
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-4789-5P	99.98	70.76	2721
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337

Literature-anchored findings (GeneRIF, showing 40)

• The upregulation of ANGPTL2 in diabetic glomerulopathy shows a close relationship to abnormal microvasculature and endothelial inflammation. (PMID:17347581)
• epigenetic silencing by hypermethylation of the ANGPTL2 promoter leads to a loss of ANGPTL2 function, which may be a factor in the carcinogenesis of ovarian cancer in a stage-dependent manner. (PMID:18593905)
• Angiopoietin-like protein 2 (Angptl2) was secreted by adipose tissue and that its circulating level was closely related to adiposity, systemic insulin resistance, and inflammation in humans. (PMID:19723494)
• Angptl2 acts as an important rheumatoid synovium-derived inflammatory mediator in RA pathogenesis (PMID:20304962)
• ANGPTL-2 and -3 have enhancing effect on human hematopoietic progenitor cell survival, effects requiring the CC domain of the ANGPTL molecules. (PMID:21983347)
• keratinocyte-derived Angptl2 functions in dermatomyositis pathogenesis by inducing chronic inflammation in skin tissue. (PMID:22281496)
• tumor cell-derived ANGPTL2 drives metastasis and provided an initial proof of concept for blockade of its action as a strategy to antagonize the metastatic process. (PMID:22345152)
• Macrophage-derived Angptl2 contributes to abdominal aortic aneurysm development by inducing inflammation and degradation of extracellular matrix in the vessel wall. (PMID:22556334)
• Elevated serum ANGPTL2 levels were positively associated with the development of T2DM in a general population, independent of other risk factors including hs-CRP levels. (PMID:22966088)
• In epicardial adipose tissue from coronary heart disease patients, ANGPTL2 expression was positively correlated with that of TNF-alpha. (PMID:23333801)
• periodic expression of ANGPTL2 is regulated by a molecular clock (PMID:23469106)
• Angptl2 levels are elevated in patients with type 2 diabetes with an independent association between increasing Angptl2 levels and increasing levels of albuminuria. (PMID:23602322)
• Elevated serum Angptl2 is associated with the likelihood of CKD in the general population. (PMID:23739531)
• findings demonstrate that preventing ANGPTL2 signaling stimulated by the tumor microenvironment could inhibit tumor cell migration and metastasis (PMID:24448647)
• expression of Angptl2 induced by mechanical stress in ligamentus flavum (LF) fibroblasts promotes LF tissue degeneration. (PMID:24465594)
• Endothelial cell-derived Angptl2 accelerates vascular inflammation by activating proinflammatory signaling in endothelial cells and increasing macrophage infiltration, leading to endothelial dysfunction and atherosclerosis progression. (PMID:24526691)
• ANGPTL2 positively regulates endothelial colony forming cell vascular lumen formation. (PMID:24563071)
• Serum ANGPTL2 levels in patients with metastatic breast cancer were significantly higher than those in healthy subjects or in patients with ductal carcinoma in situ or non-metastatic invasive ductal carcinoma. (PMID:24585434)
• A novel motif in the first and fourth Ig domains of LILRB2 was identified that is necessary for the receptor to be bound and activated by Angptl2. (PMID:24899623)
• abnormal upregulation of ANGPTL2 in colorectal cancer is associated with miR-25 downregulation (PMID:25174582)
• Results show that ANGPTL2 antagonizes apoptosis by increasing Syk expression in colorectal cancer cells resistant to chemotherapy. (PMID:25287946)
• Serum ANGPTL2 is a novel diagnostic and recurrence-predictive biomarker in patients with colorectal cancer. (PMID:25294915)
• ANGPTL2 may be important in the acquisition of androgen independency and tumor progression of prostate cancer in an autocrine and/or paracrine manner via the integrin alpha5beta1 receptor. (PMID:25370833)
• This review aims at presenting an updated description of both the beneficial and deleterious biological properties of angptl2, in addition to its molecular signalling pathways and transcriptional regulation (PMID:25417860)
• These results suggested that ANGPTL2 was a potential biomarker for gastric cancer. (PMID:25484242)
• In lumbar spinal stenosis, Angptl2 promotes inflammation in ligamentum flavum(LF) tissue by activating IL-6 expression, leading to LF degeneration and hypertrophy. (PMID:25735609)
• Serum ANGPTL2 concentration was associated with carotid atherosclerosis in patients with type 2 diabetes. (PMID:25889082)
• Serum ANGPTL2 improves preoperative detection of LN metastasis in CRC (PMID:25964566)
• these findings are the first to suggest a considerable role for Angptl2 in the pathogenesis of unstable coronary disease in a clinical context (PMID:25999029)
• signaling involving ANGPTL2 and LILRB2 is important for lung cancer development (PMID:26056041)
• ANGPTL2 promotes adipose tissue macrophage and T lymphocyte accumulation and leads to insulin resistance. (PMID:26132105)
• ANGPTL2 may be a useful marker for detecting early postoperative recurrence in patients with gastric cancer. (PMID:26254352)
• Serum ANGPTL2 in GC patients was significantly higher than for healthy controls. (PMID:26420253)
• Angptl2 induces proinflammatory responses in peritoneal macrophages and monocytes. (PMID:26435501)
• ANGPTL2 and TGF-beta1 positively regulate each other as renal fibrosis progresses. (PMID:26806834)
• Aberrant expression of ANGPTL2 in cumulus cells is potentially associated with impaired oocyte developmental competence in polycystic ovary syndrome. (PMID:26829602)
• Reduced leukocyte DNA methylation in the promoter region of ANGPTL2 is associated with the pro-inflammatory environment that characterizes patients with post-ACS differently from age-matched healthy controls. Methylation of different CpGs in ANGPTL2 gene may prove to be a reliable biomarker of coronary disease (PMID:27101308)
• Elevated serum ANGPTL2 levels are a novel risk factor for the development of CVD in the general population. This association is partially mediated by metabolic disorders and inflammation. (PMID:27365403)
• In patients with type 2 diabetes, serum ANGPTL2 concentrations were independently associated with death and MACE. (PMID:27491833)
• At 11-13 weeks in pregnancies that develop GDM, the serum concentration of ANGPTL2 is increased, and it can be combined with maternal factors to provide effective early screening for GDM. (PMID:27647189)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Angptl2	ENSMUSG00000004105
rattus_norvegicus	Angptl2	ENSRNOG00000016678

Paralogs (25): TNC (ENSG00000041982), FCN1 (ENSG00000085265), ANGPT2 (ENSG00000091879), ANGPT4 (ENSG00000101280), FGL1 (ENSG00000104760), FN1 (ENSG00000115414), TNR (ENSG00000116147), ANGPTL1 (ENSG00000116194), TNN (ENSG00000120332), FGL2 (ENSG00000127951), FIBCD1 (ENSG00000130720), ANGPTL6 (ENSG00000130812), ANGPTL3 (ENSG00000132855), FCN3 (ENSG00000142748), FNDC7 (ENSG00000143107), ANGPT1 (ENSG00000154188), FCN2 (ENSG00000160339), MFAP4 (ENSG00000166482), ANGPTL4 (ENSG00000167772), TNXB (ENSG00000168477), FGG (ENSG00000171557), FGA (ENSG00000171560), FGB (ENSG00000171564), ANGPTL7 (ENSG00000171819), ANGPTL5 (ENSG00000187151)

Protein

Protein identifiers

Angiopoietin-related protein 2 — Q9UKU9 (reviewed: Q9UKU9)

Alternative names: Angiopoietin-like protein 2

All UniProt accessions (1): Q9UKU9

UniProt curated annotations — full annotation on UniProt →

Function. Induces sprouting in endothelial cells through an autocrine and paracrine action.

Subcellular location. Secreted.

Tissue specificity. Widely expressed in heart, small intestine, spleen and stomach. Also found in lower levels in colon, ovary, adrenal gland, skeletal muscle and in prostate.

Post-translational modifications. N-glycosylated.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UKU9-1	1	yes
Q9UKU9-2	2

RefSeq proteins (1): NP_036230* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002181	Fibrinogen_a/b/g_C_dom	Domain
IPR014716	Fibrinogen_a/b/g_C_1	Homologous_superfamily
IPR020837	Fibrinogen_CS	Conserved_site
IPR036056	Fibrinogen-like_C	Homologous_superfamily
IPR037579	FIB_ANG-like	Family

Pfam: PF00147

UniProt features (30 total): strand 13, helix 7, coiled-coil region 2, glycosylation site 2, disulfide bond 2, signal peptide 1, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6Y41	X-RAY DIFFRACTION	1.79

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKU9-F1	79.00	0.55

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 (2): 278–307, 430–443

Glycosylation sites (2): 164, 192

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 253 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, HONMA_DOCETAXEL_RESISTANCE, MCLACHLAN_DENTAL_CARIES_UP, PEREZ_TP63_TARGETS, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, COLIN_PILOCYTIC_ASTROCYTOMA_VS_GLIOBLASTOMA_UP, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING, GOBP_WOUND_HEALING, WATANABE_ULCERATIVE_COLITIS_WITH_CANCER_UP, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, MARTINEZ_RB1_TARGETS_UP

GO Biological Process (2): cell-cell signaling (GO:0007267), blood coagulation (GO:0007596)

GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (4): obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
signaling	1
hemostasis	1
wound healing	1
coagulation	1
protein binding	1
binding	1
external encapsulating structure	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANGPTL2	LILRB2	Q8N423	963
ANGPTL2	TEK	Q02763	842
ANGPTL2	TIE1	P35590	819
ANGPTL2	ITGA5	P08648	573
ANGPTL2	CXCR4	P30991	469
ANGPTL2	ITGB1	P05556	465
ANGPTL2	IGFBP2	P18065	438
ANGPTL2	ANGPTL8	Q6UXH0	420
ANGPTL2	HLA-G	P17693	418
ANGPTL2	MYH11	P35749	416
ANGPTL2	IGFBP3	P17936	411
ANGPTL2	MYLK	Q15746	404
ANGPTL2	FYN	P06241	390
ANGPTL2	HSPA1A	P08107	388
ANGPTL2	VASH1	Q7L8A9	387

IntAct

17 interactions, top by confidence:

A	B	Type	Score
LILRB2	ANGPTL2	psi-mi:“MI:0915”(physical association)	0.670
ANGPTL2	LILRB2	psi-mi:“MI:0915”(physical association)	0.670
LILRB2	ANGPTL2	psi-mi:“MI:0407”(direct interaction)	0.670
ANGPTL2	HSPA5	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
ANGPTL2	ANGPTL2	psi-mi:“MI:0915”(physical association)	0.400
Pirb	ANGPTL2	psi-mi:“MI:0915”(physical association)	0.400
FECH	POTEF	psi-mi:“MI:0914”(association)	0.350
ANGPTL2	GEMIN2	psi-mi:“MI:0914”(association)	0.350
DKK3	CCN2	psi-mi:“MI:0914”(association)	0.350
TMEM25	ATE1	psi-mi:“MI:0914”(association)	0.350
	TTC8	psi-mi:“MI:0914”(association)	0.350
ORF66	RALGAPA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): ZBTB2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), ANGPTL2 (Affinity Capture-MS), SUOX (Affinity Capture-MS), SH3GL1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), ZBTB2 (Affinity Capture-MS), ANGPTL2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8J8, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O77802, O95841, P02675, P02676, P02678, P02679, P02680, P04115, P12799, P12804, P14480, P17634, P21758, P30204, P86239, Q02020, Q08830, Q0P4P2, Q14314, Q15389, Q1RMR1, Q29RY7, Q3SZZ7, Q5EA66, Q5M8C6, Q5XK91, Q60FC1, Q640P2, Q6AX44, Q71KU9, Q86XS5, Q8K0E8

Diamond homologs: A0A8J8, A2AV25, D8VNS7, D8VNS8, D8VNS9, D8VNT0, E2IYB3, E9PV24, O00602, O08538, O15123, O18920, O35460, O35462, O35608, O43827, O70165, O70497, O75636, O77802, O93526, O95841, P02671, P02675, P02676, P02678, P02679, P02680, P04115, P06399, P10039, P12799, P12804, P14448, P14480, P17634, P19477, P21520, P22105, P24821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	69
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	Pathogenic

SpliceAI

1393 predictions. Top by Δscore:

Variant	Effect	Δscore
9:127091666:CTA:C	donor_loss	1.0000
9:127091667:TACC:T	donor_loss	1.0000
9:127091668:ACCT:A	donor_loss	1.0000
9:127091669:CCT:C	donor_loss	1.0000
9:127091936:CCT:C	acceptor_gain	1.0000
9:127091937:CTTG:C	acceptor_gain	1.0000
9:127093922:TGGGC:T	acceptor_gain	1.0000
9:127093923:GGGC:G	acceptor_gain	1.0000
9:127093924:GGC:G	acceptor_gain	1.0000
9:127093924:GGCC:G	acceptor_loss	1.0000
9:127093925:GC:G	acceptor_gain	1.0000
9:127093925:GCC:G	acceptor_loss	1.0000
9:127093926:CC:C	acceptor_gain	1.0000
9:127093926:CCTG:C	acceptor_loss	1.0000
9:127093927:C:CC	acceptor_gain	1.0000
9:127094931:ATGTT:A	donor_gain	1.0000
9:127089134:GTTTC:G	acceptor_gain	0.9900
9:127089135:TTTC:T	acceptor_gain	0.9900
9:127089136:TTC:T	acceptor_gain	0.9900
9:127089136:TTCC:T	acceptor_loss	0.9900
9:127089137:TC:T	acceptor_gain	0.9900
9:127089137:TCC:T	acceptor_loss	0.9900
9:127089138:CC:C	acceptor_gain	0.9900
9:127089138:CCTG:C	acceptor_loss	0.9900
9:127089139:C:CC	acceptor_gain	0.9900
9:127089140:T:A	acceptor_loss	0.9900
9:127091935:CCCT:C	acceptor_gain	0.9900
9:127091939:TG:T	acceptor_gain	0.9900
9:127091941:C:CC	acceptor_gain	0.9900
9:127093728:CTCA:C	donor_loss	0.9900

AlphaMissense

3230 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:127089017:C:A	W468C	1.000
9:127089017:C:G	W468C	1.000
9:127089019:A:G	W468R	1.000
9:127089019:A:T	W468R	1.000
9:127089027:C:A	G465V	1.000
9:127089027:C:T	G465E	1.000
9:127089028:C:G	G465R	1.000
9:127089028:C:T	G465R	1.000
9:127089031:C:G	D464H	1.000
9:127089072:C:A	G450V	1.000
9:127089072:C:T	G450E	1.000
9:127089073:C:A	G450W	1.000
9:127089073:C:G	G450R	1.000
9:127089073:C:T	G450R	1.000
9:127089074:G:C	N449K	1.000
9:127089074:G:T	N449K	1.000
9:127089080:G:C	N447K	1.000
9:127089080:G:T	N447K	1.000
9:127089092:A:C	C443W	1.000
9:127089093:C:A	C443F	1.000
9:127089093:C:G	C443S	1.000
9:127089093:C:T	C443Y	1.000
9:127089094:A:G	C443R	1.000
9:127089094:A:T	C443S	1.000
9:127089104:C:A	W439C	1.000
9:127089104:C:G	W439C	1.000
9:127089106:A:G	W439R	1.000
9:127089106:A:T	W439R	1.000
9:127089109:A:G	W438R	1.000
9:127089109:A:T	W438R	1.000

dbSNP variants (sampled 300 via entrez): RS1000049814 (9:127090893 G>A), RS1000054131 (9:127097175 T>G), RS1000105970 (9:127087935 A>C), RS1000123215 (9:127103644 G>C), RS1000171133 (9:127122021 G>A,T), RS1000203609 (9:127114700 G>A,T), RS1000338676 (9:127114399 C>A), RS1000436570 (9:127096820 T>A), RS1000606885 (9:127122153 C>T), RS1000766934 (9:127108718 C>T), RS1000991121 (9:127110804 G>C), RS1001067147 (9:127117041 A>T), RS1001096601 (9:127117280 T>A), RS1001185165 (9:127096632 T>C,G), RS1001199906 (9:127113111 G>C)

Disease associations

OMIM: gene MIM:605001 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST006394_84	Intraocular pressure	1.000000e-15
GCST007294_106	Body fat distribution (trunk fat ratio)	2.000000e-08
GCST007294_69	Body fat distribution (trunk fat ratio)	1.000000e-09
GCST007295_19	Body fat distribution (leg fat ratio)	1.000000e-09
GCST007295_78	Body fat distribution (leg fat ratio)	3.000000e-13
GCST009066_19	Mosaic loss of chromosome Y (Y chromosome dosage)	1.000000e-12
GCST010703_39	Brain morphology (MOSTest)	9.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0004341	body fat distribution
EFO:0007783	mosaic loss of chromosome Y measurement
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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression, affects cotreatment	2
Benzo(a)pyrene	decreases methylation, increases expression, increases methylation	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
ferrous chloride	decreases expression	1
CGP 52608	increases reaction, affects binding	1
deguelin	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
incobotulinumtoxinA	increases expression	1
(+)-JQ1 compound	decreases expression	1
Dasatinib	increases expression	1
Irinotecan	increases response to substance, affects cotreatment	1
Rosiglitazone	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Pioglitazone	decreases reaction, affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Troglitazone	decreases reaction, increases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Catechin	affects cotreatment, decreases expression	1
Leucovorin	affects cotreatment, increases response to substance	1
Cytarabine	decreases expression	1
Doxorubicin	decreases expression	1
Fluorouracil	affects cotreatment, increases response to substance	1

Clinical trials (associated diseases)

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