C1QTNF6

Summary

C1QTNF6 (C1q and TNF related 6, HGNC:14343) is a protein-coding gene on chromosome 22q12.3, encoding Complement C1q tumor necrosis factor-related protein 6 (Q9BXI9).

Enables identical protein binding activity. Predicted to be located in extracellular region and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular space.

Source: NCBI Gene 114904 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 62 total — 1 pathogenic
• MANE Select transcript: NM_031910

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14343
Approved symbol	C1QTNF6
Name	C1q and TNF related 6
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	CTRP6, ZACRP6
Ensembl gene	ENSG00000133466
Ensembl biotype	protein_coding
OMIM	614910
Entrez	114904

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000337843, ENST00000397110, ENST00000434784, ENST00000467564, ENST00000470655, ENST00000493023, ENST00000497071, ENST00000880425

RefSeq mRNA: 3 — MANE Select: NM_031910 NM_001365878, NM_031910, NM_182486

CCDS: CCDS13943

Canonical transcript exons

ENST00000337843 — 3 exons

Exon	Start	End
ENSE00001185703	37188163	37188247
ENSE00001815001	37180166	37182735
ENSE00003559901	37185218	37185455

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 92.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0713 / max 557.7825, expressed in 1226 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194010	7.3253	1043
194012	1.7416	829
194011	0.5290	356
194015	0.3374	155
194014	0.1322	84
194013	0.0057	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	92.65	gold quality
right uterine tube	UBERON:0001302	90.88	gold quality
stromal cell of endometrium	CL:0002255	87.57	gold quality
right lobe of liver	UBERON:0001114	86.36	gold quality
right adrenal gland cortex	UBERON:0035827	83.76	gold quality
placenta	UBERON:0001987	83.54	gold quality
right adrenal gland	UBERON:0001233	83.03	gold quality
endocervix	UBERON:0000458	82.71	gold quality
left adrenal gland cortex	UBERON:0035825	81.64	gold quality
mucosa of transverse colon	UBERON:0004991	81.36	gold quality
smooth muscle tissue	UBERON:0001135	81.10	gold quality
gall bladder	UBERON:0002110	81.07	gold quality
vermiform appendix	UBERON:0001154	80.95	gold quality
left adrenal gland	UBERON:0001234	80.91	gold quality
adrenal cortex	UBERON:0001235	80.35	gold quality
right testis	UBERON:0004534	79.57	gold quality
left testis	UBERON:0004533	79.50	gold quality
body of uterus	UBERON:0009853	79.43	gold quality
transverse colon	UBERON:0001157	79.02	gold quality
ectocervix	UBERON:0012249	78.94	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.79	gold quality
apex of heart	UBERON:0002098	78.78	gold quality
adrenal gland	UBERON:0002369	78.69	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.69	gold quality
sural nerve	UBERON:0015488	78.64	gold quality
metanephros cortex	UBERON:0010533	78.51	gold quality
secondary oocyte	CL:0000655	78.50	gold quality
spleen	UBERON:0002106	78.17	gold quality
tibial nerve	UBERON:0001323	77.77	gold quality
left ovary	UBERON:0002119	77.38	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	87.42
E-MTAB-6678	yes	16.29
E-ANND-3	yes	3.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting C1QTNF6, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-423-5P	98.69	67.48	1522

Literature-anchored findings (GeneRIF, showing 26)

• C1qTNF6 is overexpressed and possibly contributes to tumor angiogenesis by activating the Akt pathway in many hepatocellular carcinomas. (PMID:21508531)
• AMPK and Akt activation are responsible for the CTRP6-mediated anti-fibrotic effect by targeting RhoA/MRTF-A pathway (PMID:25962701)
• CTRP6 is expressed in human synoviocytes, and CTRP6 levels are increased in RA patients. (PMID:26404464)
• CTRP6 inhibits the proliferation and migration of ovarian cancer cells via blocking IL-8/VEGF pathway. (PMID:26648301)
• CTRP6 expression was decreased in scar tissues and TGF-beta1-treated dermal fibroblasts. CTRP6 inhibits TGF-beta1-induced the proliferation of dermal fibroblasts. (PMID:27155158)
• We found both the rs229527 allele within C1QTNF6 (odds ratio [OR] = 1.23, confidence interval [95% CI]: 1.12-1.33, pAllelic = 4.60 . 10-6) and the rs2284038 allele within RAC2 (OR = 1.10, 95% CI: 1.01-0.19, pAllelic = 3.00 . 10-2) showed significant associations with Graves’ Disease susceptibility. (PMID:28665696)
• The results establish CTRP6 as a novel metabolic/immune regulator linking obesity to adipose tissue inflammation and insulin resistance. (PMID:28726640)
• CTRP6 may be a metabolism- and nutrition-related adipokine and may be related to insulin resistance and T2 Diabetes mellitus. (PMID:30083983)
• C1QTNF6 is involved in promoting the proliferation and migration, and in reducing the apoptosis of gastric carcinoma cells. (PMID:30431096)
• Inhibition of CTRP6 prevented survival and migration in hepatocellular carcinoma through inactivating the AKT signaling pathway. (PMID:31111552)
• aberrant C1QTNF6 expression was implicated in terrible prognosis accompanying with the damage of relevant cell potential in lung adenocarcinoma. (PMID:31292940)
• C1q/TNF-Related Protein 6 Is a Pattern Recognition Molecule That Recruits Collectin-11 from the Complement System to Ligands. (PMID:32041782)
• Knockdown of CTRP6 inhibits high glucose-induced oxidative stress, inflammation and extracellular matrix accumulation in mesangial cells through regulating the Akt/NF-kappaB pathway. (PMID:32077518)
• Circulating levels of C1q/TNF-alpha-related protein 6 (CTRP6) in polycystic ovary syndrome. (PMID:32170998)
• C1QTNF6 as a Novel Diagnostic and Prognostic Biomarker for Clear Cell Renal Cell Carcinoma (PMID:32282241)
• C1QTNF6 Overexpression Acts as a Predictor of Poor Prognosis in Bladder Cancer Patients. (PMID:33123583)
• Role of the CTRP6/AMPK pathway in kidney fibrosis through the promotion of fatty acid oxidation. (PMID:33245899)
• C1QTNF6 regulates cell proliferation and apoptosis of NSCLC in vitro and in vivo. (PMID:33269376)
• Adipocyte factor CTRP6 inhibits homocysteine-induced proliferation, migration, and dedifferentiation of vascular smooth muscle cells through PPARgamma/NLRP3. (PMID:34469206)
• CTRP6 rapidly responds to acute nutritional changes, regulating adipose tissue expansion and inflammation in mice. (PMID:34632797)
• C1q/tumor necrosis factor related protein 6 (CTRP6) regulates the phenotypes of high glucose-induced gestational trophoblast cells via peroxisome proliferator-activated receptor gamma (PPARgamma) signaling. (PMID:34964705)
• Potential participation of CTRP6, a complement regulator, in the pathology of age related macular degeneration. (PMID:35397057)
• MiR-29c-3p/C1QTNF6 Restrains the Angiogenesis and Cell Proliferation, Migration and Invasion in Head and Neck Squamous Cell Carcinoma. (PMID:36348139)
• CTRP6 protects against ferroptosis to drive lung cancer progression and metastasis by destabilizing SOCS2 and augmenting the xCT/GPX4 pathway. (PMID:38084702)
• Down regulation of C1q tumor necrosis factor-related protein 6 is associated with increased risk of breast cancer. (PMID:38750921)
• CTRP6 alleviates endometrial fibrosis by regulating Smad3 pathway in intrauterine adhesiondagger. (PMID:38984926)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	c1qtnf6a	ENSDARG00000055175
mus_musculus	C1qtnf6	ENSMUSG00000022440
rattus_norvegicus	C1qtnf6	ENSRNOG00000007300

Paralogs (23): C1QTNF3 (ENSG00000082196), COL19A1 (ENSG00000082293), PDCD7 (ENSG00000090470), COL10A1 (ENSG00000123500), C1QL1 (ENSG00000131094), C1QL2 (ENSG00000144119), COL8A1 (ENSG00000144810), C1QTNF2 (ENSG00000145861), C1QC (ENSG00000159189), C1QTNF7 (ENSG00000163145), C1QL3 (ENSG00000165985), COL8A2 (ENSG00000171812), C1QTNF4 (ENSG00000172247), C1QB (ENSG00000173369), C1QA (ENSG00000173372), C1QTNF1 (ENSG00000173918), ADIPOQ (ENSG00000181092), OTOL1 (ENSG00000182447), C1QTNF8 (ENSG00000184471), C1QL4 (ENSG00000186897), C1QTNF9B (ENSG00000205863), C1QTNF5 (ENSG00000223953), C1QTNF9 (ENSG00000240654)

Protein

Protein identifiers

Complement C1q tumor necrosis factor-related protein 6 — Q9BXI9 (reviewed: Q9BXI9)

All UniProt accessions (2): Q9BXI9, F8WC87

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BXI9-2	1	yes
Q9BXI9-1	2
Q9BXI9-3	3

RefSeq proteins (3): NP_001352807, NP_114116, NP_872292 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001073	C1q_dom	Domain
IPR008160	Collagen	Repeat
IPR008983	Tumour_necrosis_fac-like_dom	Homologous_superfamily
IPR050822	Cerebellin_Synaptic_Org	Family

Pfam: PF00386, PF01391

UniProt features (13 total): sequence variant 5, domain 2, splice variant 2, signal peptide 1, chain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXI9-F1	77.42	0.49

Functional residue map

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

Glycosylation sites (1): 91

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 103 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GOCC_COLLAGEN_TRIMER, RACCACAR_AML_Q6, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, FREAC3_01, AML_Q6, ROZANOV_MMP14_TARGETS_UP, HFH1_01, RYTTCCTG_ETS2_B, PIT1_Q6, CART1_01, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, NERF_Q2, GAVIN_FOXP3_TARGETS_CLUSTER_P3

GO Biological Process (0):

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (5): collagen trimer (GO:0005581), obsolete extracellular space (GO:0005615), extracellular region (GO:0005576), membrane (GO:0016020), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein binding	1
binding	1
protein-containing complex	1
cellular_component	1

Protein interactions and networks

STRING

514 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1QTNF6	BACH2	Q9BYV9	680
C1QTNF6	CTSH	P09668	661
C1QTNF6	TAGAP	Q8N103	639
C1QTNF6	CLEC16A	Q2KHT3	624
C1QTNF6	PTPN2	P17706	583
C1QTNF6	UBASH3A	P57075	571
C1QTNF6	NAA25	Q14CX7	565
C1QTNF6	SH2B3	Q9UQQ2	563
C1QTNF6	PRKCQ	Q04759	554
C1QTNF6	C1QTNF12	Q5T7M4	511
C1QTNF6	SSTR3	P32745	504
C1QTNF6	PTPN22	Q9Y2R2	479
C1QTNF6	C1QTNF1	Q9BXJ1	475
C1QTNF6	PTPRN	Q16849	464
C1QTNF6	ERBB3	P21860	434

IntAct

32 interactions, top by confidence:

A	B	Type	Score
SGTA	C1QTNF6	psi-mi:“MI:0915”(physical association)	0.720
C1QTNF6	SGTA	psi-mi:“MI:0915”(physical association)	0.720
rep	C1QTNF6	psi-mi:“MI:0915”(physical association)	0.600
SGTB	C1QTNF6	psi-mi:“MI:0915”(physical association)	0.560
C1QTNF6	C1QTNF1	psi-mi:“MI:0915”(physical association)	0.560
PLOD3	PLOD2	psi-mi:“MI:0914”(association)	0.530
ECE1	C1QTNF6	psi-mi:“MI:0915”(physical association)	0.370
Mad2l1bp	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
VPS16	TTC31	psi-mi:“MI:0914”(association)	0.350
Ndel1	VEZF1	psi-mi:“MI:0914”(association)	0.350
Ppp6r1	PPP6C	psi-mi:“MI:0914”(association)	0.350
Cenph	CENPX	psi-mi:“MI:0914”(association)	0.350
ANAPC15		psi-mi:“MI:0914”(association)	0.350
Ring1	CENPX	psi-mi:“MI:0914”(association)	0.350
PML	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350
C1QTNF1	PLOD2	psi-mi:“MI:0914”(association)	0.350
C1QTNF2	FCHO1	psi-mi:“MI:0914”(association)	0.350
C1QTNF6	SGTA	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF6	SGTB	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF6	C1QTNF1	psi-mi:“MI:0915”(physical association)	0.000
SGTA	C1QTNF6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): C1QTNF6 (Two-hybrid), SGTA (Two-hybrid), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Two-hybrid), C1QTNF1 (Two-hybrid), SGTB (Two-hybrid), C1QTNF6 (Affinity Capture-MS), C1QTNF6 (Affinity Capture-MS)

ESM2 similar proteins: A0A060WQA3, A6NHN0, B2RNN3, O95150, P02745, P02746, P02747, P0C862, P14106, P23805, P31720, P31721, P31722, P49874, P98085, P98086, Q02105, Q06575, Q06576, Q06577, Q0II24, Q15848, Q2KIT0, Q2KIU3, Q2KIV9, Q2KIX7, Q3T1I2, Q3Y5Z3, Q4ZJM7, Q4ZJN1, Q5E9E3, Q5UBV8, Q5XIG2, Q60994, Q69DL0, Q6IR41, Q6RXL1, Q80WL1, Q8BVD7, Q8IWL1

Diamond homologs: A1L251, F4JZC2, P0C7A1, P60827, Q3T1I2, Q5XIG2, Q6IR41, Q8BX80, Q8NFI3, Q9BXI9, Q9BXJ1, Q9QXP7, Q9SRL4, A0A060WQA3, A5PN28, A6NHN0, B2RNN3, O75973, O88992, P02745, P02746, P02747, P08125, P0C862, P14106, P14282, P23206, P25067, P25318, P27658, P31720, P31721, P31722, P83371, P98085, P98086, Q00780, Q02105, Q03692, Q05306

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	54
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	Pathogenic

SpliceAI

613 predictions. Top by Δscore:

Variant	Effect	Δscore
22:37185213:CTCA:C	donor_loss	1.0000
22:37185214:TCACC:T	donor_loss	1.0000
22:37185215:CACCC:C	donor_loss	1.0000
22:37185216:A:C	donor_loss	1.0000
22:37185216:AC:A	donor_gain	1.0000
22:37185217:C:CA	donor_loss	1.0000
22:37185217:CC:C	donor_gain	1.0000
22:37185217:CCCTT:C	donor_gain	1.0000
22:37185211:CACT:C	donor_loss	0.9900
22:37185212:ACTC:A	donor_loss	0.9900
22:37185216:A:AC	donor_gain	0.9900
22:37185216:ACC:A	donor_gain	0.9900
22:37185217:C:CC	donor_gain	0.9900
22:37185217:CCC:C	donor_gain	0.9900
22:37185217:CCCT:C	donor_gain	0.9900
22:37185454:ACC:A	acceptor_loss	0.9900
22:37185455:CCTG:C	acceptor_loss	0.9900
22:37185456:CTGGA:C	acceptor_loss	0.9900
22:37185457:T:A	acceptor_loss	0.9900
22:37185886:T:A	donor_gain	0.9900
22:37182732:TCACC:T	acceptor_loss	0.9800
22:37182734:ACC:A	acceptor_loss	0.9800
22:37182735:CCTGT:C	acceptor_loss	0.9800
22:37182736:C:G	acceptor_loss	0.9800
22:37182737:T:A	acceptor_loss	0.9800
22:37185456:C:CC	acceptor_gain	0.9800
22:37185462:C:CT	acceptor_gain	0.9800
22:37185873:C:A	donor_gain	0.9800
22:37188161:AC:A	donor_gain	0.9800
22:37188162:CC:C	donor_gain	0.9800

AlphaMissense

1851 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:37182222:A:G	F268S	0.997
22:37182285:C:G	R247P	0.997
22:37182454:A:C	Y191D	0.997
22:37182587:G:C	F146L	0.997
22:37182587:G:T	F146L	0.997
22:37182589:A:G	F146L	0.997
22:37182332:G:C	S231R	0.996
22:37182332:G:T	S231R	0.996
22:37182334:T:G	S231R	0.996
22:37182447:A:G	F193S	0.996
22:37182586:A:G	S147P	0.996
22:37182216:C:T	G270D	0.995
22:37182248:G:C	S259R	0.995
22:37182248:G:T	S259R	0.995
22:37182250:T:G	S259R	0.995
22:37182441:A:G	L195P	0.995
22:37182588:A:G	F146S	0.995
22:37182218:G:C	S269R	0.994
22:37182218:G:T	S269R	0.994
22:37182220:T:G	S269R	0.994
22:37182294:A:T	V244D	0.994
22:37182326:A:C	S233R	0.994
22:37182326:A:T	S233R	0.994
22:37182328:T:G	S233R	0.994
22:37182428:G:C	S199R	0.994
22:37182428:G:T	S199R	0.994
22:37182430:T:G	S199R	0.994
22:37182531:A:C	F165C	0.994
22:37182576:C:G	R150P	0.994
22:37182221:G:C	F268L	0.992

dbSNP variants (sampled 300 via entrez): RS1000110474 (22:37188348 C>G,T), RS1000167599 (22:37195061 A>C), RS1000399092 (22:37188603 A>G), RS1000438586 (22:37180434 G>A), RS1000533829 (22:37191295 T>A), RS1000564920 (22:37191039 T>A,C), RS1000757994 (22:37185812 C>T), RS1000947620 (22:37190158 T>C,G), RS1000989623 (22:37184630 G>A,C), RS1001062477 (22:37189860 G>A), RS1001143814 (22:37196901 A>C), RS1001338243 (22:37184403 C>A,T), RS1001386546 (22:37184154 A>G), RS1001497695 (22:37189140 G>A,C), RS1001548424 (22:37189358 T>C)

Disease associations

OMIM: gene MIM:614910 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000258_4	Type 1 diabetes	2.000000e-08
GCST000392_34	Type 1 diabetes	2.000000e-07
GCST000662_8	Vitiligo	2.000000e-16
GCST001474_8	Hypothyroidism	9.000000e-06
GCST001984_3	Graves’ disease	5.000000e-20
GCST002408_16	Response to methotrexate in juvenile idiopathic arthritis	9.000000e-06
GCST003988_15	Hypothyroidism	1.000000e-10
GCST004785_36	Vitiligo	1.000000e-30
GCST005536_51	Type 1 diabetes	2.000000e-08
GCST005752_38	Systemic lupus erythematosus	2.000000e-07
GCST007932_70	Medication use (thyroid preparations)	1.000000e-27
GCST009875_23	Type 1 diabetes	7.000000e-09
GCST010571_93	Autoimmune thyroid disease	3.000000e-30
GCST90002382_510	Eosinophil percentage of white cells	5.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009933	Thyroid preparation use measurement
EFO:0007991	eosinophil percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs114557570	C1QTNF6		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases reaction, affects acetylation, decreases expression, increases abundance, affects expression (+2 more)	4
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
monomethylarsonous acid	affects acetylation, affects methylation, decreases expression, increases methylation	2
Decitabine	decreases reaction, affects expression, affects cotreatment, affects methylation	2
Arsenic	affects cotreatment, decreases expression, increases abundance, affects expression	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
Particulate Matter	increases abundance, decreases expression, decreases reaction	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
dicrotophos	increases expression	1
beauvericin	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
propionaldehyde	decreases expression	1
trichostatin A	affects cotreatment, affects methylation, decreases reaction	1
arsenite	decreases expression, increases methylation	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
pentanal	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
bazedoxifene	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists