C1QTNF9

Summary

C1QTNF9 (C1q and TNF related 9, HGNC:28732) is a protein-coding gene on chromosome 13q12.12, encoding Complement C1q and tumor necrosis factor-related protein 9A (P0C862). Probable adipokine.

Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be part of collagen trimer.

Source: NCBI Gene 338872 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 91 total — 2 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_178540

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28732
Approved symbol	C1QTNF9
Name	C1q and TNF related 9
Location	13q12.12
Locus type	gene with protein product
Status	Approved
Aliases	MGC48915, CTRP9, C1QTNF9A, AQL1
Ensembl gene	ENSG00000240654
Ensembl biotype	protein_coding
OMIM	614285
Entrez	338872

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000332018, ENST00000382071, ENST00000875261, ENST00000949906, ENST00000949907

RefSeq mRNA: 3 — MANE Select: NM_178540 NM_001303137, NM_001303138, NM_178540

CCDS: CCDS9306

Canonical transcript exons

ENST00000332018 — 4 exons

Exon	Start	End
ENSE00003522597	24318818	24318880
ENSE00003691081	24315982	24316169
ENSE00003978162	24320996	24322531
ENSE00003978163	24309580	24309616

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 77.19.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0944 / max 26.4846, expressed in 42 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134442	0.0944	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.19	gold quality
apex of heart	UBERON:0002098	72.71	gold quality
hindlimb stylopod muscle	UBERON:0004252	72.01	gold quality
muscle of leg	UBERON:0001383	68.64	gold quality
gastrocnemius	UBERON:0001388	67.73	gold quality
omental fat pad	UBERON:0010414	65.06	gold quality
peritoneum	UBERON:0002358	64.99	gold quality
lower esophagus	UBERON:0013473	64.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	64.67	gold quality
heart left ventricle	UBERON:0002084	63.91	gold quality
adipose tissue of abdominal region	UBERON:0007808	63.72	gold quality
cardiac ventricle	UBERON:0002082	63.22	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	60.13	gold quality
muscle layer of sigmoid colon	UBERON:0035805	59.92	gold quality
smooth muscle tissue	UBERON:0001135	59.56	gold quality
heart	UBERON:0000948	59.53	gold quality
subcutaneous adipose tissue	UBERON:0002190	58.70	gold quality
gall bladder	UBERON:0002110	57.96	gold quality
tibial nerve	UBERON:0001323	57.95	gold quality
parietal pleura	UBERON:0002400	57.90	silver quality
skin of abdomen	UBERON:0001416	56.77	gold quality
skin of leg	UBERON:0001511	56.72	gold quality
adipose tissue	UBERON:0001013	56.71	gold quality
mucosa of transverse colon	UBERON:0004991	56.38	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	55.88	gold quality
esophagus	UBERON:0001043	55.75	gold quality
stromal cell of endometrium	CL:0002255	55.16	silver quality
right atrium auricular region	UBERON:0006631	55.09	gold quality
muscle tissue	UBERON:0002385	54.95	gold quality
transverse colon	UBERON:0001157	54.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting C1QTNF9, 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-3163	100.00	77.23	8605
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-19A-5P	99.36	66.93	1675

Literature-anchored findings (GeneRIF, showing 38)

• Serum CTRP9 concentrations were positively associated with favorable glucose or metabolic phenotypes and absence of metabolic syndrome, independent of serum total adiponectin concentrations. (PMID:24357853)
• Serum CTRP9 concentration was significantly and positively associated with arterial stiffness in patients with type 2 diabetes (PMID:25105737)
• Results demonstrate that CTRP9 alleviates hepatic steatosis through relief of endoplasmic reticulum stress via the AMPK-mediated induction of autophagy. (PMID:26419929)
• Circulating and coronary CTRP9 plays an important role in the inflammation and coronary atherosclerosis of CAD patients. Serum CTRP9 is an independent protective factor of CAD (PMID:26457306)
• Study demonstrates that CTRP9 attenuates cytokine-induced vascular inflammation in endothelial cells mediated by AMPK activation. (PMID:26523509)
• CTRP9 levels are elevated in obesity and significantly decrease following weight loss surgery. (PMID:26982010)
• The up-regulation of CTRP9 during hypertrophic heart disease facilitates maladaptive cardiac remodeling and left ventricular dysfunction. (PMID:27821723)
• Plasma CTRP9 levels are associated with atherosclerosis in diabetic patients without CKD, independently of obesity, adiponectin, and traditional cardiovascular risk factors (PMID:28070523)
• CTRP9 inhibits the cholesterol-induced Vascular smooth muscle cell phenotype switch and cell dysfunction by activating PRKAA1. (PMID:28524645)
• Authors demonstrate that CTRP9 regulates growth, differentiation, and apoptosis of HaCaT human keratinocytes. We found that CTRP9 augmented expression of transforming growth factor beta 1 (TGFbeta1) by transcription factor activator protein 1 (AP-1) binding activity and phosphorylation of p38 in a dose-dependent manner. (PMID:29145717)
• results revealed increased circulating levels of CTRP9 in T2DM and CAD individuals which suggests a compensatory response to insulin resistance, inflammatory milieu and endothelial dysfunction; however, more studies are needed to confirm this (PMID:29381773)
• suggesting the protective potentials of C1q tumour necrosis factor-related protein 9 in the progression of peripheral arterial disease in human type 2 diabetes mellitus (PMID:29543038)
• Serum CTRP9 is not independently related to NAFLD. (PMID:29704818)
• A single bout of high-intensity interval exercise may stimulate CTRP1 and CTRP9 secretions in healthy men. (PMID:29953821)
• Letter: CTRP9 is elevated in systemic sclerosis-associated interstitial lung disease. (PMID:30183591)
• Study findings indicate a potential role for serum level of MCP-1 in combination with CTRP3 and CTRP9 as a diagnostic and prognostic tool in type 2 diabetes (T2D) and coronary artery disease as a complication of T2D in Egyptian postmenopausal female patients. Negative correlation between MCP-1 and CTRP9 proposes that the anti-inflammatory action of CTRP9 results from reducing MCP-1 production. (PMID:30557342)
• the long-term existence of beta1- AA mAb suppresses cardiac CTRP 9 expression and exaggerates cardiac remodeling, suggesting that CTRP 9 may be a novel therapeutic target against pathologic remodeling in beta1- AA -positive patients with coronary heart disease (PMID:30764693)
• CTRP3 and CTRP9 are decreased in patients with heart failure with reduced ejection fraction, proportionate to disease severity, and each is associated with increased morbidity and mortality. (PMID:31182031)
• Our data here demonstrated that the CTRP9 showed atheroprotective function and could down-regulate the expression of NLRP3 protein and also the activity of NLRP3 inflammasome in ox-LDL activated macrophages. (PMID:31727560)
• CTRP9 Mediates Protective Effects in Cardiomyocytes via AMPK- and Adiponectin Receptor-Mediated Induction of Anti-Oxidant Response. (PMID:32429302)
• The serum selenium level is negatively correlated with CAD. The polymorphism of the CYP4F2 rs3093135 and CTRP9 rs9553238 was significantly related to the susceptibility of CAD, and there is a synergistic effect between the serum selenium level and the CTRP9 rs9553238 CC genotype, which significantly increases the risk of CAD. (PMID:32481463)
• CTRP9: An emerging potential anti-aging molecule in brain. (PMID:32540339)
• Protein-9 (CTRP9) levels associated with C1q tumor necrosis factor in obese preeclamptic, non-obese preeclamptic, obese and normal pregnant women. (PMID:32646256)
• Association of C1q/TNF-Related Protein-9 (CTRP9) Level with Obstructive Sleep Apnea in Patients with Coronary Artery Disease. (PMID:32831639)
• C1q/TNF-related Protein 9 Inhibits High Glucose-Induced Oxidative Stress and Apoptosis in Retinal Pigment Epithelial Cells Through the Activation of AMPK/Nrf2 Signaling Pathway. (PMID:33040597)
• C1q/TNF-related protein-9 attenuates palmitic acid-induced endothelial cell senescence via increasing autophagy. (PMID:33301838)
• Role of First-Trimester Serum C1q/TNF-Related Protein 9 in Gestational Diabetes Mellitus. (PMID:33337842)
• C1q/TNF-related protein-9 is elevated in hypertension and associated with the occurrence of hypertension-related atherogenesis. (PMID:33377578)
• Association of serum CTRP9 levels with cardiac autonomic neuropathy in patients with type 2 diabetes mellitus. (PMID:33417302)
• [Association between serum CTRP9 levels and diabetic retinopathy in patients with type 2 diabetes mellitus]. (PMID:33849840)
• Regulation of circulating CTRP-2/CTRP-9 and GDF-8/GDF-15 by intralipids and insulin in healthy control and polycystic ovary syndrome women following chronic exercise training. (PMID:33874963)
• Novel Adipokines CTRP1, CTRP9, and FGF21 in Pediatric Type 1 and Type 2 Diabetes: A Cross-Sectional Analysis. (PMID:35172300)
• Increased Levels of ANGPTL3 and CTRP9 in Patients With Obstructive Sleep Apnea and Their Relation to Insulin Resistance and Lipid Metabolism and Markers of Endothelial Dysfunction. (PMID:35976955)
• Serum CTRP9 and high-molecular weight adiponectin are associated with ischemic stroke. (PMID:36380279)
• C1q/tumor necrosis factor-related protein-9 exerts antioxidant and anti-inflammatory effects on oxygen-glucose deprivation/reoxygenation-stimulated neurons by modulating the Akt-GSK-3beta-Nrf2 cascade via AdipoR1. (PMID:36996742)
• Association Between Circulating Levels of C1q/TNF-Related Protein-9 and Type 2 Diabetes Mellitus: A Systematic Review and Meta-analysis. (PMID:37029975)
• CTRP9 alleviates hypoxia/reoxygenation-induced human placental vascular endothelial cells impairment and mitochondrial dysfunction through activating AMPK/Nrf2 signaling. (PMID:37774521)
• Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study. (PMID:38567599)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	c1qtnf9	ENSDARG00000058318
mus_musculus	C1qtnf9	ENSMUSG00000071347
rattus_norvegicus	C1qtnf9	ENSRNOG00000013793

Paralogs (23): C1QTNF3 (ENSG00000082196), COL19A1 (ENSG00000082293), PDCD7 (ENSG00000090470), COL10A1 (ENSG00000123500), C1QL1 (ENSG00000131094), C1QTNF6 (ENSG00000133466), 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)

Protein

Protein identifiers

Complement C1q and tumor necrosis factor-related protein 9A — P0C862 (reviewed: P0C862)

Alternative names: Complement C1q and tumor necrosis factor-related protein 9

All UniProt accessions (2): P0C862, A0A3B0J259

UniProt curated annotations — full annotation on UniProt →

Function. Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.

Subunit / interactions. Multimers (predominantly trimers). Interacts with ADIPOQ via the C1q domain to form a heterotrimeric complex. Interacts with CTRP9B. Forms heterotrimers and heterooligomeric complexes with CTRP9B.

Subcellular location. Secreted.

Tissue specificity. Expressed predominantly in adipose tissue.

RefSeq proteins (3): NP_001290066, NP_001290067, NP_848635* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001073	C1q_dom	Domain
IPR008160	Collagen	Repeat
IPR008983	Tumour_necrosis_fac-like_dom	Homologous_superfamily
IPR050392	Collagen/C1q_domain	Family

Pfam: PF00386, PF01391

UniProt features (26 total): modified residue 11, domain 4, sequence variant 3, compositionally biased region 3, glycosylation site 2, signal peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C862-F1	65.61	0.36

Functional residue map

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

Post-translational modifications (11): 31, 34, 40, 58, 61, 64, 73, 127, 151, 160, 175

Glycosylation sites (2): 73, 127

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 37 (showing top): GOCC_COLLAGEN_TRIMER, GOMF_SIGNALING_RECEPTOR_BINDING, GOMF_HORMONE_ACTIVITY, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, MIR548AA_MIR548AP_3P_MIR548T_3P, MIR3680_3P, MIR766_5P, MIR2054, MIR19A_5P, MIR19B_1_5P_MIR19B_2_5P, MIR3128, MIR1301_3P_MIR5047, GSE11864_CSF1_PAM3CYS_VS_CSF1_IFNG_PAM3CYS_IN_MAC_DN, GSE13306_TREG_VS_TCONV_UP, GSE13306_RA_VS_UNTREATED_TCONV_UP

GO Biological Process (1): signal transduction (GO:0007165)

GO Molecular Function (3): hormone activity (GO:0005179), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), collagen trimer (GO:0005581)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
receptor ligand activity	1
protein binding	1
binding	1
cellular anatomical structure	1
protein-containing complex	1

Protein interactions and networks

STRING

474 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1QTNF9	C1QTNF12	Q5T7M4	600
C1QTNF9	ADIPOR1	Q96A54	571
C1QTNF9	ERFE	Q4G0M1	527
C1QTNF9	LY96	Q9Y6Y9	499
C1QTNF9	SIRT1	Q96EB6	469
C1QTNF9	C1QL1	O75973	468
C1QTNF9	STAT3	P40763	461
C1QTNF9	C1QL4	Q86Z23	449
C1QTNF9	CXorf49C	A0A1B0GWI6	447
C1QTNF9	C1QL3	Q5VWW1	446
C1QTNF9	C1QL2	Q7Z5L3	442
C1QTNF9	MMP3	P08254	418
C1QTNF9	MYC	P01106	416
C1QTNF9	SGPL1	O95470	411
C1QTNF9	LTBR	P36941	386

IntAct

27 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0915”(physical association)	0.780
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
C1QTNF9	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.520
C1QTNF9	ADIPOQ	psi-mi:“MI:0915”(physical association)	0.400
ACTC1	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF9	AMPD1	psi-mi:“MI:0915”(physical association)	0.000
APPL1	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
DENND4A	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF9	DST	psi-mi:“MI:0915”(physical association)	0.000
EIF4G2	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF9	GYG1	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF9	LARP4B	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF9	MYBPC1	psi-mi:“MI:0915”(physical association)	0.000
MYOM1	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
NAP1L1	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
NDUFS1	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
RDX	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
C1QTNF9	TTN	psi-mi:“MI:0915”(physical association)	0.000
UTRN	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
ZNF407	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000
CAPN3	C1QTNF9	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (63): COLGALT2 (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), DHRS4 (Affinity Capture-MS), PHKA1 (Affinity Capture-MS), C1QTNF9B (Affinity Capture-MS), MGEA5 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A1 (Affinity Capture-MS), C1QL1 (Affinity Capture-MS), METAP2 (Affinity Capture-MS), TSNAX (Affinity Capture-MS), COL4A2 (Affinity Capture-MS), LEPREL2 (Affinity Capture-MS), COL18A1 (Affinity Capture-MS), COL2A1 (Affinity Capture-MS)

ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WGB1, A8WR59, B2RNN3, B7Z0K8, C7DZK3, O35167, O35348, O76368, O88207, P0C862, P12107, P13942, P20908, P20909, P23805, P25067, P25318, P25940, P42916, P83371, P98085, Q03637, Q07092, Q07563, Q0II24, Q0VF58, Q17RW2, Q30D77, Q32S24, Q3MI99, Q4ZJM7, Q4ZJN1, Q60467, Q61245, Q64739, Q6UXH8

Diamond homologs: A0A060WQA3, A5PN28, A6NHN0, B2RNN3, O75973, O88992, P02745, P02746, P08125, P0C862, P14106, P14282, P23206, P25067, P25318, P27658, P31720, P31721, P83371, P98085, P98086, Q00780, Q02105, Q03692, Q05306, Q05A80, Q06575, Q06576, Q06577, Q0II24, Q15848, Q2KIU3, Q2KIX7, Q3Y5Z3, Q4ZJM7, Q4ZJM9, Q4ZJN1, Q5E9E3, Q5FVH0, Q5RJ80

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	71
Likely benign	12
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
393738	GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1	Pathogenic
4526762	NC_000013.11:g.22928042_24349936del	Pathogenic
545158	NC_000013.11:g.(?22968338)(24323208_?)del	Likely pathogenic

SpliceAI

1176 predictions. Top by Δscore:

Variant	Effect	Δscore
13:24318816:A:AG	acceptor_gain	0.9900
13:24318817:G:GG	acceptor_gain	0.9900
13:24318817:GGA:G	acceptor_gain	0.9900
13:24318877:CGAGG:C	donor_loss	0.9900
13:24318878:GAG:G	donor_gain	0.9900
13:24318878:GAGGT:G	donor_loss	0.9900
13:24318880:GGTT:G	donor_loss	0.9900
13:24318881:G:T	donor_loss	0.9900
13:24318882:T:A	donor_loss	0.9900
13:24320991:TTTA:T	acceptor_loss	0.9900
13:24320992:TTA:T	acceptor_loss	0.9900
13:24320994:A:AG	acceptor_gain	0.9900
13:24320995:G:GG	acceptor_gain	0.9900
13:24315981:GTTCA:G	acceptor_gain	0.9800
13:24318493:A:T	donor_gain	0.9800
13:24318513:G:GG	donor_gain	0.9800
13:24318812:A:AG	acceptor_gain	0.9800
13:24318813:C:G	acceptor_gain	0.9800
13:24318816:A:C	acceptor_loss	0.9800
13:24318817:G:A	acceptor_loss	0.9800
13:24318817:G:GC	acceptor_loss	0.9800
13:24318881:G:GG	donor_gain	0.9800
13:24321059:G:GT	donor_gain	0.9800
13:24307298:TTG:T	donor_gain	0.9700
13:24315980:A:AG	acceptor_gain	0.9700
13:24315981:G:GG	acceptor_gain	0.9700
13:24318817:GGAGA:G	acceptor_gain	0.9700
13:24321060:A:T	donor_gain	0.9700
13:24314978:G:GG	donor_gain	0.9600
13:24318814:CTAGG:C	acceptor_gain	0.9600

AlphaMissense

2148 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:24321488:T:C	F241S	0.991
13:24321495:C:G	C243W	0.986
13:24321742:G:T	G326W	0.986
13:24321743:G:A	G326E	0.985
13:24321511:T:G	Y249D	0.983
13:24321518:T:C	F251S	0.983
13:24321493:T:C	C243R	0.982
13:24321650:T:C	L295P	0.980
13:24321523:T:G	Y253D	0.979
13:24321742:G:A	G326R	0.979
13:24321742:G:C	G326R	0.979
13:24321737:T:C	F324S	0.975
13:24321625:G:C	A287P	0.974
13:24321487:T:C	F241L	0.973
13:24321489:C:A	F241L	0.973
13:24321489:C:G	F241L	0.973
13:24316134:G:A	G44E	0.969
13:24321494:G:A	C243Y	0.968
13:24316125:G:A	G41E	0.966
13:24321536:T:A	V257D	0.966
13:24321745:T:C	F327L	0.965
13:24321747:C:A	F327L	0.965
13:24321747:C:G	F327L	0.965
13:24321376:T:C	F204L	0.964
13:24321378:C:A	F204L	0.964
13:24321378:C:G	F204L	0.964
13:24321749:T:C	L328P	0.964
13:24321488:T:G	F241C	0.963
13:24316116:G:A	G38D	0.962
13:24321551:T:A	V262D	0.962

dbSNP variants (sampled 300 via entrez): RS1000172613 (13:24315095 T>C), RS1000204061 (13:24317413 T>C), RS1000271817 (13:24310386 C>T), RS1000304659 (13:24320393 TA>T), RS1000627158 (13:24311554 G>C,T), RS1000840569 (13:24305922 G>C), RS1001012723 (13:24311778 C>G), RS1001275853 (13:24308838 A>G), RS1001304478 (13:24319269 T>C), RS1001358065 (13:24319454 G>A,C), RS1001460152 (13:24313678 C>T), RS1001522163 (13:24305637 G>T), RS1001581033 (13:24313888 C>T), RS1001894793 (13:24310246 C>G,T), RS1002646193 (13:24306152 T>C)

Disease associations

OMIM: gene MIM:614285 | disease phenotypes: MIM:181500

GenCC curated gene-disease

Mondo (2): neuromuscular disease (MONDO:0019056), schizophrenia (MONDO:0005090)

Orphanet (2): Neuromuscular disease (Orphanet:68381), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0100753	Schizophrenia

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009468	Neuromuscular Diseases	C10.668

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Valproic Acid	increases methylation	1
Copper Sulfate	increases expression	1
Particulate Matter	decreases secretion, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00331656	PHASE4	UNKNOWN	Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552	PHASE4	UNKNOWN	Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia