C1QTNF1
gene geneOn this page
Also known as CTRP1ZSIG37GIPFLJ90694
Summary
C1QTNF1 (C1q and TNF related 1, HGNC:14324) is a protein-coding gene on chromosome 17q25.3, encoding Complement C1q tumor necrosis factor-related protein 1 (Q9BXJ1).
Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space and plasma membrane.
Source: NCBI Gene 114897 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 82 total
- MANE Select transcript:
NM_030968
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14324 |
| Approved symbol | C1QTNF1 |
| Name | C1q and TNF related 1 |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CTRP1, ZSIG37, GIP, FLJ90694 |
| Ensembl gene | ENSG00000173918 |
| Ensembl biotype | protein_coding |
| OMIM | 610365 |
| Entrez | 114897 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 30 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000311661, ENST00000339142, ENST00000354124, ENST00000392445, ENST00000578229, ENST00000579760, ENST00000580454, ENST00000580474, ENST00000581774, ENST00000582295, ENST00000582625, ENST00000583904, ENST00000885300, ENST00000885301, ENST00000885302, ENST00000885303, ENST00000885304, ENST00000885305, ENST00000885306, ENST00000885307, ENST00000885308, ENST00000951174, ENST00000951175, ENST00000951176, ENST00000951177, ENST00000951178, ENST00000951179, ENST00000951180, ENST00000951181, ENST00000951182, ENST00000951183, ENST00000951184
RefSeq mRNA: 4 — MANE Select: NM_030968
NM_030968, NM_153372, NM_198593, NM_198594
CCDS: CCDS11761, CCDS11762
Canonical transcript exons
ENST00000579760 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001511972 | 79024169 | 79024494 |
| ENSE00001552012 | 79047538 | 79049788 |
| ENSE00003610222 | 79046555 | 79046694 |
| ENSE00003715766 | 79043955 | 79044123 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 99.00.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.2663 / max 626.7269, expressed in 1280 samples.
FANTOM5 promoters (19 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163154 | 10.4295 | 1120 |
| 163152 | 3.2902 | 709 |
| 163157 | 3.1337 | 957 |
| 163155 | 1.3776 | 494 |
| 163156 | 0.9788 | 468 |
| 163151 | 0.7136 | 326 |
| 163160 | 0.6800 | 337 |
| 163149 | 0.3156 | 71 |
| 163159 | 0.2795 | 171 |
| 163153 | 0.2612 | 127 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right coronary artery | UBERON:0001625 | 99.00 | gold quality |
| popliteal artery | UBERON:0002250 | 98.94 | gold quality |
| tibial artery | UBERON:0007610 | 98.94 | gold quality |
| left coronary artery | UBERON:0001626 | 98.89 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.68 | gold quality |
| aorta | UBERON:0000947 | 98.53 | gold quality |
| coronary artery | UBERON:0001621 | 98.52 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.52 | gold quality |
| ascending aorta | UBERON:0001496 | 98.26 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.26 | gold quality |
| cardiac atrium | UBERON:0002081 | 97.62 | gold quality |
| omental fat pad | UBERON:0010414 | 97.61 | gold quality |
| peritoneum | UBERON:0002358 | 97.53 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.46 | gold quality |
| apex of heart | UBERON:0002098 | 97.06 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.03 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.63 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.82 | gold quality |
| heart left ventricle | UBERON:0002084 | 95.77 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 95.63 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.29 | gold quality |
| cardiac ventricle | UBERON:0002082 | 95.26 | gold quality |
| heart | UBERON:0000948 | 95.10 | gold quality |
| left uterine tube | UBERON:0001303 | 94.55 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.35 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.19 | gold quality |
| thyroid gland | UBERON:0002046 | 94.15 | gold quality |
| right adrenal gland | UBERON:0001233 | 94.03 | gold quality |
| right ovary | UBERON:0002118 | 93.86 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.80 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10596 | yes | 178.73 |
| E-CURD-112 | yes | 15.13 |
| E-ANND-3 | yes | 9.40 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| CYP11B2 | Activation |
| NR4A1 | Activation |
| NR4A2 | Activation |
miRNA regulators (miRDB)
61 targeting C1QTNF1, 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-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-409-3P | 99.50 | 66.33 | 1192 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
Literature-anchored findings (GeneRIF, showing 32)
- molecular cloning, gene expression, and subcellular localization of GIP (PMID:12409230)
- The review describes the potential role of C1qTNF1 as an intracellular regulator of signal transduction (PMID:16386877)
- These findings indicate that CTRP1 expression may be associated with a low-grade chronic inflammation status in adipose tissues. (PMID:16806199)
- CTRP1 enhances the production of aldosterone. CTRP1 was highly expressed in obese subjects as well as up-regulated in hypertensive patients, CTRP1 may be a newly identified molecular link between obesity and hypertension. (PMID:18171693)
- CTRP1 may be considered a novel adipokine, providing an important framework to further address the physiological functions and mechanisms of the action of this family of secreted glycoproteins in normal and disease states. (PMID:18783346)
- CTRP1 level was significantly higher in subjects with metabolic syndrome compared to healthy subjects. (PMID:23000311)
- CTRP1 is a novel adipokine associated with type 2 diabetes mellitus in humans. (PMID:24827430)
- The levels of circulating CTRP1 are associated with coronary artery disease in men. (PMID:24945145)
- Increased plasma CTRP1 was independently associated with type 2 diabetes. Profiling of plasma adipokines such as CTRP1 is particularly important to obtain a greater understanding of their contribution to the type 2 diabetic state. (PMID:24965225)
- The variation of plasma CTRP-1 and IL-6 concentrations may play an important role in reflecting the degree of inflammation in CHD and the severity of coronary arterial atherosclerosis. (PMID:25635749)
- the strong association of CTRP1 with insulin resistance in NAFLD (PMID:25767880)
- Increased serum CTRP 1 levels were closely associated with the prevalence and severity of CAD, it might be regarded as a marker for myocardial infarction. (PMID:27169633)
- CTRP1 has a role in linking dysregulation of lipid metabolism and inflammatory responses in macrophages (PMID:27175610)
- High serum CTRP1 level is associated with Type 2 diabetes mellitus. (PMID:28207876)
- In cultured endothelial cells, treatment of CTRP1 led to increased permeability to fluorescent-labelled dextran and apparent formation of paracellular holes as observed after disturbed flow exposure, which was evidently reduced in the presence of a CTRP1-specific neutralizing antibody. (PMID:28625919)
- CTRP1 may participate in the process of vasculitis and blood coagulation during the acute phase of Kawasaki Disease (PMID:29360808)
- A single bout of high-intensity interval exercise may stimulate CTRP1 and CTRP9 secretions in healthy men. (PMID:29953821)
- serum levels significantly elevated in both early-onset and late-onset pre-eclampsia (PMID:30103635)
- High serum CTRP1 levels are associated with coronary artery disease. (PMID:31081425)
- These findings suggest that CTRP1 potentially indicates poor prognosis in Glioblastoma (GBM) and promotes the progression of human GBM. (PMID:31183364)
- Implications of C1q/TNF-related protein superfamily in patients with coronary artery disease. (PMID:31965030)
- Hypomethylation of C1q/tumor necrosis factor-related protein-1 promoter region in whole blood and risks for coronary artery aneurysms in Kawasaki disease. (PMID:32081468)
- Methylation of CpG sites in C1QTNF1 (C1q and tumor necrosis factor related protein 1) differs by gender in acute coronary syndrome in Han population: a case-control study. (PMID:32383048)
- C1q/tumor necrosis factor-related protein-1 attenuates microglia autophagy and inflammatory response by regulating the Akt/mTOR pathway. (PMID:32569781)
- CTRP-1 levels are related to insulin resistance in pregnancy and gestational diabetes mellitus. (PMID:33060724)
- CTRP1 decreases ABCA1 expression and promotes lipid accumulation through the miR-424-5p/FoxO1 pathway in THP-1 macrophage-derived foam cells. (PMID:34288211)
- C1q Tumor Necrosis Factor-Related Protein 1: A Promising Therapeutic Target for Atherosclerosis. (PMID:34840267)
- Novel Adipokines CTRP1, CTRP9, and FGF21 in Pediatric Type 1 and Type 2 Diabetes: A Cross-Sectional Analysis. (PMID:35172300)
- C1q/TNF-related protein-1: Potential biomarker for early diagnosis of autism spectrum disorder. (PMID:35202556)
- CTRP1 prevents high fat diet-induced obesity and improves glucose homeostasis in obese and STZ-induced diabetic mice. (PMID:36195912)
- CTRP1: A novel player in cardiovascular and metabolic diseases. (PMID:36812667)
- The association between complement C1q tumour necrosis factor-related protein-1 (CTRP-1) level and metabolic syndrome. (PMID:37155309)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | c1qtnf1 | ENSDARG00000088878 |
| mus_musculus | C1qtnf1 | ENSMUSG00000017446 |
| rattus_norvegicus | C1qtnf1 | ENSRNOG00000003259 |
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), ADIPOQ (ENSG00000181092), OTOL1 (ENSG00000182447), C1QTNF8 (ENSG00000184471), C1QL4 (ENSG00000186897), C1QTNF9B (ENSG00000205863), C1QTNF5 (ENSG00000223953), C1QTNF9 (ENSG00000240654)
Protein
Protein identifiers
Complement C1q tumor necrosis factor-related protein 1 — Q9BXJ1 (reviewed: Q9BXJ1)
Alternative names: G protein-coupled receptor-interacting protein
All UniProt accessions (2): Q9BXJ1, A0A0C4DFP7
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Secreted.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BXJ1-1 | 1 | yes |
| Q9BXJ1-2 | 2 |
RefSeq proteins (4): NP_112230, NP_699203, NP_940995, NP_940996 (=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 (12 total): domain 2, region of interest 2, compositionally biased region 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXJ1-F1 | 74.80 | 0.48 |
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): 93
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 334 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_MEMORY, GOBP_REGULATION_OF_CELL_ACTIVATION, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_REGULATION_OF_COAGULATION, GOCC_SECRETORY_GRANULE, GOCC_COLLAGEN_TRIMER, GOBP_NEGATIVE_REGULATION_OF_PLATELET_ACTIVATION, GOBP_ADULT_BEHAVIOR, GOBP_PLATELET_ACTIVATION, GOBP_INSULIN_SECRETION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP
GO Biological Process (8): positive regulation of cytosolic calcium ion concentration (GO:0007204), negative regulation of platelet activation (GO:0010544), positive regulation of gene expression (GO:0010628), regulation of glucose metabolic process (GO:0010906), positive regulation of MAPK cascade (GO:0043410), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), negative regulation of platelet aggregation (GO:0090331), positive regulation of aldosterone secretion (GO:2000860)
GO Molecular Function (3): collagen binding (GO:0005518), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (4): collagen trimer (GO:0005581), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of intracellular signal transduction | 2 |
| regulation of biological quality | 1 |
| regulation of platelet activation | 1 |
| platelet activation | 1 |
| negative regulation of blood coagulation | 1 |
| negative regulation of cell activation | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| glucose metabolic process | 1 |
| regulation of carbohydrate metabolic process | 1 |
| regulation of small molecule metabolic process | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| negative regulation of platelet activation | 1 |
| negative regulation of homotypic cell-cell adhesion | 1 |
| platelet aggregation | 1 |
| regulation of platelet aggregation | 1 |
| aldosterone secretion | 1 |
| positive regulation of mineralocorticoid secretion | 1 |
| regulation of aldosterone secretion | 1 |
| protein-containing complex binding | 1 |
| protein binding | 1 |
| binding | 1 |
| protein-containing complex | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
308 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| C1QTNF1 | AVPR2 | P30518 | 766 |
| C1QTNF1 | ERFE | Q4G0M1 | 624 |
| C1QTNF1 | C1QTNF12 | Q5T7M4 | 541 |
| C1QTNF1 | TNF | P01375 | 528 |
| C1QTNF1 | C1QL1 | O75973 | 490 |
| C1QTNF1 | C1QTNF6 | Q9BXI9 | 475 |
| C1QTNF1 | C1QL3 | Q5VWW1 | 466 |
| C1QTNF1 | C1QL4 | Q86Z23 | 458 |
| C1QTNF1 | C1QL2 | Q7Z5L3 | 455 |
| C1QTNF1 | SCRIB | Q14160 | 437 |
| C1QTNF1 | ARHGEF7 | Q14155 | 429 |
| C1QTNF1 | ADIPOR1 | Q96A54 | 322 |
| C1QTNF1 | PINLYP | A6NC86 | 308 |
| C1QTNF1 | GIT1 | Q9Y2X7 | 305 |
| C1QTNF1 | NUTM2F | A1L443 | 290 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C1QTNF1 | SGTA | psi-mi:“MI:0915”(physical association) | 0.670 |
| SGTA | C1QTNF1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PRPF31 | C1QTNF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LNX1 | C1QTNF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C1QTNF1 | PRPF31 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C1QTNF1 | LNX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CACNA1A | C1QTNF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| C1QTNF1 | ECE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | C1QTNF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| C1QTNF1 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF75A | TPP2 | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF1 | CALU | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF1 | UBQLN4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UBQLN4 | C1QTNF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (53): C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Two-hybrid), C14orf119 (Two-hybrid), UBL5 (Two-hybrid), C1QTNF1 (Two-hybrid), C1QTNF1 (Reconstituted Complex)
ESM2 similar proteins: A1A5X5, A4IH36, D4AB34, O93449, O95150, O97605, O97626, P04088, P04924, P09529, P10600, P15203, P16047, P17125, P17491, P27093, P36939, P36940, P41047, P42917, P48023, P50591, P50592, P59694, P59695, P63306, P63307, P63308, Q04999, Q07258, Q5UBV8, Q5XIG2, Q6PGN1, Q80WL1, Q861W5, Q8BGU2, Q8BMF8, Q8IUK8, Q8K3Y7, Q8R2Z0
Diamond homologs: A0A060WQA3, A5PN28, A6NHN0, O75973, O88992, P02745, P02746, P02747, P14106, P25067, P25318, P31720, P31721, P31722, P83371, P98085, P98086, Q02105, Q05A80, Q2KIV9, Q2KIX7, Q3Y5Z3, Q4ZJM7, Q4ZJM9, Q5E9E3, Q5FVH0, Q5RJ80, Q5VWW1, Q60994, Q69DL0, Q6IMN6, Q7Z5L3, Q86Z23, Q8BVD7, Q8CFR0, Q8K479, Q8R066, Q9BXJ0, Q9BXJ1, Q9BXJ2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1896 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:48960881:CCTA:C | donor_loss | 1.0000 |
| 17:48960882:CTA:C | donor_loss | 1.0000 |
| 17:48960883:TAC:T | donor_loss | 1.0000 |
| 17:48960884:ACC:A | donor_loss | 1.0000 |
| 17:48960885:CCT:C | donor_loss | 1.0000 |
| 17:48961722:CTCA:C | donor_loss | 1.0000 |
| 17:48961723:TCACC:T | donor_loss | 1.0000 |
| 17:48961724:CAC:C | donor_loss | 1.0000 |
| 17:48961725:A:AC | donor_gain | 1.0000 |
| 17:48961725:A:C | donor_loss | 1.0000 |
| 17:48961726:C:CC | donor_gain | 1.0000 |
| 17:48961726:CCT:C | donor_gain | 1.0000 |
| 17:48961816:CCAG:C | acceptor_gain | 1.0000 |
| 17:48961817:CAGC:C | acceptor_gain | 1.0000 |
| 17:48961819:GC:G | acceptor_loss | 1.0000 |
| 17:48961820:C:CC | acceptor_gain | 1.0000 |
| 17:48964308:A:AC | donor_gain | 1.0000 |
| 17:48964308:ACT:A | donor_gain | 1.0000 |
| 17:48964309:C:CA | donor_gain | 1.0000 |
| 17:48964309:CT:C | donor_gain | 1.0000 |
| 17:48964309:CTC:C | donor_gain | 1.0000 |
| 17:48967145:A:C | donor_loss | 1.0000 |
| 17:48967146:C:CA | donor_loss | 1.0000 |
| 17:48967254:C:CC | acceptor_gain | 1.0000 |
| 17:48958726:G:C | acceptor_gain | 0.9900 |
| 17:48958726:G:GC | acceptor_gain | 0.9900 |
| 17:48960880:CCCTA:C | donor_loss | 0.9900 |
| 17:48960983:GGGAG:G | acceptor_gain | 0.9900 |
| 17:48960984:GGAG:G | acceptor_gain | 0.9900 |
| 17:48960985:GAG:G | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000052875 (17:79029233 C>T), RS1000147926 (17:79034630 T>A), RS1000263656 (17:79033762 C>G), RS1000310947 (17:79040173 T>C), RS1000356766 (17:79049130 C>A), RS1000441905 (17:79043712 T>C), RS1000507572 (17:79032514 TG>T), RS1000518387 (17:79028027 C>T), RS1000600914 (17:79032313 G>A), RS1000794359 (17:79030606 T>C), RS1000834538 (17:79044303 G>T), RS1001055639 (17:79030388 C>T), RS1001057895 (17:79037861 G>A), RS1001084750 (17:79025501 A>G), RS1001185582 (17:79024598 G>A)
Disease associations
OMIM: gene MIM:610365 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000998_5 | Coronary heart disease | 2.000000e-08 |
| GCST004773_13 | Type 2 diabetes | 4.000000e-08 |
| GCST005194_178 | Coronary artery disease | 6.000000e-09 |
| GCST005196_219 | Coronary artery disease | 1.000000e-09 |
| GCST005414_22 | Type 2 diabetes | 3.000000e-08 |
| GCST007267_47 | Systolic blood pressure | 5.000000e-14 |
| GCST007329_29 | Automobile speeding propensity | 3.000000e-08 |
| GCST009523_61 | Household income | 2.000000e-08 |
| GCST010661_10 | Blood glucose levels | 7.000000e-06 |
| GCST010662_16 | Systolic blood pressure | 2.000000e-07 |
| GCST011320_33 | Type 2 diabetes or prostate cancer (pleiotropy) | 3.000000e-09 |
| GCST012226_797 | Waist circumference adjusted for body mass index | 1.000000e-08 |
| GCST012227_342 | Hip circumference adjusted for BMI | 3.000000e-10 |
| GCST90000025_597 | Appendicular lean mass | 9.000000e-15 |
| GCST90002384_418 | Hemoglobin | 7.000000e-09 |
| GCST90013406_159 | Liver enzyme levels (alkaline phosphatase) | 4.000000e-17 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0008579 | risk-taking behaviour |
| EFO:0009695 | household income |
| EFO:0004468 | glucose measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004980 | appendicular lean mass |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004533 | alkaline phosphatase 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 |
|---|---|---|
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| aminomethylphosphonic acid (AMPA) | increases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| cupric chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, affects cotreatment, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| bisphenol AF | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Glyphosate | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.