C1QTNF3

Summary

C1QTNF3 (C1q and TNF related 3, HGNC:14326) is a protein-coding gene on chromosome 5p13.2, encoding Complement C1q tumor necrosis factor-related protein 3 (Q9BXJ4).

Enables identical protein binding activity. Involved in several processes, including intracellular triglyceride homeostasis; negative regulation of non-canonical NF-kappaB signal transduction; and regulation of cytokine production. Acts upstream of or within negative regulation of gluconeogenesis. Located in extracellular exosome and membrane.

Source: NCBI Gene 114899 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_181435

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14326
Approved symbol	C1QTNF3
Name	C1q and TNF related 3
Location	5p13.2
Locus type	gene with protein product
Status	Approved
Aliases	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26
Ensembl gene	ENSG00000082196
Ensembl biotype	protein_coding
OMIM	612045
Entrez	114899

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000231338, ENST00000382065, ENST00000508398, ENST00000508434, ENST00000513065, ENST00000513471, ENST00000905466

RefSeq mRNA: 2 — MANE Select: NM_181435 NM_030945, NM_181435

CCDS: CCDS34141, CCDS3904

Canonical transcript exons

ENST00000382065 — 6 exons

Exon	Start	End
ENSE00002027770	34017858	34020742
ENSE00002032960	34042823	34043213
ENSE00003702927	34035647	34035758
ENSE00003704735	34033304	34033458
ENSE00003707616	34023909	34024008
ENSE00003710800	34028754	34028883

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 99.75.

FANTOM5 (CAGE): breadth broad, TPM avg 1.9519 / max 606.1806, expressed in 283 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61236	1.7294	271
61237	0.2157	81
61235	0.0069	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	99.75	gold quality
calcaneal tendon	UBERON:0003701	97.67	gold quality
cartilage tissue	UBERON:0002418	94.67	gold quality
tendon	UBERON:0000043	92.81	gold quality
vena cava	UBERON:0004087	92.52	gold quality
cardia of stomach	UBERON:0001162	89.06	gold quality
right testis	UBERON:0004534	88.84	gold quality
left testis	UBERON:0004533	88.66	gold quality
skin of hip	UBERON:0001554	88.21	gold quality
synovial joint	UBERON:0002217	88.03	gold quality
colonic epithelium	UBERON:0000397	87.19	gold quality
tibia	UBERON:0000979	86.80	gold quality
superficial temporal artery	UBERON:0001614	86.48	silver quality
rectum	UBERON:0001052	86.41	gold quality
testis	UBERON:0000473	86.12	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.03	gold quality
inferior olivary complex	UBERON:0002127	85.89	silver quality
putamen	UBERON:0001874	85.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.74	gold quality
layer of synovial tissue	UBERON:0007616	85.70	gold quality
fundus of stomach	UBERON:0001160	85.67	gold quality
spinal cord	UBERON:0002240	85.57	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.27	gold quality
right uterine tube	UBERON:0001302	85.20	gold quality
caudate nucleus	UBERON:0001873	85.20	gold quality
cerebellar cortex	UBERON:0002129	85.05	gold quality
cerebellar hemisphere	UBERON:0002245	84.91	gold quality
cerebellum	UBERON:0002037	84.89	gold quality
sperm	CL:0000019	84.88	silver quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	84.47	silver quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ENAD-20	yes	4360.86
E-MTAB-9906	yes	1626.83
E-ANND-5	yes	553.19
E-ANND-3	yes	9.33

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
PCK1	Repression

Upstream regulators (CollecTRI, top): AP1, CEBPB, JUN, POU1F1, PPARG, SP1

miRNA regulators (miRDB)

137 targeting C1QTNF3, 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-5011-5P	100.00	83.46	5820
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 40)

• Blood level is determined by a glucose tolerance test in normal adults (PMID:17311679)
• CTRP3/cartducin may be involved as a novel angiogenic factor in the formation of neointima following angioplasty. (PMID:17534697)
• CORS26/cartonectin is a new adipokine that differentially regulates the secretion of classical adipokines, with marked differences between the human and the murine systems. (PMID:18421280)
• Genotyping of the shared variants in a Puerto Rican sample of 118 cases and 136 controls did not reveal either allelic or genotype association with schizophrenia. (PMID:20483475)
• CTRP-3 inhibits three basic and common proinflammatory pathways involved in obesity and type 2 diabetes mellitus (adipo-inflammation) by acting as an endogenous LPS antagonist of the adipose tissue. (PMID:20739398)
• This study provides the first functional evidence linking CTRP3 to hepatic glucose metabolism and establishes CTRP3 as a novel adipokine. (PMID:20952387)
• Data suggest that patients exhibit significantly elevated circulating CTRP-3 in type 2 diabetes or prediabetes compared with subjects with normal glucose tolerance. Plasma CTRP-3 might be useful biomarker for atherosclerosis. (PMID:22837306)
• Data suggest that CTRP3 is expressed in subcutaneous and visceral adipocytes; CTRP3 appears to play important roles in adipocyte (epinephrine-induced) lipolysis, inflammation/infection, and adipokine/resistin secretion. (PMID:23174996)
• Data suggest that serum/omental adipose tissue (AT) cartonectin levels are lower in women with polycystic ovary syndrome; treatment with a hypoglycemic agent (metformin) increases serum cartonectin levels in these women and in omental AT explants. (PMID:24152681)
• Patients with acute coronary syndrome or stable angina pectoris had significantly lower circulating CTRP-3 concentrations compared to controls. (PMID:24417980)
• CTRP3 promotes vascular calcification by enhancing phosphate-induced osteogenic transition of VSMC through reactive oxygen species-extracellular signal-regulated kinase 1/2-Runx2 pathway. (PMID:24578384)
• CTRP3 could improve insulin sensitivity of insulin resistant 3T3-L1 adipocytes by decreasing inflammation and ameliorating insulin signalling transduction, indicating that CTRP3 may be a new target for the prevention and cure of insulin resistance and type 2 diabetes. (PMID:25185846)
• Results show that cartonectin may serve as a novel biomarker for the prediction and early diagnosis of type 2 diabetes mellitus patients. (PMID:25409499)
• plasma CTRP-3 is strongly associated with glucose and lipid metabolism, chronic inflammation, and insulin resistance. (PMID:26073386)
• Lower Circulating C1q/TNF-Related Protein-3 (CTRP3) Levels Are Associated with Obesity (PMID:26222183)
• CTRP3 is present in cord blood and might be involved in fetal growth (PMID:26656444)
• CTRP3 overexpression altered chemokine levels and attenuated systemic inflammation in the setting of obesity. (PMID:26997632)
• defensive roles in suppressing inflammation and fibrosis in polymeric IgA complex-stimulated mesangial cells; may target the NF-kappaB and TGF-beta/Src-Smad3 signaling pathways to play multipotent roles in relieving the pathological progression of IgA nephropathy (PMID:27309491)
• both plasma CTRP-3 and HMGB-1 levels were significantly associated with pre-diabetes mellitus and newly diagnosed type 2 diabetes after adjusting for several confounders (PMID:27738641)
• CTRP3 promotes mitochondrial biogenesis in cardiomyocytes via AMPK/PGC-1alpha pathway. (PMID:27793739)
• This research suggested that CTRP3 might protect chondrocytes against IL-1beta-induced osteoarthritis in a cell model by suppressing the FGFR1- Ras/PI3K/Akt signaling-mediated growth inhibitory pathway. (PMID:27930985)
• decreased levels of CTRP3 and especially CTRP13 were associated with increased risk of T2DM and CAD (PMID:28033351)
• CTRP3 may be a promising therapeutic target for the treatment of liver fibrosis. (PMID:28320106)
• Low CTRP3 expression is associated with diabetic retinopathy. (PMID:28632765)
• Elevated serum CTRP 3 levels were closely related to the prevalence and severity of coronary artery disease, suggesting that it might be regarded as a novel biomarker for CAD. (PMID:28754090)
• Exercise training-induced increase in serum CTRP3/5 levels may be associated with the reduction of arterial stiffness in middle-aged and older adults. (PMID:29070503)
• low serum CTRP3 is a strong predictor for the prevalence of Nonalcoholic fatty liver disease in Chinese patients with newly diagnosed type 2 diabetes mellitus. (PMID:29113741)
• With the increase of FPG, the progression of GDM IR (gestational diabetes mellitus insulin resistance) patients is increased, and pancreatic beta-cell function progressively declines. The decrease of CTRP3 level in fasting serum in GDM patients plays a metabolic role in the pathogenesis of GDM (PMID:29272006)
• down-regulated in semen of obese sub-fertile patients (PMID:29572383)
• we have developed a diagnostic and prognostic prediction model for Prostate cancer. C1QTNF3 was revealed as a promising biomarker for Prostate cancer (PMID:29861410)
• 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)
• Low CTRP3 expression is associated with diabetes mellitus. (PMID:30641739)
• Study found that the cartonectin levels increased as glomerular filtration rate decreased and were significantly higher in chronic kidney disease patients on hemodialysis. (PMID:30732504)
• Serum levels of C1q TNF related protein 3 (CTRP3) were significantly lower in patients with type 2 diabetes mellitus (T2DM) and T2DM-diabetic nephropathy (NP) compared to controls. (PMID:31009504)
• CTRP3 could improve renal fibrosis, to some extent, through inhibiting the Notch pathway. (PMID:31074042)
• 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)
• CTRP3 treatment blocked the accumulation of inflammatory factors and cell loss in Human Umbilical Vein Endothelial Cells after high glucose exposure. (PMID:31428552)
• CTRP3 attenuated HG-stimulated oxidative stress and apoptosis in ARPE-19 cells (PMID:31556307)
• Serum levels of C1q/TNF-related protein-3 in inflammatory bowel disease patients and its inverse association with inflammatory cytokines and insulin resistance. (PMID:32311832)
• CTRP3 Activates the AMPK/SIRT1-PGC-1alpha Pathway to Protect Mitochondrial Biogenesis and Functions in Cerebral Ischemic Stroke. (PMID:33098065)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	C1qtnf3	ENSMUSG00000058914
rattus_norvegicus	C1qtnf3	ENSRNOG00000018570

Paralogs (23): 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), C1QTNF9 (ENSG00000240654)

Protein

Protein identifiers

Complement C1q tumor necrosis factor-related protein 3 — Q9BXJ4 (reviewed: Q9BXJ4)

Alternative names: Collagenous repeat-containing sequence 26 kDa protein, Secretory protein CORS26

All UniProt accessions (1): Q9BXJ4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Expressed in colon and small intestine.

Post-translational modifications. Glycosylated on Asn-70.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BXJ4-1	1	yes
Q9BXJ4-2	2
Q9BXJ4-3	3

RefSeq proteins (2): NP_112207, NP_852100* (*=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): splice variant 3, compositionally biased region 3, domain 2, signal peptide 1, chain 1, glycosylation site 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXJ4-F1	79.28	0.56

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): 70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 184 (showing top): GOBP_ACYLGLYCEROL_HOMEOSTASIS, WWTAAGGC_UNKNOWN, TSENG_IRS1_TARGETS_UP, WHITEHURST_PACLITAXEL_SENSITIVITY, GOBP_INFLAMMATORY_RESPONSE, GOCC_COLLAGEN_TRIMER, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_HORMONE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, FOXO4_01, FOXO1_01

GO Biological Process (12): positive regulation of cytokine production (GO:0001819), negative regulation of gene expression (GO:0010629), negative regulation of interleukin-6 production (GO:0032715), intracellular triglyceride homeostasis (GO:0035356), fat cell differentiation (GO:0045444), negative regulation of gluconeogenesis (GO:0045721), negative regulation of inflammatory response (GO:0050728), positive regulation of adiponectin secretion (GO:0070165), negative regulation of monocyte chemotactic protein-1 production (GO:0071638), negative regulation of non-canonical NF-kappaB signal transduction (GO:1901223), chemical homeostasis (GO:0048878), regulation of intracellular signal transduction (GO:1902531)

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

GO Cellular Component (4): collagen trimer (GO:0005581), membrane (GO:0016020), extracellular exosome (GO:0070062), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of multicellular organismal process	2
cellular anatomical structure	2
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	1
negative regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
intracellular chemical homeostasis	1
triglyceride homeostasis	1
cell differentiation	1
gluconeogenesis	1
regulation of gluconeogenesis	1
negative regulation of biosynthetic process	1
negative regulation of carbohydrate metabolic process	1
negative regulation of small molecule metabolic process	1
inflammatory response	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
regulation of inflammatory response	1
positive regulation of hormone secretion	1
positive regulation of protein secretion	1
adiponectin secretion	1
regulation of adiponectin secretion	1
negative regulation of chemokine production	1
monocyte chemotactic protein-1 production	1
regulation of monocyte chemotactic protein-1 production	1
non-canonical NF-kappaB signal transduction	1
regulation of non-canonical NF-kappaB signal transduction	1
negative regulation of intracellular signal transduction	1
homeostatic process	1
regulation of signal transduction	1
intracellular signal transduction	1
protein binding	1
binding	1
protein-containing complex	1
extracellular vesicle	1

Protein interactions and networks

STRING

896 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1QTNF3	HSPB3	Q12988	656
C1QTNF3	LEP	P41159	635
C1QTNF3	C1QTNF12	Q5T7M4	603
C1QTNF3	INS	P01308	545
C1QTNF3	ERFE	Q4G0M1	478
C1QTNF3	AKT1	P31749	475
C1QTNF3	LY96	Q9Y6Y9	468
C1QTNF3	SCARB2	Q14108	467
C1QTNF3	LAMP1	P11279	442
C1QTNF3	TNF	P01375	433
C1QTNF3	RETN	Q9HD89	397
C1QTNF3	RETNLB	Q9BQ08	393
C1QTNF3	C1QL3	Q5VWW1	392
C1QTNF3	PANX3	Q96QZ0	382
C1QTNF3	ITLN1	Q8WWA0	358

IntAct

10 interactions, top by confidence:

A	B	Type	Score
TRADD	TNF	psi-mi:“MI:0914”(association)	0.790
C1QTNF3	COLGALT2	psi-mi:“MI:0915”(physical association)	0.590
HTT	C1QTNF3	psi-mi:“MI:0915”(physical association)	0.560
C1QTNF3	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.370
C1QTNF3	PLOD2	psi-mi:“MI:0914”(association)	0.350
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (11): COLGALT2 (Affinity Capture-MS), C1QTNF3 (Two-hybrid), COLGALT2 (Affinity Capture-MS), C1QTNF3 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), COL12A1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), PLOD2 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), CTHRC1 (Affinity Capture-MS), KLHL9 (Affinity Capture-MS)

ESM2 similar proteins: A0A060WQA3, A5PN28, A6NHN0, B2RNN3, P02745, P02746, P02747, P08125, P0C862, P12106, P14106, P20849, P23206, P23805, P31720, P31721, P31722, P35246, P35247, P35248, P42916, P50404, P83371, P98085, P98086, Q02105, Q05306, Q05722, Q0II24, Q0VF58, Q14993, Q15848, Q1PBC5, Q2KIV9, Q3Y5Z3, Q4ZJM7, Q4ZJN1, Q5E9E3, Q60994, Q641F3

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1134 predictions. Top by Δscore:

Variant	Effect	Δscore
5:34020585:A:AC	donor_gain	1.0000
5:34020586:C:CC	donor_gain	1.0000
5:34020589:A:AC	donor_gain	1.0000
5:34020589:AGTTT:A	donor_gain	1.0000
5:34020590:G:C	donor_gain	1.0000
5:34020607:T:TA	donor_gain	1.0000
5:34020738:CATAG:C	acceptor_gain	1.0000
5:34028884:C:CC	acceptor_gain	1.0000
5:34035641:CCTTA:C	donor_loss	1.0000
5:34035642:CTTA:C	donor_loss	1.0000
5:34035643:TTACC:T	donor_loss	1.0000
5:34035644:TA:T	donor_loss	1.0000
5:34035645:A:AC	donor_gain	1.0000
5:34035645:A:T	donor_loss	1.0000
5:34035645:ACCTG:A	donor_loss	1.0000
5:34035646:C:CC	donor_gain	1.0000
5:34035754:GGAGA:G	acceptor_gain	1.0000
5:34035755:GAGA:G	acceptor_gain	1.0000
5:34035756:AGA:A	acceptor_gain	1.0000
5:34035756:AGAC:A	acceptor_loss	1.0000
5:34035757:GA:G	acceptor_gain	1.0000
5:34035757:GAC:G	acceptor_loss	1.0000
5:34035758:AC:A	acceptor_loss	1.0000
5:34035758:ACTA:A	acceptor_loss	1.0000
5:34035759:C:CC	acceptor_gain	1.0000
5:34035760:T:C	acceptor_loss	1.0000
5:34020740:TAG:T	acceptor_gain	0.9900
5:34020741:AG:A	acceptor_gain	0.9900
5:34020743:C:CA	acceptor_loss	0.9900
5:34020743:C:CC	acceptor_gain	0.9900

AlphaMissense

2121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:34020608:C:T	G239E	1.000
5:34020609:C:G	G239R	1.000
5:34020609:C:T	G239R	1.000
5:34020665:A:G	L220P	1.000
5:34020671:A:T	V218D	1.000
5:34020689:A:G	L212P	1.000
5:34020695:A:G	L210P	1.000
5:34023945:A:G	L182P	1.000
5:34023996:A:G	F165S	1.000
5:34024003:A:C	Y163D	1.000
5:34028771:A:G	F155S	1.000
5:34028777:C:A	G153V	1.000
5:34028777:C:T	G153D	1.000
5:34028825:A:G	F137S	1.000
5:34028875:G:C	F120L	1.000
5:34028875:G:T	F120L	1.000
5:34028876:A:G	F120S	1.000
5:34028877:A:G	F120L	1.000
5:34033440:C:T	G72D	1.000
5:34033449:C:T	G69E	1.000
5:34020602:A:G	L241P	0.999
5:34020604:G:C	F240L	0.999
5:34020604:G:T	F240L	0.999
5:34020606:A:G	F240L	0.999
5:34020612:C:G	A238P	0.999
5:34020613:A:C	F237L	0.999
5:34020613:A:T	F237L	0.999
5:34020614:A:G	F237S	0.999
5:34020615:A:G	F237L	0.999
5:34020626:C:G	R233P	0.999

dbSNP variants (sampled 300 via entrez): RS1000029995 (5:34218203 T>C), RS1000060557 (5:34057898 C>T), RS1000069617 (5:34048479 A>G), RS1000088353 (5:34218030 C>T), RS1000121949 (5:34157252 C>T), RS1000126566 (5:34107928 A>G), RS1000136962 (5:34059349 C>A), RS1000181761 (5:34163594 T>C), RS1000202782 (5:34158757 C>T), RS1000206472 (5:34040331 G>A,C), RS1000210132 (5:34121958 T>C), RS1000219265 (5:34230457 T>C), RS1000234264 (5:34163761 C>T), RS1000289076 (5:34115353 C>A), RS1000295560 (5:34224032 G>A)

Disease associations

OMIM: gene MIM:612045 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST006585_2446	Blood protein levels	3.000000e-08
GCST007344_21	Estimated glomerular filtration rate	7.000000e-11
GCST90020025_480	Waist-to-hip ratio adjusted for BMI	4.000000e-08
GCST90020027_1960	Waist-hip index	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Nickel	decreases expression	2
beauvericin	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
pentanal	decreases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
incobotulinumtoxinA	increases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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