C1QTNF8

gene
On this page

Also known as UNQ5829CTRP8

Summary

C1QTNF8 (C1q and TNF related 8, HGNC:31374) is a protein-coding gene on chromosome 16p13.3, encoding Complement C1q tumor necrosis factor-related protein 8 (P60827). May play a role as ligand of RXFP1.

Involved in positive regulation of cell motility. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular space.

Source: NCBI Gene 390664 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 77 total
  • MANE Select transcript: NM_207419

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:31374
Approved symbolC1QTNF8
NameC1q and TNF related 8
Location16p13.3
Locus typegene with protein product
StatusApproved
AliasesUNQ5829, CTRP8
Ensembl geneENSG00000184471
Ensembl biotypeprotein_coding
OMIM614147
Entrez390664

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000328449, ENST00000711611, ENST00000885540

RefSeq mRNA: 1 — MANE Select: NM_207419 NM_207419

CCDS: CCDS32358

Canonical transcript exons

ENST00000328449 — 5 exons

ExonStartEnd
ENSE0000129211210934971094051
ENSE0000138755410947151094933
ENSE0000152916510956151095788
ENSE0000152916610961561096244
ENSE0000230966310882261090594

Expression profiles

Bgee: expression breadth broad, 51 present calls, max score 71.75.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right uterine tubeUBERON:000130271.75gold quality
ascending aortaUBERON:000149668.78gold quality
thoracic aortaUBERON:000151568.60gold quality
descending thoracic aortaUBERON:000234567.59gold quality
pituitary glandUBERON:000000763.77gold quality
adenohypophysisUBERON:000219659.94gold quality
olfactory segment of nasal mucosaUBERON:000538659.88gold quality
left uterine tubeUBERON:000130353.80gold quality
hypothalamusUBERON:000189853.43gold quality
fallopian tubeUBERON:000388953.30gold quality
left coronary arteryUBERON:000162652.81gold quality
right coronary arteryUBERON:000162552.29gold quality
popliteal arteryUBERON:000225052.21gold quality
tibial arteryUBERON:000761052.20gold quality
caudate nucleusUBERON:000187350.76gold quality
substantia nigraUBERON:000203849.11gold quality
left adrenal gland cortexUBERON:003582547.37gold quality
C1 segment of cervical spinal cordUBERON:000646947.32gold quality
right adrenal gland cortexUBERON:003582746.35gold quality
temporal lobeUBERON:000187146.30gold quality
amygdalaUBERON:000187646.24gold quality
right adrenal glandUBERON:000123345.81gold quality
left adrenal glandUBERON:000123445.76gold quality
Ammon’s hornUBERON:000195444.86gold quality
adrenal glandUBERON:000236943.44gold quality
putamenUBERON:000187443.12gold quality
brainUBERON:000095542.54gold quality
hindlimb stylopod muscleUBERON:000425242.30gold quality
nucleus accumbensUBERON:000188242.04gold quality
colonic epitheliumUBERON:000039741.46gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no0.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting C1QTNF8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-433-3P99.9869.371203
HSA-MIR-3151-5P99.8663.831069
HSA-MIR-444799.8567.812900
HSA-MIR-6842-5P99.8067.541587
HSA-MIR-7110-5P99.8067.841712
HSA-MIR-6764-5P99.7567.892304
HSA-MIR-6752-5P99.5967.321243
HSA-MIR-1915-3P99.5866.791988
HSA-MIR-4649-3P99.5666.901783
HSA-MIR-6751-5P99.5664.991145
HSA-MIR-1212299.5669.331672
HSA-MIR-671-5P99.5267.111277
HSA-MIR-612899.3367.831581
HSA-MIR-3614-5P99.3065.25837
HSA-MIR-6837-5P99.2565.471632
HSA-MIR-4685-5P99.2565.991563
HSA-MIR-6803-5P99.1963.901026
HSA-MIR-6852-5P99.1766.692073
HSA-MIR-429299.1665.571767
HSA-MIR-6791-5P99.1665.921844
HSA-MIR-465199.0667.572002
HSA-MIR-60898.9367.832013
HSA-MIR-2355-5P98.8365.511589
HSA-MIR-76098.8166.651392
HSA-MIR-7113-3P98.7565.711120
HSA-MIR-6840-3P98.6865.951923
HSA-MIR-6852-3P98.5467.601468
HSA-MIR-7156-3P98.2567.66859

Literature-anchored findings (GeneRIF, showing 4)

  • two novel human C1q/TNF family members, designated as CTRP8 and CTRP9B were described. (PMID:19666007)
  • direct interaction of human CTRP8 with RXFP1 (PMID:24014093)
  • This study demonstrates a novel role for CTRP8 in protecting human glioblastoma cells against the DNA alkylating damage of temozolomide, the standard chemotherapy drug used to treat glioblastoma. This DNA protective role of CTRP8 required a functional RXFP1-STAT3 signaling cascade in glioblastoma cells. CTRP8-RXFP1-STAT3 axis is an emerging new drug target for improved treatment of human glioblastoma. (PMID:29949238)
  • Human C1q Tumor Necrosis Factor 8 (CTRP8) defines a novel tryptase+ mast cell subpopulation in the prostate cancer microenvironment. (PMID:36921737)

Cross-species orthologs

0 orthologs

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), C1QL4 (ENSG00000186897), C1QTNF9B (ENSG00000205863), C1QTNF5 (ENSG00000223953), C1QTNF9 (ENSG00000240654)

Protein

Protein identifiers

Complement C1q tumor necrosis factor-related protein 8P60827 (reviewed: P60827)

Alternative names: C1q/TNF-related protein 8

All UniProt accessions (2): P60827, A0A3B0IWW5

UniProt curated annotations — full annotation on UniProt →

Function. May play a role as ligand of RXFP1.

Subunit / interactions. Homotrimer. Forms heteromeric complexes with C1QL1. Interacts with RXFP1.

Subcellular location. Secreted.

Tissue specificity. Expressed predominantly in lung and testis. Expressed in astrocytes.

Post-translational modifications. Not N-glycosylated.

RefSeq proteins (1): NP_997302* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001073C1q_domDomain
IPR008160CollagenRepeat
IPR008983Tumour_necrosis_fac-like_domHomologous_superfamily
IPR050822Cerebellin_Synaptic_OrgFamily

Pfam: PF00386, PF01391

UniProt features (5 total): domain 2, signal peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P60827-F178.890.55

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 27 (showing top): GOCC_COLLAGEN_TRIMER, TGANTCA_AP1_C, NFE2_01, AP1FJ_Q2, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, AP1_Q6_01, MARTENS_TRETINOIN_RESPONSE_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, ZNF436_TARGET_GENES, ZNF92_TARGET_GENES, MIR4264, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, GOBP_LOCOMOTION, GOBP_POSITIVE_REGULATION_OF_LOCOMOTION

GO Biological Process (1): positive regulation of cell motility (GO:2000147)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): collagen trimer (GO:0005581), obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
positive regulation of locomotion1
positive regulation of cellular process1
cell motility1
regulation of cell motility1
binding1
protein-containing complex1
cellular anatomical structure1

Protein interactions and networks

STRING

244 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
C1QTNF8RXFP1Q9HBX9855
C1QTNF8RLN2P04090544
C1QTNF8OR4E2Q8NGC2507
C1QTNF8OR10Z1Q8NGY1506
C1QTNF8C1QL1O75973492
C1QTNF8C1QL2Q7Z5L3491
C1QTNF8C1QL4Q86Z23478
C1QTNF8C1QL3Q5VWW1465
C1QTNF8DUSP28Q4G0W2451
C1QTNF8KRTAP12-3P60328447
C1QTNF8OR5C1Q8NGR4447
C1QTNF8OR6K6Q8NGW6447
C1QTNF8OR51I2Q9H344447
C1QTNF8MYCBPAPQ8TBZ2445
C1QTNF8OR1I1O60431437
C1QTNF8OR51I1Q9H343437

IntAct

4 interactions, top by confidence:

ABTypeScore
C1QL1C1QTNF8psi-mi:“MI:0915”(physical association)0.400
C1QTNF8VWA8psi-mi:“MI:0914”(association)0.350

BioGRID (17): C1QTNF8 (Affinity Capture-Western), C1QTNF8 (Affinity Capture-RNA), PLOD3 (Affinity Capture-MS), COLGALT2 (Affinity Capture-MS), SIRT3 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), SATB2 (Affinity Capture-MS), C10orf2 (Affinity Capture-MS), OTUD4 (Affinity Capture-MS), LEPREL2 (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), AGGF1 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), APOD (Affinity Capture-MS), MANBA (Affinity Capture-MS)

ESM2 similar proteins: A2A9Q0, A5A8Y8, A5PKD8, F1SAM7, O00468, O60500, O75325, P0C7J6, P12843, P13384, P18065, P24853, P49705, P50895, P60827, P60882, Q16270, Q24JP5, Q29400, Q2WF71, Q50LG9, Q5W7P8, Q61581, Q641Q3, Q6IQX7, Q6UKI2, Q6UWL6, Q75ZP3, Q7TSU7, Q7Z7M0, Q80W15, Q8BHA1, Q8BJ66, Q8IZ52, Q8N2S1, Q8NDA2, Q8WX77, Q91ZV8, Q96I82, Q96MS0

Diamond homologs: A1L251, F4JZC2, P0C7A1, P60827, Q3T1I2, Q5XIG2, Q6IR41, Q8BX80, Q8NFI3, Q9BXI9, Q9BXJ1, Q9QXP7, Q9SRL4, P98087, Q03692, Q05306, Q8BGU2, Q8IUK8, Q8R066, Q9BXJ0, Q9BXJ3, O75973, O88992, P23435, P63182, P86437, Q05A80, Q0II24, Q17QF9, Q4ZJM9, Q4ZJN1, Q5RJ80, Q5VWW1, Q6IMN6, Q6UW01, Q7Z5L3, Q86Z23, Q8BME9, Q8BVD7, Q8CFR0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance74
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

595 predictions. Top by Δscore:

VariantEffectΔscore
16:1094929:CAGGG:Cacceptor_gain1.0000
16:1094930:AGGG:Aacceptor_gain1.0000
16:1094931:GGG:Gacceptor_gain1.0000
16:1094932:GG:Gacceptor_gain1.0000
16:1094933:GCTG:Gacceptor_loss1.0000
16:1094934:C:CCacceptor_gain1.0000
16:1094934:C:Tacceptor_loss1.0000
16:1096126:T:TAdonor_gain1.0000
16:1093521:TG:Tdonor_gain0.9900
16:1094049:CAC:Cacceptor_gain0.9900
16:1094053:T:Aacceptor_loss0.9900
16:1094798:AC:Adonor_gain0.9900
16:1094799:CC:Cdonor_gain0.9900
16:1096134:CCGT:Cdonor_gain0.9900
16:1096150:C:CAdonor_gain0.9900
16:1094047:CTCAC:Cacceptor_gain0.9800
16:1094052:C:CCacceptor_gain0.9800
16:1094791:GTCAC:Gdonor_loss0.9800
16:1094792:TCACT:Tdonor_loss0.9800
16:1094793:CACT:Cdonor_loss0.9800
16:1094794:ACTCA:Adonor_loss0.9800
16:1094795:CTCAC:Cdonor_loss0.9800
16:1094796:T:TCdonor_loss0.9800
16:1094797:C:CCdonor_loss0.9800
16:1094798:A:ACdonor_gain0.9800
16:1094798:A:ATdonor_loss0.9800
16:1094799:C:CCdonor_gain0.9800
16:1095622:C:Adonor_gain0.9800
16:1096154:G:Adonor_gain0.9800
16:1094048:TCAC:Tacceptor_gain0.9700

AlphaMissense

1606 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:1093903:G:CF119L0.991
16:1093903:G:TF119L0.991
16:1093905:A:GF119L0.991
16:1093846:G:CF138L0.989
16:1093846:G:TF138L0.989
16:1093848:A:GF138L0.989
16:1093538:A:GF241S0.981
16:1093793:A:GF156S0.980
16:1093904:A:GF119S0.980
16:1093770:A:CY164D0.979
16:1093904:A:CF119C0.979
16:1093847:A:CF138C0.977
16:1093532:C:TG243D0.975
16:1093523:A:TV246D0.972
16:1093642:G:CS206R0.972
16:1093642:G:TS206R0.972
16:1093644:T:GS206R0.972
16:1093813:G:CF149L0.972
16:1093813:G:TF149L0.972
16:1093815:A:GF149L0.972
16:1093792:G:CF156L0.968
16:1093792:G:TF156L0.968
16:1093794:A:GF156L0.968
16:1093534:G:CS242R0.967
16:1093534:G:TS242R0.967
16:1093536:T:GS242R0.967
16:1093793:A:CF156C0.962
16:1093660:G:CS200R0.961
16:1093660:G:TS200R0.961
16:1093662:T:GS200R0.961

dbSNP variants (sampled 300 via entrez): RS1000179039 (16:1097241 C>A,T), RS1000276425 (16:1092373 G>A,C), RS1000303863 (16:1088941 T>A,C), RS1000610770 (16:1091571 G>A), RS1000643131 (16:1096272 A>G), RS1000714104 (16:1096793 T>G), RS1001387325 (16:1089619 G>C), RS1001421058 (16:1090061 G>A), RS1001577332 (16:1094205 G>A), RS1001873682 (16:1089917 G>A), RS1002193823 (16:1089830 G>T), RS1002529487 (16:1095381 G>A), RS1002583410 (16:1095231 T>G), RS1002731798 (16:1098163 G>A), RS1002756011 (16:1097938 G>C,T)

Disease associations

OMIM: gene MIM:614147 | disease phenotypes: MIM:600669, MIM:617027

GenCC curated gene-disease

Mondo (3): epilepsy (MONDO:0005027), idiopathic generalized epilepsy (MONDO:0005579), hyperaldosteronism, familial, type IV (MONDO:0014875)

Orphanet (1): Familial hyperaldosteronism type IV (Orphanet:642671)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST007005_8Logical memory (immediate recall) in normal cognition3.000000e-07

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004874memory performance

MeSH disease descriptors (2)

DescriptorNameTree numbers
D004827EpilepsyC10.228.140.490
C562694Epilepsy, Idiopathic Generalized (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression1
Resveratrolaffects cotreatment, decreases expression1
Acetaminophenincreases expression1
Arsenicdecreases expression1
Benzo(a)pyreneaffects methylation1
Plant Extractsaffects cotreatment, decreases expression1
Tobacco Smoke Pollutiondecreases expression1
Valproic Acidincreases methylation1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00004637PHASE4COMPLETEDDouble-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy
NCT00043914PHASE4COMPLETEDMeasurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy
NCT00132223PHASE4UNKNOWNEffects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients
NCT00133081PHASE4UNKNOWNStudy to Improve the Treatment of Epilepsy (SITE)
NCT00137709PHASE4UNKNOWNHormone Profiles in Adults With Newly Diagnosed Epilepsy
NCT00154076PHASE4COMPLETEDA Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies
NCT00165828PHASE4TERMINATEDEfficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization
NCT00181116PHASE4COMPLETEDLevetiracetam for Benign Rolandic Epilepsy
NCT00207935PHASE4COMPLETEDUse of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population
NCT00215592PHASE4COMPLETEDOpen Label, Zonegran (Zonisamide) In Partial Onset Seizures
NCT00266604PHASE4COMPLETEDA Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy
NCT00288639PHASE4COMPLETEDLyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER).
NCT00312676PHASE4UNKNOWNCompare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote
NCT00323947PHASE4COMPLETEDMethylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy
NCT00385411PHASE4COMPLETEDStudy of Valproate in Young Patients Suffering From Epilepsy
NCT00522418PHASE4TERMINATEDStudy Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients
NCT00537940PHASE4COMPLETEDComparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures
NCT00552526PHASE4UNKNOWNKetogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy
NCT00564915PHASE4COMPLETEDRCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy
NCT00571155PHASE4COMPLETEDTrial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery
NCT00572195PHASE4COMPLETEDRNS® System LTT Study
NCT00610532PHASE4TERMINATEDEvaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy
NCT00630357PHASE4COMPLETEDTrial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy
NCT00630630PHASE4COMPLETEDStudy on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy
NCT00630968PHASE4COMPLETEDS.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00631150PHASE4COMPLETEDA Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00659958PHASE4COMPLETEDZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs
NCT00713622PHASE4COMPLETEDComparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate
NCT00807989PHASE4COMPLETEDThe Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy
NCT00832884PHASE4COMPLETEDThe Safety of Intravenous Lacosamide
NCT00869622PHASE4COMPLETEDAntiepileptic Drugs and Osteoporotic Prevention Trial
NCT00896987PHASE4COMPLETEDLamotrigine Cognitive Function Study in Adult Untreated Epilepsies
NCT00952081PHASE4COMPLETEDA Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients
NCT01118455PHASE4TERMINATEDTrial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures
NCT01127165PHASE4COMPLETEDLow and High Dose Zonisamide in Children as Monotherapy
NCT01127256PHASE4COMPLETEDComparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation
NCT01140867PHASE4COMPLETEDOpen-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy
NCT01175954PHASE4COMPLETEDCognitive and Behavioral Effects of Lacosamide
NCT01229735PHASE4COMPLETEDLevetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures
NCT01244724PHASE4TERMINATEDLexapro for Major Depression in Patients With Epilepsy