C1QTNF7

Summary

C1QTNF7 (C1q and TNF related 7, HGNC:14342) is a protein-coding gene on chromosome 4p15.32, encoding Complement C1q tumor necrosis factor-related protein 7 (Q9BXJ2).

Predicted to enable identical protein binding activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer.

Source: NCBI Gene 114905 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 54 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_031911

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14342
Approved symbol	C1QTNF7
Name	C1q and TNF related 7
Location	4p15.32
Locus type	gene with protein product
Status	Approved
Aliases	CTRP7
Ensembl gene	ENSG00000163145
Ensembl biotype	protein_coding
Entrez	114905

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000295297, ENST00000382383, ENST00000397700, ENST00000429690, ENST00000444304, ENST00000510958, ENST00000512144, ENST00000881532

RefSeq mRNA: 3 — MANE Select: NM_031911 NM_001135170, NM_001135171, NM_031911

CCDS: CCDS3414, CCDS47025

Canonical transcript exons

ENST00000444304 — 3 exons

Exon	Start	End
ENSE00001787933	15428033	15428106
ENSE00002087946	15442168	15446167
ENSE00003646366	15435736	15435981

Expression profiles

Bgee: expression breadth ubiquitous, 192 present calls, max score 94.98.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0100 / max 76.7478, expressed in 188 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46976	0.5652	121
46980	0.1801	74
46977	0.0984	46
46981	0.0817	49
46975	0.0471	26
46978	0.0376	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	94.98	gold quality
popliteal artery	UBERON:0002250	87.40	gold quality
tibial artery	UBERON:0007610	87.38	gold quality
layer of synovial tissue	UBERON:0007616	87.10	gold quality
tendon	UBERON:0000043	86.81	gold quality
aorta	UBERON:0000947	85.87	gold quality
gall bladder	UBERON:0002110	85.87	gold quality
epithelial cell of pancreas	CL:0000083	85.68	gold quality
descending thoracic aorta	UBERON:0002345	84.97	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.76	gold quality
thoracic aorta	UBERON:0001515	84.00	gold quality
ascending aorta	UBERON:0001496	83.87	gold quality
smooth muscle tissue	UBERON:0001135	83.25	gold quality
ectocervix	UBERON:0012249	82.73	gold quality
right coronary artery	UBERON:0001625	82.48	gold quality
uterine cervix	UBERON:0000002	82.25	gold quality
endocervix	UBERON:0000458	81.89	gold quality
urinary bladder	UBERON:0001255	81.68	gold quality
right lung	UBERON:0002167	81.65	gold quality
left coronary artery	UBERON:0001626	81.49	gold quality
coronary artery	UBERON:0001621	81.27	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.61	gold quality
lower esophagus	UBERON:0013473	80.54	gold quality
muscle layer of sigmoid colon	UBERON:0035805	80.40	gold quality
left ovary	UBERON:0002119	80.39	gold quality
right ovary	UBERON:0002118	79.86	gold quality
vagina	UBERON:0000996	79.72	gold quality
fundus of stomach	UBERON:0001160	79.54	gold quality
tendon of biceps brachii	UBERON:0008188	79.37	gold quality
ovary	UBERON:0000992	78.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

117 targeting C1QTNF7, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-6768-5P	99.92	67.36	1942

Literature-anchored findings (GeneRIF, showing 2)

• found four markers that meet the criteria for genome-wide significance (P<5x10-8) with the CD symptom count, two of which are located in the gene C1QTNF7 (C1q and tumor necrosis factor-related protein 7). (PMID:20585324)
• Implications of C1q/TNF-related protein superfamily in patients with coronary artery disease. (PMID:31965030)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	c1qtnf7	ENSDARG00000074949
mus_musculus	C1qtnf7	ENSMUSG00000061535
rattus_norvegicus	C1qtnf7	ENSRNOG00000005094

Paralogs (23): C1QTNF3 (ENSG00000082196), COL19A1 (ENSG00000082293), PDCD7 (ENSG00000090470), COL10A1 (ENSG00000123500), C1QL1 (ENSG00000131094), C1QTNF6 (ENSG00000133466), C1QL2 (ENSG00000144119), COL8A1 (ENSG00000144810), C1QTNF2 (ENSG00000145861), C1QC (ENSG00000159189), 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 7 — Q9BXJ2 (reviewed: Q9BXJ2)

All UniProt accessions (3): A0A0A0MS83, Q9BXJ2, J3KPK0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BXJ2-1	1	yes
Q9BXJ2-2	2

RefSeq proteins (3): NP_001128642, NP_001128643, NP_114117* (*=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 (8 total): domain 2, compositionally biased region 2, signal peptide 1, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXJ2-F1	74.35	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 92 (showing top): GOCC_COLLAGEN_TRIMER, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, ATGTTAA_MIR302C, NKX61_01, WTGAAAT_UNKNOWN, E4F1_Q6, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, AACTTT_UNKNOWN, GFI1_01, CREB_Q3, CUI_TCF21_TARGETS_2_DN, WGTTNNNNNAAA_UNKNOWN, E4BP4_01, chr4p15

GO Biological Process (0):

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

GO Cellular Component (4): collagen trimer (GO:0005581), obsolete extracellular space (GO:0005615), extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	1
binding	1
protein-containing complex	1
cellular anatomical structure	1
endoplasmic reticulum	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1028 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1QTNF7	C1QTNF12	Q5T7M4	547
C1QTNF7	CLEC19A	Q6UXS0	543
C1QTNF7	TMEM69	Q5SWH9	531
C1QTNF7	CCDC137	Q6PK04	473
C1QTNF7	CBLN3	Q6UW01	390
C1QTNF7	IL6ST	P40189	387
C1QTNF7	MRGPRX3	Q96LB0	373
C1QTNF7	ZC3H10	Q96K80	363
C1QTNF7	LAMB4	A4D0S4	356
C1QTNF7	ZSWIM1	Q9BR11	335
C1QTNF7	ADIPOQ	Q15848	326
C1QTNF7	ERFE	Q4G0M1	318
C1QTNF7	KCNQ4	P56696	315
C1QTNF7	SPICE1	Q8N0Z3	312
C1QTNF7	WFS1	O76024	311
C1QTNF7	USH2A	O75445	311

IntAct

2 interactions, top by confidence:

A	B	Type	Score
C1QTNF7	AGRN	psi-mi:“MI:0914”(association)	0.350

BioGRID (68): C1QTNF7 (Positive Genetic), TRIM68 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), KDELC2 (Affinity Capture-MS), BCHE (Affinity Capture-MS), CHST7 (Affinity Capture-MS), MAN2A1 (Affinity Capture-MS), ICAM4 (Affinity Capture-MS), GDF11 (Affinity Capture-MS), ARSK (Affinity Capture-MS), FBLN1 (Affinity Capture-MS), NXPH4 (Affinity Capture-MS), VHL (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), POMT2 (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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	48
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	Pathogenic
1340782	GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3	Likely pathogenic

SpliceAI

480 predictions. Top by Δscore:

Variant	Effect	Δscore
4:15374765:GCAAT:G	donor_gain	0.9900
4:15374766:CAAT:C	donor_gain	0.9900
4:15374768:AT:A	donor_gain	0.9900
4:15374769:TG:T	donor_loss	0.9900
4:15374770:G:GA	donor_loss	0.9900
4:15374770:G:GG	donor_gain	0.9900
4:15374771:T:A	donor_loss	0.9900
4:15435734:A:AG	acceptor_gain	0.9900
4:15435735:G:GG	acceptor_gain	0.9900
4:15374767:AAT:A	donor_gain	0.9800
4:15435735:GA:G	acceptor_gain	0.9800
4:15435928:G:GT	donor_gain	0.9800
4:15374774:G:GG	donor_gain	0.9700
4:15422451:G:T	donor_gain	0.9700
4:15435730:TTCCA:T	acceptor_loss	0.9700
4:15435731:TCCA:T	acceptor_loss	0.9700
4:15435732:CCAGA:C	acceptor_loss	0.9700
4:15435733:CAGA:C	acceptor_loss	0.9700
4:15435734:AGAG:A	acceptor_loss	0.9700
4:15435735:G:GT	acceptor_loss	0.9700
4:15435768:A:G	acceptor_gain	0.9700
4:15435951:A:T	donor_gain	0.9700
4:15435978:GCAG:G	donor_loss	0.9700
4:15435979:CAG:C	donor_loss	0.9700
4:15435980:AGGT:A	donor_loss	0.9700
4:15435981:GGTAA:G	donor_loss	0.9700
4:15435982:G:A	donor_loss	0.9700
4:15435983:T:C	donor_loss	0.9700
4:15374773:A:AG	donor_gain	0.9600
4:15435735:GAGCC:G	acceptor_gain	0.9600

AlphaMissense

1863 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:15442476:G:T	G183W	0.999
4:15442483:T:C	F185S	0.999
4:15442489:G:A	C187Y	0.999
4:15442490:T:G	C187W	0.999
4:15442500:G:T	G191W	0.999
4:15442513:T:C	F195S	0.999
4:15442546:T:C	L206P	0.999
4:15442558:T:C	L210P	0.999
4:15442623:T:C	S232P	0.999
4:15442645:T:C	L239P	0.999
4:15442669:T:C	L247P	0.999
4:15442725:A:C	S266R	0.999
4:15442727:C:A	S266R	0.999
4:15442727:C:G	S266R	0.999
4:15442737:G:T	G270W	0.999
4:15442377:T:C	F150L	0.998
4:15442378:T:C	F150S	0.998
4:15442379:T:A	F150L	0.998
4:15442379:T:G	F150L	0.998
4:15442384:T:A	V152D	0.998
4:15442429:T:C	F167S	0.998
4:15442461:T:G	Y178D	0.998
4:15442477:G:T	G183V	0.998
4:15442488:T:C	C187R	0.998
4:15442506:T:G	Y193D	0.998
4:15442615:A:T	D229V	0.998
4:15442629:T:C	S234P	0.998
4:15442663:T:A	V245D	0.998
4:15442732:T:C	F268S	0.998
4:15442737:G:A	G270R	0.998

dbSNP variants (sampled 300 via entrez): RS1000000807 (4:15386328 C>T), RS1000006891 (4:15439985 A>G), RS1000014567 (4:15431719 T>C), RS10000232 (4:15355667 A>C), RS1000027096 (4:15354384 T>C), RS1000070684 (4:15343179 T>A), RS1000078985 (4:15354073 T>C), RS1000145883 (4:15348946 A>C), RS1000157185 (4:15349278 C>T), RS1000169728 (4:15394021 T>C), RS1000171706 (4:15384977 G>C), RS1000237437 (4:15436166 T>C), RS1000248175 (4:15360026 C>A), RS1000248594 (4:15434043 T>C), RS1000255952 (4:15399206 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000713_15	Conduct disorder (symptom count)	4.000000e-06
GCST000713_8	Conduct disorder (symptom count)	3.000000e-09
GCST000714_4	Conduct disorder	6.000000e-08
GCST002279_86	PR interval in Tripanosoma cruzi seropositivity	2.000000e-07
GCST003998_24	Joint mobility (Beighton score)	7.000000e-07
GCST006479_56	Diverticular disease	2.000000e-07
GCST006629_94	Pulse pressure	7.000000e-11
GCST008440_1	Periodontal disease related phenotype (PCT3)	2.000000e-08
GCST009391_137	Metabolite levels	9.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004462	PR interval
EFO:0007905	joint hypermobility measurement
EFO:0009959	diverticular disease
EFO:0005763	pulse pressure measurement
EFO:0007780	periodontal measurement
EFO:0010355	diacylglycerol 36:2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10032941	C1QTNF7		0.00	0

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	decreases expression, affects cotreatment	1
bisphenol A	affects methylation, affects cotreatment, decreases methylation	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	decreases expression	1
bisphenol S	affects cotreatment, affects methylation, decreases methylation	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation, affects methylation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Chenodeoxycholic Acid	affects cotreatment, decreases expression	1
Deoxycholic Acid	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Folic Acid	decreases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, decreases expression	1
Glycocholic Acid	affects cotreatment, decreases expression	1
Glycodeoxycholic Acid	affects cotreatment, decreases expression	1
Nickel	decreases expression	1
Progesterone	affects cotreatment, decreases expression	1
Smoke	increases expression	1
Valproic Acid	decreases expression	1
Cyclosporine	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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