Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	114902
Gene name	C1q and TNF related 5
Gene symbol	C1QTNF5
Synonyms (NCBI Gene)	CTRP5MFRP
Chromosome	11
Chromosome location	11q23.3
Summary	This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by eith

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miRTarBase ID	miRNA	Experiments
MIRT842338	hsa-miR-1245	CLIP-seq
MIRT842339	hsa-miR-3150a-3p	CLIP-seq
MIRT842340	hsa-miR-3175	CLIP-seq
MIRT842341	hsa-miR-3663-5p	CLIP-seq
MIRT842342	hsa-miR-3921	CLIP-seq
MIRT842343	hsa-miR-4251	CLIP-seq
MIRT842344	hsa-miR-4329	CLIP-seq
MIRT842345	hsa-miR-4459	CLIP-seq
MIRT842346	hsa-miR-4651	CLIP-seq
MIRT842347	hsa-miR-4653-5p	CLIP-seq
MIRT842348	hsa-miR-4658	CLIP-seq
MIRT842349	hsa-miR-4695-3p	CLIP-seq
MIRT842350	hsa-miR-4722-5p	CLIP-seq
MIRT842351	hsa-miR-4758-5p	CLIP-seq
MIRT842352	hsa-miR-4765	CLIP-seq
MIRT842353	hsa-miR-4779	CLIP-seq
MIRT842354	hsa-miR-491-5p	CLIP-seq
MIRT842355	hsa-miR-539	CLIP-seq
MIRT842356	hsa-miR-608	CLIP-seq
MIRT842357	hsa-miR-635	CLIP-seq
MIRT842358	hsa-miR-665	CLIP-seq
MIRT842359	hsa-miR-939	CLIP-seq

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Transcription factor	Regulation	Reference
HNF4A	Activation	20621834

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16600989, 17122143, 24531000, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0009306	Process	Protein secretion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16600989, 24531000
GO:0042995	Component	Cell projection	IBA
GO:0042995	Component	Cell projection	IEA
GO:0048839	Process	Inner ear development	IEA

MIM	HGNC	e!Ensembl
608752	14344	ENSG00000223953

Q9BXJ0

Protein name

Complement C1q tumor necrosis factor-related protein 5

PDB

4F3J , 4NN0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	27 → 101	Collagen triple helix repeat (20 copies)	Repeat
PF00386	C1q	105 → 232	C1q domain	Domain

Sequence

MRPLLVLLLLGLAAGSPPLDDNKIPSLCPGHPGLPGTPGHHGSQGLPGRDGRDGRDGAPG
APGEKGEGGRPGLPGPRGDPGPRGEAGPAGPTGPAGECSVPPRSAFSAKRSESRVPPPSD
APLPFDRVLVNEQGHYDAVTGKFTCQVPGVYYFAVHATVYRASLQFDLVKNGESIASFFQ
FFGGWPKPASLSGGAMVRLEPEDQVWVQVGVGDYIGIYASIKTDSTFSGFLVYSDWHSSP
VFA

Sequence length

243

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Late-onset retinal degeneration	Likely pathogenic; Pathogenic	rs1591299252, rs111033578	RCV002250440 RCV000002208 RCV001005000
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1591299252, rs111033578, rs906525288, rs1555036138	RCV004816986 RCV001074679 RCV000504811 RCV000505113 RCV001073255

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
C1QTNF5-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs2497070559, rs369839371, rs751346951, rs932268494	RCV003901279 RCV003915714 RCV003905553 RCV003906170
Retinal degeneration	Likely benign; Conflicting classifications of pathogenicity	rs75463316, rs79836575, rs883246	RCV000314159 RCV000307664 RCV000391949

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aicardi Goutieres syndrome	Associate	32996714
Choroidal Neovascularization	Associate	33990119
Cone Rod Dystrophies	Associate	29555955
Coronary Artery Disease	Stimulate	36603481
Diabetes Mellitus Type 2	Inhibit	28632765
Extranodal Extension	Associate	34887495
Gyrate Atrophy	Associate	33669876
Hyperlipidemias	Associate	33990119
Inflammation	Associate	16059715, 36451477
Kenny Caffey syndrome type 2	Associate	32996714
Late Onset Retinal Degeneration	Associate	22892318, 23289492, 28939808, 34887495, 37207468, 38133503
Macular Degeneration	Associate	30451557
Nanophthalmos 1	Associate	32996714
Night Blindness	Associate	23289492, 30451557
Obesity	Associate	16059715
Patterned dystrophy of retinal pigment epithelium	Associate	23289492, 34887495
Polycystic Ovary Syndrome	Stimulate	34907845
Retinal Degeneration	Associate	26197217, 27388725, 33990119, 34887495
Retinal Dystrophies	Associate	26197217, 30451557, 32996714
Retinitis	Associate	22892318, 27388725
Scleroderma Systemic	Stimulate	33253093
Vision Disorders	Associate	23289492, 30451557

C1QTNF5 (C1q and TNF related 5)