C1QTNF5 (C1q and TNF related 5)

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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
HNF4A Activation 20621834
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608752 14344 ENSG00000223953
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 243
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Late-onset retinal degeneration Likely pathogenic; Pathogenic rs1591299252, rs111033578 RCV002250440
RCV000002208
RCV001005000
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy Likely pathogenic; Pathogenic rs1591299252, rs111033578, rs906525288, rs1555036138 RCV004816986
RCV001074679
RCV000504811
RCV000505113
RCV001073255
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
C1QTNF5-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 6 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (96)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult-onset night blindness Night Blindness HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 12944416, 16123441, 16600989, 22110650, 22892318, 24531000, 29721928
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration CTD_human_DG 16123441
★★★★★
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 32996714 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 18648522, 18781223, 22933837, 26854036, 29170418, 30348125
★★★★★
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma LHGDN 18648522, 18781223
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30300788
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30300788
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 25814825
★★★★★
★☆☆☆☆
Found in Text Mining only
Choroidal Neovascularization Choroidal neovascularization Pubtator 33990119 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only