Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
114902
Gene name Gene Name - the full gene name approved by the HGNC.
C1q and TNF related 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C1QTNF5
Synonyms (NCBI Gene) Gene synonyms aliases
CTRP5, MFRP
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
HNF4A Activation 20621834
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005581 Component Collagen trimer IEA
GO:0005615 Component Extracellular space IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0042995 Component Cell projection IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608752 14344 ENSG00000223953
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Retinal degeneration LATE-ONSET RETINAL DEGENERATION (disorder), Late-onset retinal degeneration rs111033578, rs1569848362, rs1591299252, rs754954058, rs1700769766 12944416, 22892318
Age-related macular degeneration Age related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)
16123441
Retinal dystrophy Retinal Dystrophies rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803
View all (2328 more)
Retinitis pigmentosa Retinitis Pigmentosa rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114
View all (1830 more)
Associations from Text Mining
Disease Name Relationship Type References
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