C1QTNF5 (C1q and TNF related 5)

2003-06-01  

Identity

HGNC
C1QTNF5
LOCATION
11q23.3
LOCUSID
114902
ALIAS
CTRP5,MFRP

Other Information

Locus ID:

NCBI: 114902
MIM: 608752
HGNC: 14344
Ensembl: ENSG00000223953

Variants:

dbSNP: 114902
ClinVar: 114902
TCGA: ENSG00000223953
COSMIC: C1QTNF5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000223953ENST00000528368Q9BXJ0
ENSG00000223953ENST00000528368A0A024R3F8
ENSG00000223953ENST00000530681Q9BXJ0
ENSG00000223953ENST00000530681A0A024R3F8
ENSG00000223953ENST00000634633A0A0U1RQW5

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
129444162003Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.55
161234412005Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.40
112639802001Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein.30
166009892006Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.24
177663662008Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people.20
220315102012Effects of aerobic exercise training on C1q tumor necrosis factor α-related protein isoform 5 (myonectin): association with insulin resistance and mitochondrial DNA density in women.16
163766632005Long anterior lens zonules in late-onset retinal degeneration (L-ORD).14
234305732013Regulation and function of C1Q/TNF-related protein-5 (CTRP-5) in the context of adipocyte biology.13
228923182012Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.12

Citation

Dessen P

C1QTNF5 (C1q and TNF related 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/877/c1qtnf5-(c1q-and-tnf-related-5)