CILP (cartilage intermediate layer protein)

2018-07-01  

Identity

HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
CILP-1,HsT18872
FUSION GENES

Other Information

Locus ID:

NCBI: 8483
MIM: 603489
HGNC: 1980
Ensembl: ENSG00000138615

Variants:

dbSNP: 8483
ClinVar: 8483
TCGA: ENSG00000138615
COSMIC: CILP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138615ENST00000261883O75339

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
158643062005A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease.68
164532842006Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women.48
221077602011Genetic susceptibility of intervertebral disc degeneration among young Finnish adults.26
172202132007Phenotypic and population differences in the association between CILP and lumbar disc disease.14
207246432010Cartilage intermediate layer protein gene is associated with lumbar disc degeneration in male, but not female, collegiate athletes.8
207246432010Cartilage intermediate layer protein gene is associated with lumbar disc degeneration in male, but not female, collegiate athletes.8
195690112009The cartilage intermediate layer protein gene is associated with lumbar disc degeneration in collegiate judokas.7
164135032006Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene.6
273593562016Association Between Cartilage Intermediate Layer Protein and Degeneration of Intervertebral Disc: A Meta-analysis.2
292330862017Functional polymorphisms in asporin and CILP together with joint loading predispose to hand osteoarthritis.2

Citation

Dessen P

CILP (cartilage intermediate layer protein)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57460/cilp