Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 60509
MIM: 615900
HGNC: 26147
Ensembl: ENSG00000084693
Variants:
dbSNP: 60509
ClinVar: 60509
TCGA: ENSG00000084693
COSMIC: AGBL5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37226238 | 2023 | CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis. | 3 |
| 37226238 | 2023 | CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis. | 3 |
| 30925032 | 2019 | The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. | 8 |
| 30925032 | 2019 | The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. | 8 |
| 26355662 | 2016 | Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. | 53 |
| 27764769 | 2016 | Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. | 16 |
| 27842159 | 2016 | Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. | 12 |
| 26355662 | 2016 | Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. | 53 |
| 27764769 | 2016 | Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. | 16 |
| 27842159 | 2016 | Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. | 12 |
| 26720455 | 2015 | Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. | 15 |
| 26720455 | 2015 | Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
AGBL5 (AGBL carboxypeptidase 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60196/agbl5-(agbl-carboxypeptidase-5)
