AGBL5 (AGBL carboxypeptidase 5)

2014-11-01  

Identity

HGNC
LOCATION
2p23.3
LOCUSID
ALIAS
CCP5,RP75
FUSION GENES

Other Information

Locus ID:

NCBI: 60509
MIM: 615900
HGNC: 26147
Ensembl: ENSG00000084693

Variants:

dbSNP: 60509
ClinVar: 60509
TCGA: ENSG00000084693
COSMIC: AGBL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084693ENST00000323064Q8NDL9
ENSG00000084693ENST00000360131Q8NDL9
ENSG00000084693ENST00000421915C9JCE1
ENSG00000084693ENST00000437006C9JHM6
ENSG00000084693ENST00000441931H7C1L5
ENSG00000084693ENST00000451003C9JTY1
ENSG00000084693ENST00000453161C9JQG9
ENSG00000084693ENST00000487078Q8NDL9

Expression (GTEx)

0
50
100
150
200
250
300
350

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
263556622016Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.24
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
267204552015Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.5
277647692016Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.4
278421592016Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.2
309250322019The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.1

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)