AGBL4 (AGBL carboxypeptidase 4)

2014-08-01  

Identity

HGNC
LOCATION
1p33
LOCUSID
ALIAS
CCP6
FUSION GENES

Other Information

Locus ID:

NCBI: 84871
MIM: 616476
HGNC: 25892
Ensembl: ENSG00000186094

Variants:

dbSNP: 84871
ClinVar: 84871
TCGA: ENSG00000186094
COSMIC: AGBL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186094ENST00000334103F8VWL7
ENSG00000186094ENST00000371836B1ANV5
ENSG00000186094ENST00000371838B1AMW3
ENSG00000186094ENST00000371839Q5VU57
ENSG00000186094ENST00000416121H0Y5X4

Expression (GTEx)

0
1
2
3

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166048654ustekinumabChemicalVariantAnnotationassociatedPD27977334
PA445451PsoriasisDiseaseVariantAnnotationassociatedPD27977334
PA445941TuberculosisDiseaseClinicalAnnotationassociatedPD
PA451250rifampinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
254726522015Clinical Relevance of Plasma DNA Methylation in Colorectal Cancer Patients Identified by Using a Genome-Wide High-Resolution Array.20
254167872015Comparison of the enzymatic and functional properties of three cytosolic carboxypeptidase family members.4
278532782016Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.3
307206672019Association of FAM65B, AGBL4, and CUX2 genetic polymorphisms with susceptibility to antituberculosis drug-induced hepatotoxicity: validation study in a Chinese Han population.0

Citation

Dessen P

AGBL4 (AGBL carboxypeptidase 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54111/agbl4