AGBL4 (AGBL carboxypeptidase 4)

2014-08-01  

Identity

HGNC
AGBL4
LOCATION
1p33
LOCUSID
84871
ALIAS
CCP6
FUSION GENES
Show Gene Fusions

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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166048654ustekinumabChemicalVariantAnnotationassociatedPD27977334
PA445451PsoriasisDiseaseVariantAnnotationassociatedPD27977334
PA445941TuberculosisDiseaseClinicalAnnotationassociatedPD
PA451250rifampinChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
366747912023Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly.2
372262382023CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis.3
366747912023Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly.2
372262382023CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis.3
307206672019Association of FAM65B, AGBL4, and CUX2 genetic polymorphisms with susceptibility to antituberculosis drug-induced hepatotoxicity: validation study in a Chinese Han population.2
307206672019Association of FAM65B, AGBL4, and CUX2 genetic polymorphisms with susceptibility to antituberculosis drug-induced hepatotoxicity: validation study in a Chinese Han population.2
278532782016Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.5
278532782016Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.5
254167872015Comparison of the enzymatic and functional properties of three cytosolic carboxypeptidase family members.15
254726522015Clinical Relevance of Plasma DNA Methylation in Colorectal Cancer Patients Identified by Using a Genome-Wide High-Resolution Array.28
254167872015Comparison of the enzymatic and functional properties of three cytosolic carboxypeptidase family members.15
254726522015Clinical Relevance of Plasma DNA Methylation in Colorectal Cancer Patients Identified by Using a Genome-Wide High-Resolution Array.28
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94

Citation

Dessen P

AGBL4 (AGBL carboxypeptidase 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54111/agbl4-(agbl-carboxypeptidase-4)