Gene Gene information from NCBI Gene database.
Entrez ID 84871
Gene name AGBL carboxypeptidase 4
Gene symbol AGBL4
Synonyms (NCBI Gene)
CCP6
Chromosome 1
Chromosome location 1p33
miRNA miRNA information provided by mirtarbase database.
48
miRTarBase ID miRNA Experiments Reference
MIRT771678 hsa-miR-1238 CLIP-seq
MIRT771679 hsa-miR-1254 CLIP-seq
MIRT771680 hsa-miR-1290 CLIP-seq
MIRT771681 hsa-miR-1825 CLIP-seq
MIRT771682 hsa-miR-3116 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity IBA
GO:0004181 Function Metallocarboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity ISS
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616476 25892 ENSG00000186094
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VU57
Protein name Cytosolic carboxypeptidase 6 (EC 3.4.17.24) (ATP/GTP-binding protein-like 4) (Protein deglutamylase CCP6)
Protein function Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18027 Pepdidase_M14_N 46 166 Cytosolic carboxypeptidase N-terminal domain Domain
PF00246 Peptidase_M14 174 439 Zinc carboxypeptidase Domain
Sequence
Sequence length 503
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AGBL4-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration BEFREE 17293598, 23365078
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26993597 Inhibit
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 37370144 Associate
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis GWASCAT_DG 28881265
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms Esophagus Neoplasm GWASDB_DG 22960999
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35295612 Associate
★☆☆☆☆
Found in Text Mining only
Macular Degeneration Macular degeneration Pubtator 23365078 Associate
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 30626913
★★☆☆☆
Found in Text Mining + Unknown/Other Associations