AGBL4

Summary

AGBL4 (AGBL carboxypeptidase 4, HGNC:25892) is a protein-coding gene on chromosome 1p33, encoding Cytosolic carboxypeptidase 6 (Q5VU57). Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins.

Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in C-terminal protein deglutamylation; defense response to virus; and protein side chain deglutamylation. Predicted to act upstream of or within several processes, including axonal transport of mitochondrion; positive regulation of ubiquitin-dependent protein catabolic process; and regulation of blastocyst development. Located in Golgi apparatus; centriole; and ciliary basal body.

Source: NCBI Gene 84871 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 171 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_032785

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25892
Approved symbol	AGBL4
Name	AGBL carboxypeptidase 4
Location	1p33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14442, CCP6
Ensembl gene	ENSG00000186094
Ensembl biotype	protein_coding
OMIM	616476
Entrez	84871

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371836, ENST00000371838, ENST00000371839, ENST00000416121, ENST00000497451

RefSeq mRNA: 4 — MANE Select: NM_032785 NM_001323573, NM_001323574, NM_001323575, NM_032785

CCDS: CCDS44137

Canonical transcript exons

ENST00000371839 — 14 exons

Exon	Start	End
ENSE00001336813	48634493	48634604
ENSE00001338588	48587004	48587166
ENSE00001338591	48590833	48590985
ENSE00001456265	48532854	48534293
ENSE00001456266	48534890	48534916
ENSE00001456267	48539642	48539738
ENSE00001456270	48867191	48867230
ENSE00001456271	49045584	49045800
ENSE00001456273	49245770	49245864
ENSE00003587610	49697313	49697437
ENSE00003638143	49851396	49851518
ENSE00003661743	48663152	48663241
ENSE00003742358	48653337	48653451
ENSE00003842072	50023763	50023954

Expression profiles

Bgee: expression breadth ubiquitous, 149 present calls, max score 89.23.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4304 / max 235.5732, expressed in 237 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12266	1.7518	198
12267	0.3752	133
12265	0.2160	78
12264	0.0874	43

Top tissues by expression

233 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	89.23	gold quality
tendon of biceps brachii	UBERON:0008188	87.13	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.50	gold quality
prefrontal cortex	UBERON:0000451	77.18	gold quality
Brodmann (1909) area 23	UBERON:0013554	75.58	gold quality
primary visual cortex	UBERON:0002436	75.22	gold quality
Brodmann (1909) area 9	UBERON:0013540	72.63	gold quality
frontal cortex	UBERON:0001870	71.49	gold quality
right frontal lobe	UBERON:0002810	71.10	gold quality
neocortex	UBERON:0001950	70.82	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	70.79	gold quality
middle temporal gyrus	UBERON:0002771	69.48	silver quality
anterior cingulate cortex	UBERON:0009835	69.39	gold quality
right uterine tube	UBERON:0001302	69.22	gold quality
occipital lobe	UBERON:0002021	69.16	gold quality
islet of Langerhans	UBERON:0000006	69.00	gold quality
cerebral cortex	UBERON:0000956	68.28	gold quality
pituitary gland	UBERON:0000007	66.20	gold quality
forebrain	UBERON:0001890	65.65	gold quality
hypothalamus	UBERON:0001898	65.32	gold quality
adenohypophysis	UBERON:0002196	65.27	gold quality
secondary oocyte	CL:0000655	64.79	gold quality
ventricular zone	UBERON:0003053	64.36	gold quality
nucleus accumbens	UBERON:0001882	64.09	gold quality
right atrium auricular region	UBERON:0006631	63.84	gold quality
bronchial epithelial cell	CL:0002328	63.78	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	63.56	gold quality
corpus callosum	UBERON:0002336	63.31	gold quality
caudate nucleus	UBERON:0001873	63.27	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	3933.19
E-CURD-119	yes	1512.61
E-HCAD-25	yes	93.51
E-HCAD-35	yes	88.07
E-ANND-3	yes	5.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting AGBL4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-7849-3P	99.47	68.17	1224

Literature-anchored findings (GeneRIF, showing 7)

• Nna1 and CCP4 remove the C-terminal glutamate from substrates with two or more glutamates, whereas CCP6 requires four or more glutamates. CCP4 behaves as a promiscuous glutamase with little preference for chain length or neighboring amino acid composition (PMID:25416787)
• AGBL4 promoter hypermethylation is associated with Colorectal Cancer. (PMID:25472652)
• ABGL4, LRP8 and PCSK9 polymorphisms and gene interactions increase cardiometabolic risk. (PMID:27853278)
• this is the first study to explore and validate the relationships between seven SNPs in the FAM65B, AGBL4, and CUX2 genes and ATDH in a Chinese population. On the basis of this case-control study, SNP rs10946737 in FAM65B may be associated with susceptibility to ATDH in Chinese Han anti-TB treatment patients. (PMID:30720667)
• Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. (PMID:36674791)
• CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis. (PMID:37226238)
• AGBL4 promotes malignant progression of glioblastoma via modulation of MMP-1 and inflammatory pathways. (PMID:39007144)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	AGBL4	ENSDARG00000110838
mus_musculus	Agbl4	ENSMUSG00000061298
drosophila_melanogaster	CG31019	FBGN0051019
caenorhabditis_elegans		WBGENE00017136

Paralogs (5): AGBL5 (ENSG00000084693), AGTPBP1 (ENSG00000135049), AGBL3 (ENSG00000146856), AGBL2 (ENSG00000165923), AGBL1 (ENSG00000273540)

Protein

Protein identifiers

Cytosolic carboxypeptidase 6 — Q5VU57 (reviewed: Q5VU57)

Alternative names: ATP/GTP-binding protein-like 4, Protein deglutamylase CCP6

All UniProt accessions (4): B1AMW3, B1ANV5, Q5VU57, H0Y5X4

UniProt curated annotations — full annotation on UniProt →

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 tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK. Mediates the deglutamylation of nucleotidyltransferase CGAS, leading to CGAS antiviral defense response activation. Involved in KLF4 deglutamylation which promotes KLF4 proteasome-mediated degradation, thereby negatively regulating cell pluripotency maintenance and embryogenesis.

Subunit / interactions. Interacts with MYLK.

Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Golgi apparatus. Cilium basal body.

Cofactor. Binds 1 zinc ion per subunit.

Similarity. Belongs to the peptidase M14 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5VU57-1	1	yes
Q5VU57-2	2

RefSeq proteins (4): NP_001310502, NP_001310503, NP_001310504, NP_116174* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000834	Peptidase_M14	Domain
IPR040626	Pepdidase_M14_N	Domain
IPR050821	Cytosolic_carboxypeptidase	Family

Pfam: PF00246, PF18027

Catalyzed reactions (Rhea), 2 shown:

• (L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + H2O = (L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + L-glutamate (RHEA:60004)
• C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl-[tubulin] + H2O = C-terminal L-alpha-aminoacyl-L-glutamyl-[tubulin] + L-glutamate (RHEA:63792)

UniProt features (14 total): binding site 3, splice variant 2, sequence conflict 2, compositionally biased region 2, chain 1, domain 1, sequence variant 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VU57-F1	87.59	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 401 (proton donor/acceptor)

Ligand- & substrate-binding residues (3): 230; 233; 328

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8955332	Carboxyterminal post-translational modifications of tubulin
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 120 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_AXO_DENDRITIC_TRANSPORT, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, GOBP_DEFENSE_RESPONSE_TO_VIRUS

GO Biological Process (12): proteolysis (GO:0006508), negative regulation of cell population proliferation (GO:0008285), central nervous system neuron development (GO:0021954), protein deglutamylation (GO:0035608), C-terminal protein deglutamylation (GO:0035609), protein side chain deglutamylation (GO:0035610), defense response to virus (GO:0051607), anterograde axonal transport of mitochondrion (GO:0098957), retrograde axonal transport of mitochondrion (GO:0098958), regulation of blastocyst development (GO:0120222), positive regulation of ubiquitin-dependent protein catabolic process (GO:2000060), axonal transport (GO:0098930)

GO Molecular Function (8): metallocarboxypeptidase activity (GO:0004181), zinc ion binding (GO:0008270), tubulin binding (GO:0015631), carboxypeptidase activity (GO:0004180), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (10): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), centriole (GO:0005814), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), ciliary basal body (GO:0036064), axon cytoplasm (GO:1904115), cytoskeleton (GO:0005856), axon (GO:0030424), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein deglutamylation	2
axonal transport of mitochondrion	2
axon	2
cytoplasm	2
microtubule organizing center	2
intracellular membraneless organelle	2
protein metabolic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
central nervous system neuron differentiation	1
neuron development	1
peptidyl-glutamic acid modification	1
C-terminal protein amino acid modification	1
defense response	1
response to virus	1
anterograde axonal transport	1
retrograde axonal transport	1
blastocyst development	1
regulation of developmental process	1
ubiquitin-dependent protein catabolic process	1
positive regulation of protein catabolic process	1
regulation of ubiquitin-dependent protein catabolic process	1
axo-dendritic transport	1
carboxypeptidase activity	1
metalloexopeptidase activity	1
transition metal ion binding	1
cytoskeletal protein binding	1
exopeptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cytoskeleton	1
cilium	1

Protein interactions and networks

STRING

626 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGBL4	TTLL4	Q14679	807
AGBL4	TTLL6	Q8N841	733
AGBL4	CFH	P08603	697
AGBL4	TTL	Q8NG68	653
AGBL4	CPXM2	Q8N436	634
AGBL4	CGAS	Q8N884	631
AGBL4	C3	P01024	611
AGBL4	TTLL1	O95922	543
AGBL4	TTLL5	Q6EMB2	542
AGBL4	TTLL13	A6NNM8	532
AGBL4	TTLL7	Q6ZT98	531
AGBL4	CRP	P02741	525
AGBL4	AGBL5	Q8NDL9	519
AGBL4	CCPG1	Q9ULG6	506
AGBL4	CLP1	Q92989	479

IntAct

4 interactions, top by confidence:

A	B	Type	Score
CFTR	AGBL4	psi-mi:“MI:0915”(physical association)	0.370
AGBL4	HSPA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (74): MTO1 (Affinity Capture-MS), CBWD3 (Affinity Capture-MS), TUBA1B (Affinity Capture-MS), DMXL1 (Affinity Capture-MS), WDR35 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), RICTOR (Affinity Capture-MS), CCT6A (Affinity Capture-MS), ESPL1 (Affinity Capture-MS), DMXL2 (Affinity Capture-MS), DISC1 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), DOCK6 (Affinity Capture-MS)

ESM2 similar proteins: A4FUN7, A5D9H7, A5PKA5, A5WWB0, A6H8I0, A6NNY8, C0HB46, D0RB01, F1M625, O75317, O89050, P0C8Z3, P50876, P50904, P62068, P62069, Q09LZ8, Q3TIX9, Q3UHD6, Q52KZ6, Q53GS9, Q5DU02, Q5F415, Q5F450, Q5IFJ9, Q5IS37, Q5IS82, Q5M981, Q5R4Q7, Q5R573, Q5R761, Q5RB35, Q5RBQ4, Q5RDP3, Q5VU57, Q60969, Q6DCJ1, Q6GNI6, Q8CEG8, Q8K4V4

Diamond homologs: A6H8T7, A9JRL3, B2GV17, D2GXM8, E1B9D8, E1C3P4, O76373, Q09296, Q09LZ8, Q09M02, Q09M05, Q0P4M4, Q4R632, Q4U2V3, Q5U5Z8, Q5VU57, Q641K1, Q6DD21, Q8CDK2, Q8CDP0, Q8I2A6, Q8NDL9, Q8NEM8, Q96MI9, Q9UPW5, Q9VY99, Q58CX9, B0JZV4, Q68EI3, P30795, A0A096LPI5, Q8N976, Q96MD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

171 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	140
Likely benign	14
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	Pathogenic

SpliceAI

6055 predictions. Top by Δscore:

Variant	Effect	Δscore
1:48539765:C:CC	acceptor_gain	1.0000
1:48587162:CTGGA:C	acceptor_gain	1.0000
1:48587167:C:CC	acceptor_gain	1.0000
1:48590822:T:TA	donor_gain	1.0000
1:48590823:C:CA	donor_gain	1.0000
1:48590827:GCTTA:G	donor_loss	1.0000
1:48590828:CTTA:C	donor_loss	1.0000
1:48590829:TTA:T	donor_loss	1.0000
1:48590830:TA:T	donor_loss	1.0000
1:48590831:A:AC	donor_gain	1.0000
1:48590831:ACAT:A	donor_loss	1.0000
1:48590832:C:CA	donor_gain	1.0000
1:48590832:CA:C	donor_gain	1.0000
1:48590832:CATA:C	donor_gain	1.0000
1:48590832:CATAG:C	donor_gain	1.0000
1:48590843:T:TA	donor_gain	1.0000
1:48590849:G:C	donor_gain	1.0000
1:48634491:A:AC	donor_gain	1.0000
1:48634492:C:CC	donor_gain	1.0000
1:48634492:CTGGG:C	donor_gain	1.0000
1:48653331:CCTTA:C	donor_loss	1.0000
1:48653332:CTTA:C	donor_loss	1.0000
1:48653334:TAC:T	donor_loss	1.0000
1:48653335:A:AT	donor_loss	1.0000
1:48653336:C:A	donor_loss	1.0000
1:48653448:ATCC:A	acceptor_gain	1.0000
1:48653449:TCC:T	acceptor_gain	1.0000
1:48653449:TCCC:T	acceptor_loss	1.0000
1:48653450:CC:C	acceptor_gain	1.0000
1:48653450:CCC:C	acceptor_gain	1.0000

AlphaMissense

3345 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:48539726:C:A	G427V	1.000
1:48539726:C:T	G427E	1.000
1:48539727:C:A	G427W	1.000
1:48539727:C:G	G427R	1.000
1:48539727:C:T	G427R	1.000
1:48587063:G:A	S403F	1.000
1:48587063:G:T	S403Y	1.000
1:48587072:A:G	L400P	1.000
1:48587121:G:T	R384S	1.000
1:48587134:T:A	K379N	1.000
1:48587134:T:G	K379N	1.000
1:48590861:A:G	L359P	1.000
1:48590918:C:T	G340D	1.000
1:48590926:G:C	F337L	1.000
1:48590926:G:T	F337L	1.000
1:48590927:A:G	F337S	1.000
1:48590928:A:G	F337L	1.000
1:48590945:G:A	S331F	1.000
1:48590947:G:C	H330Q	1.000
1:48590947:G:T	H330Q	1.000
1:48590949:G:C	H330D	1.000
1:48590955:G:C	H328D	1.000
1:48634575:C:G	R290P	1.000
1:48634576:G:T	R290S	1.000
1:48634590:C:T	G285E	1.000
1:48653337:C:A	R280M	1.000
1:48653337:C:G	R280T	1.000
1:48653342:A:C	N278K	1.000
1:48653342:A:T	N278K	1.000
1:48653346:C:A	G277V	1.000

dbSNP variants (sampled 300 via entrez): RS1000001215 (1:49970500 T>G), RS1000001254 (1:49326070 T>C), RS1000001606 (1:49970943 C>A,T), RS1000002072 (1:49838824 T>C), RS1000003851 (1:49910538 G>A,C), RS1000005295 (1:49314565 C>T), RS1000006768 (1:49795214 G>A,C), RS1000008813 (1:50002651 G>A), RS1000010419 (1:48822979 C>A), RS1000010979 (1:48709132 T>C), RS1000014843 (1:49506470 G>C), RS1000015814 (1:48564155 C>A,T), RS1000015932 (1:49623638 A>T), RS1000020834 (1:48533718 T>C), RS1000026248 (1:48962899 T>C)

Disease associations

OMIM: gene MIM:616476 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): prostate cancer (MONDO:0008315), primary ovarian failure (MONDO:0005387)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST002783_124	Body mass index	2.000000e-08
GCST002783_150	Body mass index	5.000000e-13
GCST002783_203	Body mass index	2.000000e-13
GCST002783_608	Body mass index	3.000000e-07
GCST003792_2	Liver injury in anti-tuberculosis drug treatment	5.000000e-06
GCST004065_3	Waist circumference	3.000000e-07
GCST004065_8	Waist circumference	2.000000e-10
GCST004904_103	Body mass index	2.000000e-15
GCST006268_488	Reaction time	3.000000e-08
GCST006414_103	Atrial fibrillation	4.000000e-09
GCST006628_36	Systolic blood pressure	3.000000e-10
GCST007257_2	Broad depression or schizophrenia	3.000000e-09
GCST008645_2	Alcohol dependence or heroin dependence or methamphetamine dependence	3.000000e-12
GCST009215_1	Postcentral gyrus volume	6.000000e-06
GCST009391_1152	Metabolite levels	9.000000e-08
GCST009391_774	Metabolite levels	6.000000e-06
GCST010988_533	Adult body size	1.000000e-16
GCST011703_33	Smoking initiation	2.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0008393	reaction time measurement
EFO:0006335	systolic blood pressure
EFO:0010459	aminoadipic acid measurement
EFO:0010393	sphingomyelin 18:0 measurement
EFO:0005670	smoking initiation

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523328 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

3 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs319952	Toxicity	3	rifampin	Tuberculosis
rs320003	Toxicity	3	rifampin	Tuberculosis
rs393994	Toxicity	3	rifampin	Tuberculosis

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs319952	AGBL4	3	0.00	1	rifampin
rs393994	AGBL4	3	0.00	1	rifampin
rs320003	AGBL4	3	0.00	1	rifampin
rs191190	AGBL4		0.00	0

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation	2
bisphenol A	affects methylation, increases methylation, affects cotreatment	1
kojic acid	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
abrine	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Arbutin	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Lead	decreases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	decreases methylation	1
Cyclosporine	decreases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4413972	Binding	Inhibition of human CCP6 at 1 nM to 1 mM using tubulin as substrate preincubated for 45 mins measured at 30 sec intervals for 15 mins by UV/vis-spectrophotometry	Synthesis and Structural/Functional Characterization of Selective M14 Metallocarboxypeptidase Inhibitors Based on Phosphinic Pseudopeptide Scaffold: Implications on the Design of Specific Optical Probes. — J Med Chem

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer