AGBL2
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Also known as FLJ23598CCP2
Summary
AGBL2 (AGBL carboxypeptidase 2, HGNC:26296) is a protein-coding gene on chromosome 11p11.2, encoding Cytosolic carboxypeptidase 2 (Q5U5Z8). Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins.
Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in protein side chain deglutamylation. Located in centriole and ciliary basal body.
Source: NCBI Gene 79841 — RefSeq curated summary.
At a glance
- Gene–disease (curated): epilepsy (Limited, GenCC)
- GWAS associations: 26
- Clinical variants (ClinVar): 126 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_024783
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26296 |
| Approved symbol | AGBL2 |
| Name | AGBL carboxypeptidase 2 |
| Location | 11p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23598, CCP2 |
| Ensembl gene | ENSG00000165923 |
| Ensembl biotype | protein_coding |
| OMIM | 617345 |
| Entrez | 79841 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000425363, ENST00000525123, ENST00000526331, ENST00000528244, ENST00000528609, ENST00000528632, ENST00000529154, ENST00000529712, ENST00000530577, ENST00000530969, ENST00000531835, ENST00000532595, ENST00000532835
RefSeq mRNA: 1 — MANE Select: NM_024783
NM_024783
CCDS: CCDS7944
Canonical transcript exons
ENST00000525123 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001339120 | 47705521 | 47705634 |
| ENSE00002186014 | 47715175 | 47715369 |
| ENSE00003466841 | 47704543 | 47704728 |
| ENSE00003473980 | 47685893 | 47686049 |
| ENSE00003504527 | 47692103 | 47692256 |
| ENSE00003510515 | 47710377 | 47710511 |
| ENSE00003512747 | 47714618 | 47714750 |
| ENSE00003531171 | 47681969 | 47682095 |
| ENSE00003549893 | 47699446 | 47699553 |
| ENSE00003618609 | 47690076 | 47690858 |
| ENSE00003629282 | 47659591 | 47660346 |
| ENSE00003629344 | 47667571 | 47667696 |
| ENSE00003652539 | 47679973 | 47680073 |
| ENSE00003660188 | 47668841 | 47668907 |
| ENSE00003686912 | 47677271 | 47677401 |
| ENSE00003692199 | 47666956 | 47667063 |
| ENSE00003693505 | 47663026 | 47663112 |
| ENSE00003787971 | 47714284 | 47714347 |
| ENSE00003790182 | 47705864 | 47705917 |
Expression profiles
Bgee: expression breadth ubiquitous, 133 present calls, max score 98.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.5442 / max 70.3693, expressed in 996 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119665 | 2.5442 | 996 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.82 | gold quality |
| left testis | UBERON:0004533 | 92.23 | gold quality |
| right testis | UBERON:0004534 | 91.85 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 91.48 | gold quality |
| testis | UBERON:0000473 | 91.33 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.74 | gold quality |
| fallopian tube | UBERON:0003889 | 83.19 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.30 | gold quality |
| right adrenal gland | UBERON:0001233 | 76.48 | gold quality |
| pituitary gland | UBERON:0000007 | 76.35 | gold quality |
| liver | UBERON:0002107 | 76.12 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 75.54 | gold quality |
| adenohypophysis | UBERON:0002196 | 75.50 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 75.19 | gold quality |
| cerebellar cortex | UBERON:0002129 | 75.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 74.99 | gold quality |
| cerebellum | UBERON:0002037 | 74.95 | gold quality |
| endometrium | UBERON:0001295 | 74.82 | gold quality |
| cortex of kidney | UBERON:0001225 | 74.79 | gold quality |
| metanephros cortex | UBERON:0010533 | 74.47 | gold quality |
| adrenal tissue | UBERON:0018303 | 74.39 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 74.31 | gold quality |
| left adrenal gland | UBERON:0001234 | 73.87 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 73.30 | gold quality |
| left uterine tube | UBERON:0001303 | 73.13 | gold quality |
| granulocyte | CL:0000094 | 72.86 | gold quality |
| left ovary | UBERON:0002119 | 72.84 | gold quality |
| right lung | UBERON:0002167 | 72.83 | gold quality |
| adrenal gland | UBERON:0002369 | 72.67 | gold quality |
| duodenum | UBERON:0002114 | 72.17 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting AGBL2, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
Literature-anchored findings (GeneRIF, showing 5)
- RARRES1, its interacting partners AGBL2, Eg5/KIF11, another EEY-bearing protein (EB1), and the microtubule tyrosination cycle are important in tumorigenesis. (PMID:21303978)
- High AGBL2 expression is associated with breast cancer. (PMID:24884516)
- Suggest role for AGBL2 in cell proliferation and chemotherapy resistance in gastric cancer. (PMID:25916089)
- Findings suggest that ATP/GTP binding protein like 2 (AGBL2) plays a critical oncogenic role in the pathogenesis of hepatocellular carcinoma (HCC) through modulation on immunity-related GTPase family, M protein (IRGM)-regulated autophagy and aurora kinase A (Aurora A) activity. (PMID:29126912)
- Expression of RARRES1 and AGBL2 and progression of conventional renal cell carcinoma. (PMID:32307444)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | agbl2 | ENSDARG00000079983 |
| mus_musculus | Agbl2 | ENSMUSG00000040812 |
| rattus_norvegicus | Agbl2 | ENSRNOG00000008467 |
Paralogs (5): AGBL5 (ENSG00000084693), AGTPBP1 (ENSG00000135049), AGBL3 (ENSG00000146856), AGBL4 (ENSG00000186094), AGBL1 (ENSG00000273540)
Protein
Protein identifiers
Cytosolic carboxypeptidase 2 — Q5U5Z8 (reviewed: Q5U5Z8)
Alternative names: ATP/GTP-binding protein-like 2, Protein deglutamylase CCP2
All UniProt accessions (9): A0A140VKH9, E9PI49, E9PJH3, E9PR59, E9PRJ1, E9PS54, F6U0I4, J9JIH1, Q5U5Z8
UniProt curated annotations — full annotation on UniProt →
Function. Metallocarboxypeptidase that mediates 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.
Subunit / interactions. Interacts with RARRES1, KIF11 AND MAPRE1.
Subcellular location. Cytoplasm. Cytosol. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body.
Activity regulation. Inhibited by RARRES1.
Cofactor. Binds 1 zinc ion per subunit.
Similarity. Belongs to the peptidase M14 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5U5Z8-1 | 1 | yes |
| Q5U5Z8-2 | 2 | |
| Q5U5Z8-3 | 3 |
RefSeq proteins (1): NP_079059* (*=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), 1 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)
UniProt features (17 total): sequence variant 5, binding site 3, splice variant 2, region of interest 2, compositionally biased region 2, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5U5Z8-F1 | 72.22 | 0.49 |
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): 630 (proton donor/acceptor)
Ligand- & substrate-binding residues (3): 462; 465; 558
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: 69 (showing top):
GOMF_METALLOPEPTIDASE_ACTIVITY, TGACCTY_ERR1_Q2, GOCC_MICROTUBULE_ORGANIZING_CENTER, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, OCT1_06, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, PTF1BETA_Q6, GOCC_CENTRIOLE, GOBP_PROTEOLYSIS, RFX1_01, IRF2_01, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOMF_CARBOXYPEPTIDASE_ACTIVITY
GO Biological Process (2): proteolysis (GO:0006508), protein side chain deglutamylation (GO:0035610)
GO Molecular Function (9): metallocarboxypeptidase activity (GO:0004181), zinc ion binding (GO:0008270), tubulin binding (GO:0015631), carboxypeptidase activity (GO:0004180), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (7): cytoplasm (GO:0005737), centriole (GO:0005814), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), 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 |
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| protein metabolic process | 1 |
| protein deglutamylation | 1 |
| carboxypeptidase activity | 1 |
| metalloexopeptidase activity | 1 |
| transition metal ion binding | 1 |
| cytoskeletal protein binding | 1 |
| exopeptidase activity | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cytoskeleton | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
498 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AGBL2 | PRTN3 | P15637 | 777 |
| AGBL2 | RARRES1 | P49788 | 697 |
| AGBL2 | MASP2 | O00187 | 645 |
| AGBL2 | HLA-DRB1 | P01911 | 622 |
| AGBL2 | CRP | P02741 | 597 |
| AGBL2 | FLG | P20930 | 594 |
| AGBL2 | FLG2 | Q5D862 | 594 |
| AGBL2 | C4A | P01028 | 594 |
| AGBL2 | C4A | P01028 | 557 |
| AGBL2 | LXN | Q9BS40 | 546 |
| AGBL2 | C1R | P00736 | 536 |
| AGBL2 | ENO1 | P06733 | 527 |
| AGBL2 | C1S | P09871 | 519 |
| AGBL2 | FNBP4 | Q8N3X1 | 516 |
| AGBL2 | CFHR3 | Q02985 | 495 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NUDT5 | FLNB | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (13): TPM2 (Affinity Capture-MS), AGBL2 (Two-hybrid), AGBL2 (Two-hybrid), AGBL2 (Affinity Capture-MS), AGBL2 (Cross-Linking-MS (XL-MS)), AGBL2 (Cross-Linking-MS (XL-MS)), AGBL2 (Affinity Capture-MS), EEA1 (Cross-Linking-MS (XL-MS)), AGBL2 (Protein-peptide), AGBL2 (Proximity Label-MS), AGBL2 (Affinity Capture-Western), AGBL2 (Affinity Capture-Western), AGBL2 (Affinity Capture-Western)
ESM2 similar proteins: A0JM98, A1L1H3, A2A5N8, A4IGY9, A7E2Z2, D3ZWK4, E1B9D8, E1C2V1, O70445, P70351, Q08BS4, Q08EN7, Q0P4M4, Q28D84, Q4V863, Q5RDS6, Q5T890, Q5TKR9, Q5U5Z8, Q5ZIX8, Q61188, Q6DJS0, Q6GQJ2, Q6IE81, Q6IE82, Q6IVY4, Q6YI93, Q6ZPI0, Q7Z2W4, Q7ZVP1, Q803A0, Q80Z32, Q86VD1, Q8BMD7, Q8BRB7, Q8BZ21, Q8C4P0, Q8CDK2, Q8CDP0, Q8N8K9
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
126 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 92 |
| Likely benign | 9 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3392517 | Single allele | Pathogenic |
SpliceAI
3170 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:47667569:A:AC | donor_gain | 1.0000 |
| 11:47667570:C:CC | donor_gain | 1.0000 |
| 11:47667703:C:CT | acceptor_gain | 1.0000 |
| 11:47668915:C:CT | acceptor_gain | 1.0000 |
| 11:47668915:C:T | acceptor_gain | 1.0000 |
| 11:47668916:A:T | acceptor_gain | 1.0000 |
| 11:47677265:TGTTA:T | donor_loss | 1.0000 |
| 11:47677266:GTTAC:G | donor_loss | 1.0000 |
| 11:47677267:TTACC:T | donor_loss | 1.0000 |
| 11:47677268:TAC:T | donor_loss | 1.0000 |
| 11:47677269:A:T | donor_loss | 1.0000 |
| 11:47677270:C:A | donor_loss | 1.0000 |
| 11:47677309:T:TA | donor_gain | 1.0000 |
| 11:47677397:GTGAA:G | acceptor_gain | 1.0000 |
| 11:47677398:TGAA:T | acceptor_gain | 1.0000 |
| 11:47677399:GAA:G | acceptor_gain | 1.0000 |
| 11:47677401:AC:A | acceptor_loss | 1.0000 |
| 11:47677402:C:CC | acceptor_gain | 1.0000 |
| 11:47677404:A:C | acceptor_gain | 1.0000 |
| 11:47677410:G:GC | acceptor_gain | 1.0000 |
| 11:47679967:TTTTA:T | donor_loss | 1.0000 |
| 11:47679968:TTTA:T | donor_loss | 1.0000 |
| 11:47679969:TTAC:T | donor_loss | 1.0000 |
| 11:47679970:TA:T | donor_loss | 1.0000 |
| 11:47679972:C:CT | donor_loss | 1.0000 |
| 11:47680070:TTACC:T | acceptor_loss | 1.0000 |
| 11:47680071:TACCT:T | acceptor_loss | 1.0000 |
| 11:47680072:ACC:A | acceptor_loss | 1.0000 |
| 11:47680073:CCT:C | acceptor_loss | 1.0000 |
| 11:47680075:T:A | acceptor_loss | 1.0000 |
AlphaMissense
5977 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:47690650:A:G | W353R | 0.999 |
| 11:47690650:A:T | W353R | 0.999 |
| 11:47690748:A:G | F320S | 0.999 |
| 11:47690797:A:G | W304R | 0.999 |
| 11:47690797:A:T | W304R | 0.999 |
| 11:47690141:C:A | R522S | 0.998 |
| 11:47690141:C:G | R522S | 0.998 |
| 11:47690142:C:A | R522M | 0.998 |
| 11:47690142:C:G | R522T | 0.998 |
| 11:47690181:C:A | G509V | 0.998 |
| 11:47690182:C:A | G509W | 0.998 |
| 11:47690423:G:C | S428R | 0.998 |
| 11:47690423:G:T | S428R | 0.998 |
| 11:47690425:T:G | S428R | 0.998 |
| 11:47690572:A:G | W379R | 0.998 |
| 11:47690572:A:T | W379R | 0.998 |
| 11:47690838:A:G | L290P | 0.998 |
| 11:47685980:G:C | F567L | 0.997 |
| 11:47685980:G:T | F567L | 0.997 |
| 11:47685982:A:G | F567L | 0.997 |
| 11:47690151:T:G | D519A | 0.997 |
| 11:47690177:A:C | N510K | 0.997 |
| 11:47690177:A:T | N510K | 0.997 |
| 11:47690181:C:T | G509E | 0.997 |
| 11:47690323:G:C | H462D | 0.997 |
| 11:47690328:C:A | R460I | 0.997 |
| 11:47690781:A:T | V309D | 0.997 |
| 11:47692121:A:G | L277P | 0.997 |
| 11:47682054:T:A | K610N | 0.996 |
| 11:47682054:T:G | K610N | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000053744 (11:47661356 A>C), RS1000089109 (11:47702685 C>T), RS1000116708 (11:47694329 G>T), RS1000183748 (11:47681807 A>C), RS1000209245 (11:47665061 T>C), RS1000217006 (11:47709665 G>A), RS1000220899 (11:47661882 G>T), RS1000245055 (11:47659439 A>G), RS1000293110 (11:47661628 T>C), RS1000352185 (11:47666628 A>G), RS1000373563 (11:47715878 A>G), RS1000377301 (11:47669109 C>T), RS1000425828 (11:47715611 G>C), RS1000464813 (11:47681881 C>G,T), RS1000628437 (11:47696095 G>A)
Disease associations
OMIM: gene MIM:617345 | disease phenotypes: MIM:601495
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| epilepsy | Limited | Autosomal recessive |
Mondo (2): agammaglobulinemia (MONDO:0015977), epilepsy (MONDO:0005027)
Orphanet (1): Agammaglobulinemia (Orphanet:183669)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002580_1 | Intraocular pressure | 1.000000e-11 |
| GCST004627_15 | Lymphocyte count | 8.000000e-18 |
| GCST005232_56 | Neuroticism | 1.000000e-16 |
| GCST005531_2 | Multiple sclerosis | 1.000000e-09 |
| GCST005905_14 | Global electrical heterogeneity phenotypes | 6.000000e-09 |
| GCST006923_11 | Loneliness | 1.000000e-07 |
| GCST006924_13 | Loneliness (MTAG) | 1.000000e-08 |
| GCST007094_204 | Diastolic blood pressure | 2.000000e-10 |
| GCST007095_35 | Systolic blood pressure | 9.000000e-07 |
| GCST007096_137 | Pulse pressure | 3.000000e-10 |
| GCST007099_142 | Systolic blood pressure | 4.000000e-16 |
| GCST007559_27 | Sleep duration (short sleep) | 4.000000e-08 |
| GCST007709_285 | General factor of neuroticism | 1.000000e-10 |
| GCST007825_4 | Alzheimer’s disease or fasting glucose levels (pleiotropy) | 3.000000e-16 |
| GCST007923_30 | Medication use (drugs used in diabetes) | 4.000000e-08 |
| GCST008129_74 | Body mass index | 1.000000e-31 |
| GCST008522_33 | Bitter alcoholic beverage consumption | 5.000000e-14 |
| GCST008876_19 | Non-lobar intracerebral hemorrhage (MTAG) | 8.000000e-07 |
| GCST009217_5 | Corpus callosum Mid-posterior volume | 7.000000e-06 |
| GCST010002_238 | Refractive error | 2.000000e-14 |
| GCST010136_2 | Fruit consumption | 5.000000e-09 |
| GCST010703_36 | Brain morphology (MOSTest) | 8.000000e-09 |
| GCST011439_14 | Glaucoma (primary open-angle) | 3.000000e-08 |
| GCST90002401_180 | Platelet distribution width | 2.000000e-18 |
| GCST90011768_22 | Glaucoma (primary open-angle) | 9.000000e-09 |
| GCST90013405_93 | Liver enzyme levels (alanine transaminase) | 2.000000e-11 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0007660 | neuroticism measurement |
| EFO:0004327 | electrocardiography |
| EFO:0007865 | loneliness measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009924 | Drugs used in diabetes use measurement |
| EFO:0004340 | body mass index |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
| EFO:0010178 | non-lobar intracerebral hemorrhage |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007984 | platelet component distribution width |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000361 | Agammaglobulinemia | C15.378.147.142; C15.604.515.032; C20.673.088 |
| D004827 | Epilepsy | C10.228.140.490 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3886062 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
5 potent at pChembl≥5 of 5 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.31 | Ki | 4.89 | nM | CHEMBL3917902 |
| 7.06 | Ki | 87 | nM | CHEMBL4448221 |
| 6.76 | Ki | 173 | nM | CHEMBL4546565 |
| 6.37 | Ki | 428 | nM | CHEMBL4589358 |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 6 |
| trichostatin A | decreases expression, affects cotreatment | 3 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Particulate Matter | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3882385 | Binding | Inhibition of recombinant N-terminal His-tagged AGBL2 (unknown origin) assessed as tyrosine release using tyrosinated C-terminal tail of tubulin as substrate in presence of hydroxycoumarin preincubated for 30 to 60 mins followed by substrat | Small molecule inhibitors of AGBL2 |
Clinical trials (associated diseases)
314 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00004637 | PHASE4 | COMPLETED | Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy |
| NCT00043914 | PHASE4 | COMPLETED | Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy |
| NCT00132223 | PHASE4 | UNKNOWN | Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients |
| NCT00133081 | PHASE4 | UNKNOWN | Study to Improve the Treatment of Epilepsy (SITE) |
| NCT00137709 | PHASE4 | UNKNOWN | Hormone Profiles in Adults With Newly Diagnosed Epilepsy |
| NCT00154076 | PHASE4 | COMPLETED | A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies |
| NCT00165828 | PHASE4 | TERMINATED | Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization |
| NCT00181116 | PHASE4 | COMPLETED | Levetiracetam for Benign Rolandic Epilepsy |
| NCT00207935 | PHASE4 | COMPLETED | Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population |
| NCT00215592 | PHASE4 | COMPLETED | Open Label, Zonegran (Zonisamide) In Partial Onset Seizures |
| NCT00266604 | PHASE4 | COMPLETED | A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy |
| NCT00288639 | PHASE4 | COMPLETED | Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). |
| NCT00312676 | PHASE4 | UNKNOWN | Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote |
| NCT00323947 | PHASE4 | COMPLETED | Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy |
| NCT00385411 | PHASE4 | COMPLETED | Study of Valproate in Young Patients Suffering From Epilepsy |
| NCT00522418 | PHASE4 | TERMINATED | Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients |
| NCT00537940 | PHASE4 | COMPLETED | Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures |
| NCT00552526 | PHASE4 | UNKNOWN | Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy |
| NCT00564915 | PHASE4 | COMPLETED | RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy |
| NCT00571155 | PHASE4 | COMPLETED | Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery |
| NCT00572195 | PHASE4 | COMPLETED | RNS® System LTT Study |
| NCT00610532 | PHASE4 | TERMINATED | Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy |
| NCT00630357 | PHASE4 | COMPLETED | Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy |
| NCT00630630 | PHASE4 | COMPLETED | Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy |
| NCT00630968 | PHASE4 | COMPLETED | S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy |
| NCT00631150 | PHASE4 | COMPLETED | A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy |
| NCT00659958 | PHASE4 | COMPLETED | ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs |
| NCT00713622 | PHASE4 | COMPLETED | Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate |
| NCT00807989 | PHASE4 | COMPLETED | The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy |
| NCT00832884 | PHASE4 | COMPLETED | The Safety of Intravenous Lacosamide |
| NCT00869622 | PHASE4 | COMPLETED | Antiepileptic Drugs and Osteoporotic Prevention Trial |
| NCT00896987 | PHASE4 | COMPLETED | Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies |
| NCT00952081 | PHASE4 | COMPLETED | A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients |
| NCT01118455 | PHASE4 | TERMINATED | Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures |
| NCT01127165 | PHASE4 | COMPLETED | Low and High Dose Zonisamide in Children as Monotherapy |
| NCT01127256 | PHASE4 | COMPLETED | Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation |
| NCT01140867 | PHASE4 | COMPLETED | Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy |
| NCT01175954 | PHASE4 | COMPLETED | Cognitive and Behavioral Effects of Lacosamide |
| NCT01229735 | PHASE4 | COMPLETED | Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures |
| NCT01244724 | PHASE4 | TERMINATED | Lexapro for Major Depression in Patients With Epilepsy |
Related Atlas pages
- Associated diseases: epilepsy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): agammaglobulinemia, epilepsy, open-angle glaucoma