GID4
gene geneOn this page
Also known as VID24
Summary
GID4 (GID complex subunit 4 homolog, HGNC:28453) is a protein-coding gene on chromosome 17p11.2, encoding Glucose-induced degradation protein 4 homolog (Q8IVV7). Substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1.
The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17.
Source: NCBI Gene 79018 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 30 total
- Druggable target: yes
- MANE Select transcript:
NM_024052
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28453 |
| Approved symbol | GID4 |
| Name | GID complex subunit 4 homolog |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | VID24 |
| Ensembl gene | ENSG00000141034 |
| Ensembl biotype | protein_coding |
| OMIM | 617699 |
| Entrez | 79018 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000268719, ENST00000376345, ENST00000459843, ENST00000481836, ENST00000579871, ENST00000879496, ENST00000912958
RefSeq mRNA: 2 — MANE Select: NM_024052
NM_001411057, NM_024052
CCDS: CCDS11190, CCDS92267
Canonical transcript exons
ENST00000268719 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000946246 | 18045147 | 18045206 |
| ENSE00000946248 | 18054127 | 18054234 |
| ENSE00001157122 | 18065180 | 18068405 |
| ENSE00001522647 | 18039408 | 18039902 |
| ENSE00002785960 | 18061845 | 18061975 |
| ENSE00002897542 | 18058868 | 18058969 |
Expression profiles
Bgee: expression breadth ubiquitous, 265 present calls, max score 95.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9245 / max 123.1462, expressed in 1795 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159778 | 6.7991 | 1748 |
| 159779 | 4.5838 | 1691 |
| 159780 | 0.5082 | 260 |
| 159777 | 0.0334 | 5 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 95.18 | gold quality |
| right testis | UBERON:0004534 | 95.03 | gold quality |
| sperm | CL:0000019 | 94.96 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.96 | gold quality |
| nipple | UBERON:0002030 | 94.84 | gold quality |
| saphenous vein | UBERON:0007318 | 94.69 | gold quality |
| testis | UBERON:0000473 | 93.34 | gold quality |
| male germ cell | CL:0000015 | 93.06 | gold quality |
| body of tongue | UBERON:0011876 | 92.86 | gold quality |
| penis | UBERON:0000989 | 92.75 | gold quality |
| superior surface of tongue | UBERON:0007371 | 91.24 | gold quality |
| urethra | UBERON:0000057 | 91.14 | gold quality |
| secondary oocyte | CL:0000655 | 90.60 | gold quality |
| cardia of stomach | UBERON:0001162 | 90.35 | gold quality |
| tongue | UBERON:0001723 | 90.34 | gold quality |
| pericardium | UBERON:0002407 | 90.12 | gold quality |
| pons | UBERON:0000988 | 89.93 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 89.70 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 89.70 | gold quality |
| renal medulla | UBERON:0000362 | 89.46 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 89.31 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.29 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 89.12 | gold quality |
| synovial joint | UBERON:0002217 | 88.68 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 88.61 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 88.43 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.33 | gold quality |
| pylorus | UBERON:0001166 | 88.22 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.21 | gold quality |
| amniotic fluid | UBERON:0000173 | 88.14 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
224 targeting GID4, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
Literature-anchored findings (GeneRIF, showing 3)
- crystallographic analysis of human GID4 alone and in complex with various Pro/N-degrons (PMID:29632410)
- Recognition of the gluconeogenic enzyme, Pck1, via the Gid4 E3 ligase: An in silico perspective. (PMID:31883179)
- The hGID[GID4] E3 ubiquitin ligase complex targets ARHGAP11A to regulate cell migration. (PMID:39389782)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | GID4 | ENSDARG00000079482 |
| mus_musculus | Gid4 | ENSMUSG00000018415 |
| rattus_norvegicus | Gid4 | ENSRNOG00000069998 |
Protein
Protein identifiers
Glucose-induced degradation protein 4 homolog — Q8IVV7 (reviewed: Q8IVV7)
Alternative names: Vacuolar import and degradation protein 24 homolog
All UniProt accessions (4): K4DI96, K7ELH7, K7ENE2, Q8IVV7
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition subunit of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Binds proteins and peptides with a Pro/N-degron consisting of an unmodified N-terminal Pro followed by a small residue, and has the highest affinity for the peptide Pro-Gly-Leu-Trp. Binds peptides with an N-terminal sequence of the type Pro-[Ala,Gly]-[Leu,Met,Gln,Ser,Tyr]-[Glu,Gly,His,Ser,Val,Trp,Tyr]. Does not bind peptides with an acetylated N-terminal Pro residue.
Subunit / interactions. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles. Interacts with helicases DDX21 and DDX50.
Domain organisation. The first four residues of target peptides with a free N-terminal Pro (a Pro/N-degron) are bound inside a deep and narrow beta-barrel structure.
Similarity. Belongs to the GID4/VID24 family.
RefSeq proteins (2): NP_001397986, NP_076957* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018618 | GID4/10-like | Family |
Pfam: PF09783
UniProt features (35 total): strand 9, mutagenesis site 6, turn 5, helix 5, site 3, region of interest 2, sequence conflict 2, compositionally biased region 2, chain 1
Structure
Experimental structures (PDB)
31 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6CD9 | X-RAY DIFFRACTION | 1.55 |
| 6CCR | X-RAY DIFFRACTION | 1.6 |
| 6CD8 | X-RAY DIFFRACTION | 1.6 |
| 6CDG | X-RAY DIFFRACTION | 1.6 |
| 6WZZ | X-RAY DIFFRACTION | 1.6 |
| 7U3J | X-RAY DIFFRACTION | 1.64 |
| 6CCU | X-RAY DIFFRACTION | 1.75 |
| 6CDC | X-RAY DIFFRACTION | 1.75 |
| 6WZX | X-RAY DIFFRACTION | 1.75 |
| 7U3H | X-RAY DIFFRACTION | 1.8 |
| 9QDZ | X-RAY DIFFRACTION | 1.8 |
| 7U3E | X-RAY DIFFRACTION | 1.85 |
| 9QZG | X-RAY DIFFRACTION | 1.9 |
| 7SLZ | X-RAY DIFFRACTION | 1.97 |
| 7U3I | X-RAY DIFFRACTION | 1.99 |
| 9QZI | X-RAY DIFFRACTION | 2 |
| 9QDY | X-RAY DIFFRACTION | 2.1 |
| 9QZH | X-RAY DIFFRACTION | 2.19 |
| 7U3K | X-RAY DIFFRACTION | 2.2 |
| 8V1P | X-RAY DIFFRACTION | 2.21 |
| 7U3G | X-RAY DIFFRACTION | 2.24 |
| 9QDX | X-RAY DIFFRACTION | 2.26 |
| 9OK4 | X-RAY DIFFRACTION | 2.28 |
| 7U3L | X-RAY DIFFRACTION | 2.29 |
| 7U3F | X-RAY DIFFRACTION | 2.3 |
| 6CCT | X-RAY DIFFRACTION | 2.4 |
| 8X7G | X-RAY DIFFRACTION | 2.7 |
| 8X7H | X-RAY DIFFRACTION | 2.9 |
| 7Q4Y | X-RAY DIFFRACTION | 3.08 |
| 7Q50 | X-RAY DIFFRACTION | 3.16 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IVV7-F1 | 76.05 | 0.51 |
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 (3): 132 (interaction with the n-terminal pro (pro/n-degron) of proteins that are targeted for degradation); 237 (interaction with the n-terminal pro (pro/n-degron) of proteins that are targeted for degradation); 258 (interaction with the n-terminal pro (pro/n-degron) of proteins that are targeted for degradation)
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 253 | strongly decreased affinity for peptides with a pro/n-degron. |
| 258 | loss of interaction with peptides with a pro/n-degron. |
| 273 | loss of interaction with peptides with a pro/n-degron. |
| 282 | loss of interaction with peptides with a pro/n-degron. |
| 132 | loss of interaction with peptides with a pro/n-degron. |
| 237 | loss of interaction with peptides with a pro/n-degron. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9861718 | Regulation of pyruvate metabolism |
MSigDB gene sets: 186 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, RORA1_01, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, ATGTTAA_MIR302C, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, ATTACAT_MIR3803P, GNF2_CCNA1, TCCAGAT_MIR5165P, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_DENDRITIC_CELL, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, RGAGGAARY_PU1_Q6, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOBP_PROTEIN_CATABOLIC_PROCESS, BOYLAN_MULTIPLE_MYELOMA_C_D_UP
GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (1): ubiquitin protein ligase activity (GO:0061630)
GO Cellular Component (2): ubiquitin ligase complex (GO:0000151), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Pyruvate metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
500 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GID4 | RMND5A | Q9H871 | 942 |
| GID4 | ARMC8 | Q8IUR7 | 941 |
| GID4 | GID8 | Q9NWU2 | 934 |
| GID4 | WDR26 | Q9H7D7 | 898 |
| GID4 | RMND5B | Q96G75 | 840 |
| GID4 | RANBP10 | Q6VN20 | 812 |
| GID4 | MKLN1 | Q9UL63 | 790 |
| GID4 | MAEA | Q7L5Y9 | 787 |
| GID4 | RANBP9 | Q96S59 | 716 |
| GID4 | YPEL5 | P62699 | 689 |
| GID4 | MDH2 | P40926 | 591 |
| GID4 | FBP1 | P09467 | 531 |
| GID4 | UBE2H | P37286 | 470 |
| GID4 | RNF182 | Q8N6D2 | 470 |
| GID4 | PRPSAP2 | O60256 | 417 |
IntAct
128 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BAIAP2 | YWHAZ | psi-mi:“MI:0914”(association) | 0.800 |
| ARMC8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.750 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| RANBP10 | MAEA | psi-mi:“MI:0914”(association) | 0.640 |
| RANBP9 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| MPP2 | LIN7A | psi-mi:“MI:0914”(association) | 0.640 |
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| GID8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.610 |
| INSL6 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| PRG3 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| GPS2 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| PRICKLE3 | SIAH2 | psi-mi:“MI:0914”(association) | 0.530 |
| BMP1 | TLL1 | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| TIGD5 | P4HA2 | psi-mi:“MI:0914”(association) | 0.530 |
| EMILIN3 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (122): GID4 (Affinity Capture-RNA), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS), GID4 (Affinity Capture-MS)
ESM2 similar proteins: A1YFY6, A2T6X9, A7Z026, B2RUJ5, B2RYF1, D4ABL6, M0R7T9, O08609, O09112, O35430, O35431, O35652, O35779, O60347, O75864, O77638, O88751, O88942, O95644, P20749, P81133, P98084, P98201, Q01201, Q02410, Q04863, Q0IHH1, Q0IHY4, Q13202, Q13469, Q14190, Q147X3, Q3TZ87, Q3UR85, Q5RD33, Q61045, Q61079, Q6A039, Q6DN14, Q7Z6J2
Diamond homologs: P38263, P53242, Q10079, Q8IVV7, Q9CPY6, Q9UT04
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 117 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Regulation of pyruvate metabolism | 8 | 53.7× | 4e-10 |
| Mitochondrial translation | 6 | 9.7× | 5e-03 |
| Mitochondrial translation initiation | 6 | 9.0× | 5e-03 |
| Mitochondrial translation elongation | 6 | 9.0× | 5e-03 |
| Mitochondrial ribosome-associated quality control | 6 | 8.7× | 5e-03 |
| Mitochondrial translation termination | 6 | 7.8× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
811 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:18054232:TGGGT:T | donor_loss | 1.0000 |
| 17:18054233:GG:G | donor_gain | 1.0000 |
| 17:18054234:GG:G | donor_gain | 1.0000 |
| 17:18054234:GGTG:G | donor_loss | 1.0000 |
| 17:18054235:G:C | donor_loss | 1.0000 |
| 17:18054235:G:GG | donor_gain | 1.0000 |
| 17:18054236:TGA:T | donor_loss | 1.0000 |
| 17:18054237:GAG:G | donor_loss | 1.0000 |
| 17:18058863:TTCA:T | acceptor_loss | 1.0000 |
| 17:18058864:TCA:T | acceptor_loss | 1.0000 |
| 17:18058866:A:AG | acceptor_gain | 1.0000 |
| 17:18058866:AG:A | acceptor_gain | 1.0000 |
| 17:18058867:G:GG | acceptor_gain | 1.0000 |
| 17:18058867:G:GT | acceptor_loss | 1.0000 |
| 17:18058867:GG:G | acceptor_gain | 1.0000 |
| 17:18058964:TGGA:T | donor_gain | 1.0000 |
| 17:18058965:GGAAG:G | donor_gain | 1.0000 |
| 17:18058966:GAAGG:G | donor_gain | 1.0000 |
| 17:18058970:G:GG | donor_gain | 1.0000 |
| 17:18058970:GTAA:G | donor_loss | 1.0000 |
| 17:18061971:GAATG:G | donor_gain | 1.0000 |
| 17:18065175:TGCA:T | acceptor_loss | 1.0000 |
| 17:18065178:A:AT | acceptor_loss | 1.0000 |
| 17:18054111:T:TA | acceptor_gain | 0.9900 |
| 17:18054112:G:A | acceptor_gain | 0.9900 |
| 17:18054120:A:AG | acceptor_gain | 0.9900 |
| 17:18054125:A:AC | acceptor_loss | 0.9900 |
| 17:18054125:A:AG | acceptor_gain | 0.9900 |
| 17:18054126:G:GG | acceptor_gain | 0.9900 |
| 17:18054126:G:T | acceptor_loss | 0.9900 |
AlphaMissense
1937 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:18039840:T:C | S126P | 1.000 |
| 17:18039846:T:A | F128I | 1.000 |
| 17:18039846:T:C | F128L | 1.000 |
| 17:18039846:T:G | F128V | 1.000 |
| 17:18039847:T:C | F128S | 1.000 |
| 17:18039847:T:G | F128C | 1.000 |
| 17:18039848:C:A | F128L | 1.000 |
| 17:18039848:C:G | F128L | 1.000 |
| 17:18039852:G:A | G130S | 1.000 |
| 17:18039852:G:C | G130R | 1.000 |
| 17:18039852:G:T | G130C | 1.000 |
| 17:18039853:G:A | G130D | 1.000 |
| 17:18039853:G:T | G130V | 1.000 |
| 17:18039859:A:C | Q132P | 1.000 |
| 17:18039860:G:C | Q132H | 1.000 |
| 17:18039860:G:T | Q132H | 1.000 |
| 17:18039864:A:C | S134R | 1.000 |
| 17:18039866:C:A | S134R | 1.000 |
| 17:18039866:C:G | S134R | 1.000 |
| 17:18039871:G:A | G136E | 1.000 |
| 17:18039879:T:C | Y139H | 1.000 |
| 17:18039879:T:G | Y139D | 1.000 |
| 17:18039886:T:A | V141E | 1.000 |
| 17:18045172:T:A | L155H | 1.000 |
| 17:18045172:T:C | L155P | 1.000 |
| 17:18045177:G:A | G157R | 1.000 |
| 17:18045177:G:C | G157R | 1.000 |
| 17:18045177:G:T | G157W | 1.000 |
| 17:18045178:G:A | G157E | 1.000 |
| 17:18045178:G:T | G157V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000106486 (17:18038103 C>T), RS1000205438 (17:18055688 C>G), RS1000216411 (17:18062424 C>T), RS1000242523 (17:18064884 A>C), RS1000373605 (17:18051317 C>T), RS1000762022 (17:18054765 C>G), RS1000811519 (17:18047816 T>G), RS1000828145 (17:18055952 T>C), RS1000874858 (17:18046672 A>G), RS1000902940 (17:18066725 G>A), RS1000946756 (17:18054525 A>C), RS1000950764 (17:18053499 A>G), RS1001096676 (17:18039479 G>A,T), RS1001215448 (17:18038977 G>T), RS1001319405 (17:18048684 C>G,T)
Disease associations
OMIM: gene MIM:617699 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_86 | Schizophrenia | 2.000000e-08 |
| GCST004771_10 | TB-LM or TBLH-BMD (pleiotropy) | 1.000000e-10 |
| GCST004946_149 | Schizophrenia | 7.000000e-10 |
| GCST006803_40 | Schizophrenia | 3.000000e-08 |
| GCST007201_229 | Schizophrenia | 8.000000e-09 |
| GCST007201_252 | Schizophrenia | 9.000000e-10 |
| GCST009600_100 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 2.000000e-08 |
| GCST011365_16 | Myocardial infarction | 5.000000e-09 |
| GCST012228_523 | Waist-hip index | 4.000000e-08 |
| GCST012230_114 | Waist-to-hip ratio adjusted for BMI | 3.000000e-08 |
| GCST90020025_1402 | Waist-to-hip ratio adjusted for BMI | 7.000000e-15 |
| GCST90020027_29 | Waist-hip index | 6.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004995 | lean body mass |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (4): CHEMBL5169174 (SINGLE PROTEIN), CHEMBL6066842 (PROTEIN-PROTEIN INTERACTION), CHEMBL6066845 (PROTEIN-PROTEIN INTERACTION), CHEMBL6193836 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
16 potent at pChembl≥5 of 26 total, top 16 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.77 | Kd | 17 | nM | CHEMBL5189044 |
| 7.10 | Kd | 80 | nM | CHEMBL5177469 |
| 7.09 | Kd | 81 | nM | CHEMBL5177469 |
| 6.52 | Kd | 300 | nM | CHEMBL5393907 |
| 6.30 | Kd | 500 | nM | CHEMBL5411984 |
| 5.72 | Kd | 1900 | nM | CHEMBL5195622 |
| 5.64 | Kd | 2300 | nM | CHEMBL5197897 |
| 5.60 | IC50 | 2500 | nM | CHEMBL5411984 |
| 5.57 | Kd | 2700 | nM | CHEMBL5435433 |
| 5.47 | Kd | 3400 | nM | CHEMBL5405098 |
| 5.39 | IC50 | 4100 | nM | CHEMBL5177469 |
| 5.33 | IC50 | 4700 | nM | CHEMBL5177515 |
| 5.32 | IC50 | 4800 | nM | CHEMBL5191076 |
| 5.27 | IC50 | 5400 | nM | CHEMBL5208789 |
| 5.22 | Kd | 6050 | nM | CHEMBL5579751 |
| 5.05 | Kd | 9000 | nM | CHEMBL5414824 |
PubChem BioAssay actives
16 with measured affinity, of 155 total; 13 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 1-phenyl-1,2,3,4-tetrahydroisoquinolin-5-amine | 1851983: Binding affinity to GID4 (124 to 289) (unknown origin) assessed as dissociation constant measured by isothermal titration calorimetry assay | kd | 0.0170 | uM |
| N-[4-(1H-benzimidazol-2-yl)cyclohexyl]-2-(1H-indol-2-ylmethylamino)acetamide | 1851986: Binding affinity to GID4 (unknown origin) assessed as dissociation constant by surface plasmon resonance assay | kd | 0.0800 | uM |
| N-[4-[6-[2-[2-[2-(2-aminoethoxy)ethoxy]ethoxy]ethoxy]-1H-benzimidazol-2-yl]cyclohexyl]-2-[(4-methoxyphenyl)methylamino]acetamide | 1985174: Binding affinity to recombinant GID4 (unknown origin) assessed as dissociation constant by surface plasmon resonance assay | kd | 0.3000 | uM |
| N-[4-(1H-benzimidazol-2-yl)cyclohexyl]-2-(benzylamino)acetamide | 1985174: Binding affinity to recombinant GID4 (unknown origin) assessed as dissociation constant by surface plasmon resonance assay | kd | 0.5000 | uM |
| (2R)-2-[[(2S)-2-[[(2S)-6-amino-2-[[(2S)-3-(1H-indol-3-yl)-2-[[(2S)-4-methyl-2-[[2-[[(2S)-pyrrolidine-2-carbonyl]amino]acetyl]amino]pentanoyl]amino]propanoyl]amino]hexanoyl]amino]-3-hydroxypropanoyl]amino]-3-sulfanylpropanoic acid | 1851980: Binding affinity to GID4 (unknown origin) assessed as dissociation constant | kd | 1.9000 | uM |
| (2S)-3-(1H-indol-3-yl)-2-[[(2S)-4-methyl-2-[[2-[[(2S)-pyrrolidine-2-carbonyl]amino]acetyl]amino]pentanoyl]amino]propanoic acid | 1985174: Binding affinity to recombinant GID4 (unknown origin) assessed as dissociation constant by surface plasmon resonance assay | kd | 2.3000 | uM |
| N-benzyl-2-[[4-[(3-chlorophenyl)methoxy]phenyl]methylamino]acetamide | 1985174: Binding affinity to recombinant GID4 (unknown origin) assessed as dissociation constant by surface plasmon resonance assay | kd | 2.7000 | uM |
| N-[(4-methoxyphenyl)methyl]-2-[(4-methoxyphenyl)methylamino]acetamide | 1985174: Binding affinity to recombinant GID4 (unknown origin) assessed as dissociation constant by surface plasmon resonance assay | kd | 3.4000 | uM |
| (2R)-2-[[2-(butylamino)acetyl]amino]-3-(4-tert-butylphenyl)-N-[(2S)-3-(3-methoxyphenyl)-1-(methylamino)-1-oxopropan-2-yl]propanamide | 1851982: Inhibition of GID4 (124 to 289) (unknown origin) expressed in Escherichia coli BL21(DE3) using PGLWKS-FITC peptide by competitive-fluorescence polarization binding assay | ic50 | 4.7000 | uM |
| (E,2R)-2-[[2-(benzylamino)acetyl]amino]-N-[(2S)-1-(methylamino)-3-(4-methylphenyl)-1-oxopropan-2-yl]-5-phenylpent-4-enamide | 1851982: Inhibition of GID4 (124 to 289) (unknown origin) expressed in Escherichia coli BL21(DE3) using PGLWKS-FITC peptide by competitive-fluorescence polarization binding assay | ic50 | 4.8000 | uM |
| (2S)-2-[[(2S)-2-[[2-[(2,4-dimethoxyphenyl)methylamino]acetyl]amino]-2-thiophen-2-ylacetyl]amino]-N-methyl-4-phenylbutanamide | 1851982: Inhibition of GID4 (124 to 289) (unknown origin) expressed in Escherichia coli BL21(DE3) using PGLWKS-FITC peptide by competitive-fluorescence polarization binding assay | ic50 | 5.4000 | uM |
| (2S)-N-[2-[2-[2-[3-[4-[4-[[5-chloro-4-(2-dimethylphosphorylanilino)pyrimidin-2-yl]amino]-3-methoxyphenyl]piperazin-1-yl]-3-oxopropoxy]ethoxy]ethoxy]ethyl]pyrrolidine-2-carboxamide | 2111427: Binding affinity to His6-tagged GID4 (114 to 300 residues)(unknown origin) expressed in Escherichia coli Rosetta (DE3) assessed as dissociation constant by ITC analysis | kd | 6.0500 | uM |
| N-benzyl-2-(benzylamino)acetamide | 1985174: Binding affinity to recombinant GID4 (unknown origin) assessed as dissociation constant by surface plasmon resonance assay | kd | 9.0000 | uM |
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, increases expression, affects expression, decreases expression | 3 |
| Tobacco Smoke Pollution | increases methylation, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Niclosamide | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
ChEMBL screening assays
48 unique, capped per target: 48 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5106702 | Binding | Binding affinity to GID4 (unknown origin) assessed as dissociation constant | Discovery and Structural Characterization of Small Molecule Binders of the Human CTLH E3 Ligase Subunit GID4. — J Med Chem |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SQ01 | HAP1 GID4 (-) 1 | Cancer cell line | Male |
| CVCL_XP09 | HAP1 GID4 (-) 2 | Cancer cell line | Male |
| CVCL_XP10 | HAP1 GID4 (-) 3 | Cancer cell line | Male |
| CVCL_XP11 | HAP1 GID4 (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.