RABGGTA
gene geneOn this page
Also known as PTAR3
Summary
RABGGTA (Rab geranylgeranyltransferase subunit alpha, HGNC:9795) is a protein-coding gene on chromosome 14q12, encoding Geranylgeranyl transferase type-2 subunit alpha (Q92696). Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A. It is a common-essential gene (DepMap: required in 99.5% of cancer cell lines).
Predicted to enable small GTPase binding activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and protein geranylgeranylation. Predicted to be located in cytosol and plasma membrane. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytoplasm.
Source: NCBI Gene 5875 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 107 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.5% of screened cell lines (common-essential)
- MANE Select transcript:
NM_182836
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9795 |
| Approved symbol | RABGGTA |
| Name | Rab geranylgeranyltransferase subunit alpha |
| Location | 14q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PTAR3 |
| Ensembl gene | ENSG00000100949 |
| Ensembl biotype | protein_coding |
| OMIM | 601905 |
| Entrez | 5875 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 8 protein_coding, 8 retained_intron, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay
ENST00000216840, ENST00000399409, ENST00000543002, ENST00000558376, ENST00000558534, ENST00000558649, ENST00000558936, ENST00000558954, ENST00000559551, ENST00000559586, ENST00000559850, ENST00000559974, ENST00000560127, ENST00000560163, ENST00000560207, ENST00000560243, ENST00000560521, ENST00000560777, ENST00000560871, ENST00000560998, ENST00000561055, ENST00000876595, ENST00000876596, ENST00000876597, ENST00000947203
RefSeq mRNA: 2 — MANE Select: NM_182836
NM_004581, NM_182836
CCDS: CCDS45088
Canonical transcript exons
ENST00000216840 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001348476 | 24271487 | 24271597 |
| ENSE00003476505 | 24268110 | 24268198 |
| ENSE00003477659 | 24266776 | 24266889 |
| ENSE00003482140 | 24269491 | 24269694 |
| ENSE00003485952 | 24271113 | 24271169 |
| ENSE00003493804 | 24267870 | 24267958 |
| ENSE00003500138 | 24266430 | 24266517 |
| ENSE00003541289 | 24270334 | 24270458 |
| ENSE00003562457 | 24267660 | 24267776 |
| ENSE00003565349 | 24268514 | 24268619 |
| ENSE00003566503 | 24268911 | 24268993 |
| ENSE00003584936 | 24265538 | 24265763 |
| ENSE00003590686 | 24269080 | 24269163 |
| ENSE00003615491 | 24270837 | 24270947 |
| ENSE00003630985 | 24269953 | 24270140 |
| ENSE00003648507 | 24268725 | 24268826 |
| ENSE00003692408 | 24268369 | 24268420 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 98.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.4898 / max 85.0012, expressed in 1807 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 142579 | 14.5778 | 1800 |
| 142578 | 0.9120 | 526 |
Top tissues by expression
138 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 98.82 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.59 | gold quality |
| granulocyte | CL:0000094 | 94.30 | gold quality |
| spleen | UBERON:0002106 | 94.14 | gold quality |
| right uterine tube | UBERON:0001302 | 93.70 | gold quality |
| pituitary gland | UBERON:0000007 | 93.50 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.42 | gold quality |
| vagina | UBERON:0000996 | 93.36 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.26 | gold quality |
| apex of heart | UBERON:0002098 | 93.19 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.15 | gold quality |
| esophagus | UBERON:0001043 | 93.07 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.64 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.61 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.59 | gold quality |
| cerebellum | UBERON:0002037 | 92.58 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.53 | gold quality |
| skin of leg | UBERON:0001511 | 92.46 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.40 | gold quality |
| primary visual cortex | UBERON:0002436 | 92.35 | gold quality |
| zone of skin | UBERON:0000014 | 92.29 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.28 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.21 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.20 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.12 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.03 | gold quality |
| tibial nerve | UBERON:0001323 | 92.00 | gold quality |
| ectocervix | UBERON:0012249 | 91.99 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.90 | gold quality |
| body of pancreas | UBERON:0001150 | 91.89 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.46 |
| E-MTAB-6386 | no | 212.18 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.5% of screened cell lines, common-essential.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rabggta | ENSDARG00000061024 |
| mus_musculus | Rabggta | ENSMUSG00000040472 |
| rattus_norvegicus | Rabggta | ENSRNOG00000030483 |
| drosophila_melanogaster | RabGGTa | FBGN0037293 |
| caenorhabditis_elegans | WBGENE00019778 |
Paralogs (2): FNTA (ENSG00000168522), PTAR1 (ENSG00000188647)
Protein
Protein identifiers
Geranylgeranyl transferase type-2 subunit alpha — Q92696 (reviewed: Q92696)
Alternative names: Geranylgeranyl transferase type II subunit alpha, Rab geranyl-geranyltransferase subunit alpha, Rab geranylgeranyltransferase subunit alpha
All UniProt accessions (6): Q92696, H0YKP6, H0YKZ8, H0YLG7, H0YLH3, H0YMG5
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A.
Subunit / interactions. Heterotrimer composed of RABGGTA, RABGGTB and CHM; within this trimer, RABGGTA and RABGGTB form the catalytic component B, while CHM (component A) mediates peptide substrate binding. The Rab GGTase dimer (RGGT) interacts with CHM (component A) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp. Interacts with non-phosphorylated form of RAB8A; phosphorylation of RAB8A at ‘Thr-72’ disrupts this interaction.
Activity regulation. The enzymatic reaction requires the aid of a Rab escort protein (also called component A), such as CHM.
Similarity. Belongs to the protein prenyltransferase subunit alpha family.
RefSeq proteins (2): NP_004572, NP_878256* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR002088 | Prenyl_trans_a | Repeat |
| IPR009087 | RabGGT_asu_insert-domain | Domain |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036254 | RabGGT_asu_insert-dom_sf | Homologous_superfamily |
Pfam: PF00560, PF01239, PF07711
Catalyzed reactions (Rhea), 1 shown:
- geranylgeranyl diphosphate + L-cysteinyl-[protein] = S-geranylgeranyl-L-cysteinyl-[protein] + diphosphate (RHEA:21240)
UniProt features (14 total): repeat 11, chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92696-F1 | 93.81 | 0.85 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 98
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6803205 | TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain |
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 158 (showing top):
LFA1_Q6, PID_PRL_SIGNALING_EVENTS_PATHWAY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, chr14q12, GCM_PRKCG, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GCM_RING1, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, KLEIN_PRIMARY_EFFUSION_LYMPHOMA_UP, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GCM_FCGR2B, MORF_PML, GOBP_SENSORY_PERCEPTION
GO Biological Process (6): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), visual perception (GO:0007601), protein geranylgeranylation (GO:0018344), protein modification process (GO:0036211), protein prenylation (GO:0018342), prenylation (GO:0097354)
GO Molecular Function (8): Rab geranylgeranyltransferase activity (GO:0004663), zinc ion binding (GO:0008270), small GTPase binding (GO:0031267), prenyltransferase activity (GO:0004659), protein geranylgeranyltransferase activity (GO:0004661), protein binding (GO:0005515), protein prenyltransferase activity (GO:0008318), transferase activity (GO:0016740)
GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), Rab-protein geranylgeranyltransferase complex (GO:0005968)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| TP53 Regulates Transcription of Cell Death Genes | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| cellular anatomical structure | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| Golgi vesicle transport | 1 |
| sensory perception of light stimulus | 1 |
| protein prenylation | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| protein modification process | 1 |
| prenylation | 1 |
| metabolic process | 1 |
| protein geranylgeranyltransferase activity | 1 |
| transition metal ion binding | 1 |
| GTPase binding | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| protein prenyltransferase activity | 1 |
| binding | 1 |
| prenyltransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| transferase complex | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RABGGTA | RABGGTB | P53611 | 986 |
| RABGGTA | HERC2 | O95714 | 767 |
| RABGGTA | PGGT1B | P53609 | 764 |
| RABGGTA | HLTF | Q14527 | 761 |
| RABGGTA | TGM1 | P22735 | 726 |
| RABGGTA | CHML | P26374 | 723 |
| RABGGTA | RAB1A | P11476 | 672 |
| RABGGTA | RAB27A | P51159 | 667 |
| RABGGTA | FNTB | P49356 | 638 |
| RABGGTA | FNTA | P49354 | 585 |
| RABGGTA | RAB3A | P20336 | 544 |
| RABGGTA | OCA2 | Q04671 | 544 |
| RABGGTA | CHM | P24386 | 535 |
| RABGGTA | FGD3 | Q5JSP0 | 492 |
| RABGGTA | RAB32 | Q13637 | 487 |
IntAct
99 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RABGGTB | PTAR1 | psi-mi:“MI:0914”(association) | 0.920 |
| RABGGTA | RABGGTB | psi-mi:“MI:0914”(association) | 0.880 |
| RABGGTB | RABGGTA | psi-mi:“MI:0915”(physical association) | 0.880 |
| RABGGTA | CHM | psi-mi:“MI:0915”(physical association) | 0.800 |
| VPS25 | VPS36 | psi-mi:“MI:0914”(association) | 0.800 |
| RAB31 | CHM | psi-mi:“MI:0914”(association) | 0.640 |
| RAB32 | CHM | psi-mi:“MI:0914”(association) | 0.640 |
| ILVBL | COG7 | psi-mi:“MI:0914”(association) | 0.640 |
| CHM | RAB5C | psi-mi:“MI:0914”(association) | 0.640 |
| SEC13 | SEC16A | psi-mi:“MI:0914”(association) | 0.640 |
| RAB9A | CHM | psi-mi:“MI:0914”(association) | 0.610 |
| RAB8A | WDR91 | psi-mi:“MI:0914”(association) | 0.600 |
| RABGGTB | PIPSL | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| RABGGTA | YKT6 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB5A | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB7B | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB30 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| RAB29 | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| RAB1A | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| RAB1B | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| RAB9B | CHM | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (127): RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), ETFB (Co-fractionation), RABGGTA (Co-fractionation), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), RABGGTA (Affinity Capture-MS), DPCD (Affinity Capture-MS)
ESM2 similar proteins: A4IG72, A5A779, A5PK19, A7MB11, D3ZUM2, E1BP36, O60294, O95801, P47823, Q08602, Q0P5H9, Q13144, Q1JPJ9, Q3UR70, Q5BK48, Q5EA11, Q5EA80, Q5NVK5, Q5XIA3, Q64350, Q6AY79, Q6SZW1, Q7TMC8, Q7YS91, Q86Y56, Q8BYR1, Q8CHW4, Q8MIR4, Q8N0W3, Q8N0Z6, Q8N6R0, Q8R3H9, Q8WUH2, Q91YR5, Q921Q3, Q924T7, Q92696, Q96EP0, Q96G04, Q96T76
Diamond homologs: A3KPW7, A5A779, O93829, O94412, Q00618, Q08602, Q55DQ4, Q5EA80, Q5NVK5, Q92696, Q9JHK4, Q9USX8, Q9V895, Q8VYB7, Q9FJ32, O60052, Q8N1F8, F4JT78, O49329, P34268, Q4R3P6, Q5M8G4, Q5RFE9, Q5ZLN0, Q6GPJ5, Q6K7R2, Q7SXW3, Q9CRC8, Q9H9A6, Q3TAA7, Q5F479, Q6IRN0, Q6P4K6, P09661, P43333, P57784, Q08963, Q1X8D7, Q4P5F9, Q4R8Y8
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CHM | “down-regulates activity” | RABGGTA | binding |
| RABGGTA | “up-regulates activity” | RAB5A | lipidation |
| RABGGTA | “up-regulates activity” | RAB3A | lipidation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 81 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 |
|---|---|---|---|
| RAB geranylgeranylation | 27 | 73.0× | 3e-43 |
| RAB GEFs exchange GTP for GDP on RABs | 18 | 34.9× | 2e-21 |
| TBC/RABGAPs | 8 | 32.4× | 1e-08 |
| Retrograde transport at the Trans-Golgi-Network | 6 | 20.6× | 4e-05 |
| COPII-mediated vesicle transport | 7 | 17.8× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Rab protein signal transduction | 5 | 66.1× | 8e-07 |
| antigen processing and presentation | 6 | 56.2× | 9e-08 |
| positive regulation of exocytosis | 5 | 40.1× | 1e-05 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 10 | 18.1× | 3e-08 |
| autophagosome assembly | 6 | 18.0× | 6e-05 |
| Golgi organization | 10 | 17.8× | 3e-08 |
| retrograde transport, endosome to Golgi | 6 | 16.4× | 9e-05 |
| intracellular protein transport | 18 | 15.6× | 3e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2901 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:24266888:TC:T | acceptor_gain | 1.0000 |
| 14:24266889:CC:C | acceptor_gain | 1.0000 |
| 14:24266889:CCTGG:C | acceptor_loss | 1.0000 |
| 14:24266890:C:CC | acceptor_gain | 1.0000 |
| 14:24266891:T:C | acceptor_loss | 1.0000 |
| 14:24267654:CCATA:C | donor_loss | 1.0000 |
| 14:24267655:CATAC:C | donor_loss | 1.0000 |
| 14:24267656:ATAC:A | donor_loss | 1.0000 |
| 14:24267657:TAC:T | donor_loss | 1.0000 |
| 14:24267658:ACCTT:A | donor_loss | 1.0000 |
| 14:24267773:CGGC:C | acceptor_gain | 1.0000 |
| 14:24267782:G:C | acceptor_gain | 1.0000 |
| 14:24267782:G:GC | acceptor_gain | 1.0000 |
| 14:24267786:A:AC | acceptor_gain | 1.0000 |
| 14:24267786:A:C | acceptor_gain | 1.0000 |
| 14:24267864:A:C | donor_gain | 1.0000 |
| 14:24267864:ACTT:A | donor_loss | 1.0000 |
| 14:24267865:CTTG:C | donor_loss | 1.0000 |
| 14:24267866:TTGCC:T | donor_loss | 1.0000 |
| 14:24267867:TG:T | donor_loss | 1.0000 |
| 14:24267869:C:CA | donor_loss | 1.0000 |
| 14:24267955:CACC:C | acceptor_gain | 1.0000 |
| 14:24267957:CC:C | acceptor_gain | 1.0000 |
| 14:24267958:CC:C | acceptor_gain | 1.0000 |
| 14:24267959:C:CC | acceptor_gain | 1.0000 |
| 14:24268108:A:AC | donor_gain | 1.0000 |
| 14:24268109:C:CC | donor_gain | 1.0000 |
| 14:24268357:C:A | donor_gain | 1.0000 |
| 14:24268713:AT:A | donor_gain | 1.0000 |
| 14:24268714:T:TA | donor_gain | 1.0000 |
AlphaMissense
3633 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:24269581:A:G | W181R | 1.000 |
| 14:24269581:A:T | W181R | 1.000 |
| 14:24269591:G:C | N177K | 1.000 |
| 14:24269591:G:T | N177K | 1.000 |
| 14:24269684:C:A | W146C | 1.000 |
| 14:24269684:C:G | W146C | 1.000 |
| 14:24269686:A:G | W146R | 1.000 |
| 14:24269686:A:T | W146R | 1.000 |
| 14:24269693:A:C | F143L | 1.000 |
| 14:24269693:A:T | F143L | 1.000 |
| 14:24269953:A:G | F143L | 1.000 |
| 14:24269954:G:C | N142K | 1.000 |
| 14:24269954:G:T | N142K | 1.000 |
| 14:24268136:A:G | L374P | 0.999 |
| 14:24268154:A:G | L368P | 0.999 |
| 14:24268766:A:G | W287R | 0.999 |
| 14:24268766:A:T | W287R | 0.999 |
| 14:24269104:A:C | Y231D | 0.999 |
| 14:24269110:A:G | W229R | 0.999 |
| 14:24269110:A:T | W229R | 0.999 |
| 14:24269114:A:C | S227R | 0.999 |
| 14:24269114:A:T | S227R | 0.999 |
| 14:24269116:T:G | S227R | 0.999 |
| 14:24269135:G:C | F220L | 0.999 |
| 14:24269135:G:T | F220L | 0.999 |
| 14:24269137:A:G | F220L | 0.999 |
| 14:24269572:G:T | R184S | 0.999 |
| 14:24269579:C:A | W181C | 0.999 |
| 14:24269579:C:G | W181C | 0.999 |
| 14:24269676:C:G | R149P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1001689568 (14:24272741 A>G), RS1002121704 (14:24269320 A>T), RS1002200778 (14:24272416 A>G,T), RS1002402298 (14:24265528 C>T), RS1002565484 (14:24267797 A>G), RS1002772936 (14:24271977 C>G,T), RS1003596245 (14:24266205 C>G), RS1004626294 (14:24267388 T>C), RS1005048875 (14:24272786 T>C), RS1005054995 (14:24267211 G>A,C), RS1005544531 (14:24273608 C>G), RS1006481656 (14:24269972 C>T), RS1006531950 (14:24270505 A>T), RS1006702513 (14:24271277 G>A), RS1007058793 (14:24270223 T>C)
Disease associations
OMIM: gene MIM:601905 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL4523994 (PROTEIN COMPLEX), CHEMBL5249 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
11 potent at pChembl≥5 of 11 total, top 10 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.87 | Ki | 1360 | nM | CHEMBL1221574 |
| 5.68 | IC50 | 2100 | nM | CHEMBL1221574 |
| 5.66 | IC50 | 2200 | nM | CHEMBL1221575 |
| 5.51 | IC50 | 3100 | nM | CHEMBL4558573 |
| 5.44 | IC50 | 3600 | nM | CHEMBL4518286 |
| 5.35 | IC50 | 4500 | nM | CHEMBL1221621 |
| 5.33 | IC50 | 4700 | nM | CHEMBL4443727 |
| 5.32 | IC50 | 4800 | nM | CHEMBL4456846 |
| 5.16 | IC50 | 7000 | nM | CHEMBL4469845 |
| 5.16 | IC50 | 7000 | nM | CHEMBL4467525 |
PubChem BioAssay actives
1 with measured affinity, of 25 total; 1 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 |
|---|---|---|---|---|
| (2R,3R,4S,5R)-2-(4-bromophenyl)-4-hexylsulfanyl-1-(4-methylphenyl)sulfonyl-5-propylpyrrolidine-3-carboxylic acid | 1920874: Inhibition of Geranylgeranyl transferase type-2 in human NIH3T3 cells assessed as inhibition of Rab geranylgeranylation incubated for 48 hrs by immunoblotting assay | ic50 | 2.1000 | uM |
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-lapachone | increases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| GW 4064 | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | affects cotreatment, increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Aspirin | increases expression | 1 |
| Cadmium | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Farnesol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Testosterone | decreases expression | 1 |
| Tretinoin | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
24 unique, capped per target: 24 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4315908 | Binding | Inhibition of GGtase-2 in human cells assessed as minimum effective dose required for increase in intracellular lambda chain level after 48 hrs by ELISA | Novel benzimidazole phosphonates as potential inhibitors of protein prenylation. — Bioorg Med Chem Lett |
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.