RND1
gene geneOn this page
Also known as Rho6ARHSRHOS
Summary
RND1 (Rho family GTPase 1, HGNC:18314) is a protein-coding gene on chromosome 12q13.12, encoding Rho-related GTP-binding protein Rho6 (Q92730). Lacks intrinsic GTPase activity.
This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension.
Source: NCBI Gene 27289 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 25 total
- MANE Select transcript:
NM_014470
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18314 |
| Approved symbol | RND1 |
| Name | Rho family GTPase 1 |
| Location | 12q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Rho6, ARHS, RHOS |
| Ensembl gene | ENSG00000172602 |
| Ensembl biotype | protein_coding |
| OMIM | 609038 |
| Entrez | 27289 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 retained_intron, 2 protein_coding, 1 nonsense_mediated_decay
ENST00000309739, ENST00000548445, ENST00000550607, ENST00000551243, ENST00000553260, ENST00000649147
RefSeq mRNA: 1 — MANE Select: NM_014470
NM_014470
CCDS: CCDS8771
Canonical transcript exons
ENST00000309739 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001187861 | 48865648 | 48865870 |
| ENSE00001313310 | 48857145 | 48858241 |
| ENSE00003475841 | 48862009 | 48862118 |
| ENSE00003521763 | 48864783 | 48864870 |
| ENSE00003669264 | 48860997 | 48861131 |
Expression profiles
Bgee: expression breadth ubiquitous, 209 present calls, max score 95.83.
FANTOM5 (CAGE): breadth broad, TPM avg 3.4125 / max 633.8286, expressed in 750 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130745 | 3.4125 | 750 |
Top tissues by expression
274 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vena cava | UBERON:0004087 | 95.83 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.91 | gold quality |
| frontal pole | UBERON:0002795 | 93.46 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.35 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.30 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.13 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.04 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.78 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.43 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.35 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.31 | gold quality |
| frontal cortex | UBERON:0001870 | 91.25 | gold quality |
| neocortex | UBERON:0001950 | 91.21 | gold quality |
| cortical plate | UBERON:0005343 | 91.14 | gold quality |
| secondary oocyte | CL:0000655 | 90.99 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 90.21 | gold quality |
| occipital lobe | UBERON:0002021 | 90.17 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.00 | gold quality |
| oocyte | CL:0000023 | 88.84 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.80 | gold quality |
| liver | UBERON:0002107 | 88.32 | gold quality |
| ventricular zone | UBERON:0003053 | 87.96 | gold quality |
| gall bladder | UBERON:0002110 | 87.89 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.88 | gold quality |
| telencephalon | UBERON:0001893 | 87.65 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.51 | gold quality |
| amygdala | UBERON:0001876 | 86.86 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 86.85 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 86.79 | gold quality |
| caudate nucleus | UBERON:0001873 | 86.48 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 26.08 |
| E-MTAB-10137 | no | 8.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
64 targeting RND1, 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-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-6080 | 99.43 | 69.43 | 373 |
| HSA-MIR-3911 | 99.38 | 66.95 | 1087 |
| HSA-MIR-4796-5P | 99.34 | 70.06 | 810 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-4687-5P | 99.14 | 66.26 | 488 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-4464 | 98.95 | 67.73 | 820 |
| HSA-MIR-4748 | 98.95 | 67.53 | 810 |
Literature-anchored findings (GeneRIF, showing 17)
- Socius is a novel Rnd GTPase-interacting protein involved in disassembly of actin stress fibers (PMID:11940653)
- The RND1 mRNA expression levels increased significantly after gestation in myometria. (PMID:16311049)
- Binding of Rac1, Rnd1, and RhoD to a novel Rho GTPase interaction motif destabilizes dimerization of the plexin-B1 effector domain (PMID:17916560)
- SCG10 acts as an effector downstream of Rnd1 to regulate axon extensions by modulating microtubule organization. (PMID:18996843)
- Rnd1 does not play a role in the activation of plexin-C1 and -D1 (PMID:21610070)
- role of the N-terminal region in signaling; Rnd1 and Rnd3 have a KERRA (Lys-Glu-Arg-Arg-Ala) sequence of amino acids in their N-terminus, which functions as the lipid raft-targeting determinant; the sequence mediates lipid raft targeting of p190 RhoGAP correlated with its activation (PMID:22357615)
- Data indicate that Rnd1 efficiently displaces Rac1 from its complex with Plexin-B1 but not vice versa. (PMID:23603360)
- These results reveal a previously unappreciated mechanism through which Rnd1 restrains activation of Ras-MAPK signalling and breast tumour initiation and progression (PMID:25531777)
- RND1 plays an important role in the progression of esophageal squamous cell carcinoma (PMID:26250459)
- Reduced RND1 expression in HCC was associated with cancer progression, likely through regulation of the Ras signaling pathway. (PMID:27770342)
- Studies suggest that Rho GTPase signalling is a complicated mechanism in RhoA-driven cancer cell invasive migration. (PMID:27913679)
- Analysis of the interaction of Plexin-B1 and Plexin-B2 with Rnd family proteins shows lack of binding specificity. (PMID:29040270)
- Rnd1-suppressed epithelial mesenchymal transformation-mediated metastasis of hepatocellular carcinoma cells by reducing the activity of the RhoA/Raf/MEK/ERK signaling pathway. (PMID:29706627)
- we highlight that RND1 expression is induced by anticancer agents and modulates their response. Of note, RND1 mRNA levels in tumors could be used as a predictive marker of both patient prognosis and response to anticancer agents. (PMID:31344837)
- Endothelial Notch signaling directly regulates the small GTPase RND1 to facilitate Notch suppression of endothelial migration. (PMID:35102202)
- MiR-4652-5p Targets RND1 to Regulate Cell Adhesion and Promote Lung Squamous Cell Carcinoma Progression. (PMID:35334070)
- Essential role of Rnd1 in innate immunity during viral and bacterial infections. (PMID:35654795)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnd1b | ENSDARG00000004218 |
| danio_rerio | rnd1a | ENSDARG00000030547 |
| mus_musculus | Rnd1 | ENSMUSG00000054855 |
| rattus_norvegicus | Rnd1 | ENSRNOG00000059857 |
Paralogs (22): RHOBTB2 (ENSG00000008853), RHOA (ENSG00000067560), CDC42 (ENSG00000070831), RHOBTB1 (ENSG00000072422), RHOV (ENSG00000104140), RND2 (ENSG00000108830), RND3 (ENSG00000115963), RHOU (ENSG00000116574), RHOQ (ENSG00000119729), RHOJ (ENSG00000126785), RHOT1 (ENSG00000126858), RAC2 (ENSG00000128340), RAC1 (ENSG00000136238), RHOF (ENSG00000139725), RHOT2 (ENSG00000140983), RHOB (ENSG00000143878), RHOC (ENSG00000155366), RHOBTB3 (ENSG00000164292), RHOH (ENSG00000168421), RAC3 (ENSG00000169750), RHOD (ENSG00000173156), RHOG (ENSG00000177105)
Protein
Protein identifiers
Rho-related GTP-binding protein Rho6 — Q92730 (reviewed: Q92730)
Alternative names: Rho family GTPase 1, Rnd1
All UniProt accessions (3): Q92730, F8VXU4, H0YHG7
UniProt curated annotations — full annotation on UniProt →
Function. Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments.
Subunit / interactions. Binds GRB7 and PLXNB1. Interacts with UBXD5. Interacts with PLXNA2.
Subcellular location. Cell membrane. Cytoplasm. Cytoskeleton.
Tissue specificity. Mostly expressed in brain and liver.
Similarity. Belongs to the small GTPase superfamily. Rho family.
RefSeq proteins (1): NP_055285* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR003578 | Small_GTPase_Rho | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00071
UniProt features (31 total): helix 9, strand 7, binding site 5, mutagenesis site 2, turn 2, chain 1, propeptide 1, sequence variant 1, short sequence motif 1, modified residue 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3Q3J | X-RAY DIFFRACTION | 1.97 |
| 2REX | X-RAY DIFFRACTION | 2.3 |
| 2CLS | X-RAY DIFFRACTION | 2.31 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92730-F1 | 85.01 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 23–28; 38–45; 67–71; 125–128; 169–170
Post-translational modifications (2): 229, 229
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 27 | impairs interaction with ubxd5. |
| 45 | abolishes interaction with ubxd5. |
Function
Pathways and Gene Ontology
Reactome pathways
13 pathways
| ID | Pathway |
|---|---|
| R-HSA-399955 | SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion |
| R-HSA-416550 | Sema4D mediated inhibition of cell attachment and migration |
| R-HSA-416572 | Sema4D induced cell migration and growth-cone collapse |
| R-HSA-9696273 | RND1 GTPase cycle |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-373755 | Semaphorin interactions |
| R-HSA-400685 | Sema4D in semaphorin signaling |
| R-HSA-422475 | Axon guidance |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9675108 | Nervous system development |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 208 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE45365_NK_CELL_VS_BCELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, FARMER_BREAST_CANCER_CLUSTER_7, GOBP_NEURON_MATURATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_NEUROGENESIS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, NFKB_Q6, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, MODULE_66, GOBP_ANATOMICAL_STRUCTURE_MATURATION, NFKB_C, MUELLER_PLURINET
GO Biological Process (6): actin filament organization (GO:0007015), negative regulation of cell adhesion (GO:0007162), signal transduction (GO:0007165), small GTPase-mediated signal transduction (GO:0007264), neuron remodeling (GO:0016322), regulation of actin cytoskeleton organization (GO:0032956)
GO Molecular Function (6): GTPase activity (GO:0003924), signaling receptor binding (GO:0005102), GTP binding (GO:0005525), protein kinase binding (GO:0019901), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (7): cytosol (GO:0005829), plasma membrane (GO:0005886), adherens junction (GO:0005912), actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Semaphorin interactions | 2 |
| Sema4D in semaphorin signaling | 2 |
| RHO GTPase cycle | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Axon guidance | 1 |
| Nervous system development | 1 |
| Signaling by Rho GTPases | 1 |
| Developmental Biology | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| actin cytoskeleton organization | 2 |
| supramolecular fiber organization | 1 |
| cell adhesion | 1 |
| regulation of cell adhesion | 1 |
| negative regulation of cellular process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| intracellular signaling cassette | 1 |
| neuron maturation | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| protein binding | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| kinase binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2765 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RND1 | PLXNB1 | O43157 | 990 |
| RND1 | SEMA4D | Q92854 | 920 |
| RND1 | UBXN11 | Q5T124 | 897 |
| RND1 | RRAS | P10301 | 885 |
| RND1 | PLXNA1 | Q9UIW2 | 885 |
| RND1 | ARHGAP35 | Q9NRY4 | 879 |
| RND1 | C2CD4A | Q8NCU7 | 776 |
| RND1 | C2CD4B | A6NLJ0 | 764 |
| RND1 | GRB7 | Q14451 | 708 |
| RND1 | RASA1 | P20936 | 692 |
| RND1 | UNC5B | Q8IZJ1 | 691 |
| RND1 | FLRT3 | Q9NZU0 | 684 |
| RND1 | ARF3 | P16587 | 679 |
| RND1 | RAP2B | P17964 | 673 |
| RND1 | SEMA3A | Q14563 | 584 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RND1 | PLXNB1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| RND1 | PLXNB1 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| PLXNB1 | RND1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| GRB7 | RND1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| RND1 | GRB7 | psi-mi:“MI:0915”(physical association) | 0.580 |
| RND1 | PLXNB2 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| ARFIP2 | RND1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPX8 | RND1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSC22D1 | KRT1 | psi-mi:“MI:0914”(association) | 0.460 |
| RND1 | PLXNB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RND1 | ARHGAP35 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CREB3L2 | RND1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RND1 | ID3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZNF212 | RND1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RND1 | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RND1 | GPX8 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (257): RND1 (Two-hybrid), RND1 (Two-hybrid), ARHGAP5 (Affinity Capture-Western), ARHGAP5 (Reconstituted Complex), RND1 (Reconstituted Complex), RND1 (Affinity Capture-Western), CCNI (Two-hybrid), COPS2 (Two-hybrid), EEF1A1 (Two-hybrid), MYH7 (Two-hybrid), MYOM3 (Two-hybrid), MYZAP (Two-hybrid), NEDD1 (Two-hybrid), PAIP1 (Two-hybrid), RAI14 (Two-hybrid)
ESM2 similar proteins: A0FGR8, A1DZY4, A5D7J5, O35141, O35929, O75628, O75808, O94103, P01114, P01115, P0C0E4, P27040, P35739, P55040, P55041, P55043, P63032, P63033, P70268, Q00993, Q06AU5, Q13637, Q17QI8, Q3UFB7, Q496Y0, Q5R541, Q63433, Q67VP4, Q6IMB1, Q6P0U3, Q6T310, Q7L0Q8, Q7YS69, Q864R5, Q8HXH0, Q8IYK8, Q8J212, Q8QFP8, Q8VDU1, Q8VEL9
Diamond homologs: A0A286QZ36, C4YDI6, O00212, O42825, O76321, O77683, O88931, P01122, P06780, P08134, P0CY33, P15153, P17081, P19073, P22122, P24406, P34144, P34145, P34146, P34148, P34149, P34150, P40792, P40793, P48148, P48554, P52198, P60763, P60764, P60766, P60952, P60953, P61585, P61586, P61587, P61588, P61589, P62745, P62746, P62747
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RND1 | up-regulates | MAPK8 | binding |
| DVL1 | up-regulates | RND1 | |
| GRB7 | up-regulates | RND1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
595 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:48858237:CAACC:C | acceptor_gain | 1.0000 |
| 12:48858240:CC:C | acceptor_gain | 1.0000 |
| 12:48858241:CC:C | acceptor_gain | 1.0000 |
| 12:48860993:ACAC:A | donor_loss | 1.0000 |
| 12:48860995:A:AT | donor_loss | 1.0000 |
| 12:48860996:CCTG:C | donor_gain | 1.0000 |
| 12:48861127:CTCCA:C | acceptor_gain | 1.0000 |
| 12:48861128:TCCA:T | acceptor_gain | 1.0000 |
| 12:48861129:CCA:C | acceptor_gain | 1.0000 |
| 12:48861129:CCAC:C | acceptor_gain | 1.0000 |
| 12:48861130:CA:C | acceptor_gain | 1.0000 |
| 12:48861130:CAC:C | acceptor_gain | 1.0000 |
| 12:48861131:AC:A | acceptor_loss | 1.0000 |
| 12:48861132:C:CC | acceptor_gain | 1.0000 |
| 12:48861139:G:C | acceptor_gain | 1.0000 |
| 12:48861139:G:GC | acceptor_gain | 1.0000 |
| 12:48861145:C:CT | acceptor_gain | 1.0000 |
| 12:48861146:A:T | acceptor_gain | 1.0000 |
| 12:48861156:G:C | acceptor_gain | 1.0000 |
| 12:48861156:G:GC | acceptor_gain | 1.0000 |
| 12:48862003:TCTTA:T | donor_loss | 1.0000 |
| 12:48862004:CTTA:C | donor_loss | 1.0000 |
| 12:48862005:TTA:T | donor_loss | 1.0000 |
| 12:48862006:TA:T | donor_loss | 1.0000 |
| 12:48862007:A:AC | donor_gain | 1.0000 |
| 12:48862007:A:T | donor_loss | 1.0000 |
| 12:48862008:C:CA | donor_loss | 1.0000 |
| 12:48862008:C:CC | donor_gain | 1.0000 |
| 12:48862008:CCTT:C | donor_gain | 1.0000 |
| 12:48862118:CCTGG:C | acceptor_gain | 1.0000 |
AlphaMissense
1504 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:48861131:A:G | W107R | 1.000 |
| 12:48861131:A:T | W107R | 1.000 |
| 12:48864791:T:A | D67V | 1.000 |
| 12:48864791:T:G | D67A | 1.000 |
| 12:48864850:G:C | F47L | 1.000 |
| 12:48864850:G:T | F47L | 1.000 |
| 12:48864852:A:G | F47L | 1.000 |
| 12:48865688:G:A | T27I | 1.000 |
| 12:48865690:C:A | K26N | 1.000 |
| 12:48865690:C:G | K26N | 1.000 |
| 12:48861061:C:G | R130P | 0.999 |
| 12:48861064:A:G | L129P | 0.999 |
| 12:48861072:C:A | K126N | 0.999 |
| 12:48861072:C:G | K126N | 0.999 |
| 12:48861077:A:G | C125R | 0.999 |
| 12:48861079:C:T | G124D | 0.999 |
| 12:48861129:C:A | W107C | 0.999 |
| 12:48861129:C:G | W107C | 0.999 |
| 12:48862054:A:C | C91W | 0.999 |
| 12:48862056:A:G | C91R | 0.999 |
| 12:48862086:A:G | C81R | 0.999 |
| 12:48862095:G:C | R78G | 0.999 |
| 12:48862095:G:T | R78S | 0.999 |
| 12:48862097:A:T | V77D | 0.999 |
| 12:48862118:C:T | G70E | 0.999 |
| 12:48864790:A:C | D67E | 0.999 |
| 12:48864790:A:T | D67E | 0.999 |
| 12:48864791:T:C | D67G | 0.999 |
| 12:48864792:C:A | D67Y | 0.999 |
| 12:48864792:C:G | D67H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000127221 (12:48861170 A>T), RS1000633517 (12:48860403 T>A), RS1000687278 (12:48867155 G>A), RS1000732835 (12:48862848 C>T), RS1001685223 (12:48864246 C>T), RS1001748877 (12:48859956 T>G), RS1001855236 (12:48859253 T>C), RS1001925717 (12:48864007 G>A,C), RS1002328682 (12:48866417 C>T), RS1002932123 (12:48865463 G>C), RS1002994847 (12:48863310 C>T), RS1003810772 (12:48860363 G>A), RS1004055234 (12:48865227 C>T), RS1004163392 (12:48860002 T>C), RS1004715189 (12:48864404 TGTGTGTGTGTGTGCGCGCGCGCGC>T)
Disease associations
OMIM: gene MIM:609038 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_1 | Bipolar disorder | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2453488 | RND1 | 0.00 | 0 |
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | affects expression, affects cotreatment, increases expression | 5 |
| Valproic Acid | increases expression, affects cotreatment, decreases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| Estradiol | decreases expression, decreases reaction, affects cotreatment, increases expression | 4 |
| Cadmium Chloride | decreases expression, increases expression | 4 |
| Cyclosporine | affects expression, increases expression | 3 |
| afimoxifene | decreases expression, decreases reaction, increases expression, affects reaction | 2 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, affects cotreatment, increases expression | 2 |
| Zoledronic Acid | increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Silicon Dioxide | increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| resorcinol | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| 15-acetyldeoxynivalenol | increases expression | 1 |
| tebuconazole | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| clothianidin | increases expression | 1 |
| abrine | increases expression | 1 |
| ormosil | affects binding, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| licochalcone B | increases expression | 1 |
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.