RHOD
gene geneOn this page
Also known as RhoHP1Rho
Summary
RHOD (ras homolog family member D, HGNC:670) is a protein-coding gene on chromosome 11q13.2, encoding Rho-related GTP-binding protein RhoD (O00212). Involved in endosome dynamics.
Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 29984 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_014578
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:670 |
| Approved symbol | RHOD |
| Name | ras homolog family member D |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RhoHP1, Rho |
| Ensembl gene | ENSG00000173156 |
| Ensembl biotype | protein_coding |
| OMIM | 605781 |
| Entrez | 29984 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 9 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000308831, ENST00000532559, ENST00000533360, ENST00000858135, ENST00000858136, ENST00000858137, ENST00000858138, ENST00000858139, ENST00000941015, ENST00000941016
RefSeq mRNA: 2 — MANE Select: NM_014578
NM_001300886, NM_014578
CCDS: CCDS73330, CCDS8155
Canonical transcript exons
ENST00000308831 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001187012 | 67070425 | 67070559 |
| ENSE00001219272 | 67071435 | 67072017 |
| ENSE00002152983 | 67056847 | 67057034 |
| ENSE00003714154 | 67066738 | 67066847 |
| ENSE00003724845 | 67065896 | 67065983 |
Expression profiles
Bgee: expression breadth ubiquitous, 225 present calls, max score 99.14.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.3928 / max 428.5863, expressed in 1283 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115392 | 18.0673 | 1217 |
| 115391 | 5.6924 | 1121 |
| 115393 | 3.6331 | 702 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.14 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.75 | gold quality |
| endometrium epithelium | UBERON:0004811 | 96.73 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.89 | silver quality |
| right lobe of liver | UBERON:0001114 | 94.76 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 94.46 | gold quality |
| apex of heart | UBERON:0002098 | 94.18 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.56 | silver quality |
| skin of leg | UBERON:0001511 | 92.89 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.53 | gold quality |
| gingiva | UBERON:0001828 | 92.00 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.88 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.75 | gold quality |
| upper leg skin | UBERON:0004262 | 91.75 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.21 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.99 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.94 | gold quality |
| oral cavity | UBERON:0000167 | 90.91 | gold quality |
| periodontal ligament | UBERON:0008266 | 90.62 | gold quality |
| zone of skin | UBERON:0000014 | 90.53 | gold quality |
| right coronary artery | UBERON:0001625 | 90.52 | gold quality |
| right atrium auricular region | UBERON:0006631 | 90.46 | gold quality |
| esophagus | UBERON:0001043 | 90.41 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.40 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.16 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 90.11 | gold quality |
| tibialis anterior | UBERON:0001385 | 89.98 | silver quality |
| ascending aorta | UBERON:0001496 | 89.83 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.68 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.31 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.58 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting RHOD, 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-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-4264 | 96.35 | 64.76 | 1480 |
Literature-anchored findings (GeneRIF, showing 28)
- These results suggest a critical role for the CS amplitude and the balance between Rac and Rho in mechanochemical regulation of lung EC barrier. (PMID:16651639)
- Methylophiopogonanone B appears to induce Rho activation, resulting in actin cytoskeletal reorganization, including dendrite retraction and stress fiber formation. (PMID:17029007)
- Galpha13-Rho signaling axis is required for SDF-1-induced migration through CXCR4 (PMID:17056591)
- The data suggest that Rho-kinase dependent cell contractility contributes to global and local matrix remodeling, whereas Rho dependent activation of mDia and/or other downstream effectors regulates the structure and number of cell processes. (PMID:17342762)
- Binding of Rac1, Rnd1, and RhoD to a novel Rho GTPase interaction motif destabilizes dimerization of the plexin-B1 effector domain (PMID:17916560)
- the the increased expression of p120 isoform 1 during tumor progression contributes to the invasive phenotype of cadherin-deficient carcinomas and that the N-terminal domain of p120 is a valid therapeutic target (PMID:18407999)
- strongly activated in HTLV-1 infected T cell lines derived from HAM/TSP patients. (PMID:18552504)
- DLC1 negatively regulates Rho/ROCK/MLC2 (PMID:18648664)
- A previously unknown function of Brk in regulating both RhoA and Ras by phosphorylating p190 and a crucial role of this Brk-elicited signaling pathway in promoting breast malignancy. (PMID:18829532)
- Rho mediates various phenotypes of malignant transformation by Ras and Src through its effectors, ROCK and mDia [review] (PMID:19160018)
- Data suggest that mammalian cells have two potential steps that require active Rho for the stabilization of midzone microtubules during mitosis and cytokinesis. (PMID:19576212)
- The expression of RhoA/Rho kinase mRNA and protein and function in the RA were significantly stronger than in the IMA, suggesting that RhoA/Rho kinase pathway may be one mechanism by which RA is more susceptible to spasm than IMA. (PMID:19682162)
- estrogen receptor-alpha transcriptional activity is repressed by the Rho/megakaryoblastic leukemia 1 signaling pathway (PMID:19826002)
- Overexpression of RhoD is associated with multiple myeloma. (PMID:20528248)
- Podocyte BK(Ca) channels are regulated by synaptopodin, Rho, and actin microfilaments. (PMID:20630939)
- A GTPase-deficient mutant of RhoD, RhoDG26V, causes hyperplasia and perturbed differentiation of the epidermis. (PMID:22665057)
- Fetal RHD detection in early pregnancy using a single-exon assay in a routine clinical setting is feasible and accurate after its implementation in an unselected pregnant population. (PMID:22776962)
- Data show that RhoD binds the actin nucleation-promoting factor WHAMM (WASp homologue associated with actin Golgi membranes and microtubules), as well as the related filamin A-binding protein FILIP1. (PMID:23087206)
- Data from differentiating cultured erythroid precursor cells suggest that RhAG (Rh-associated glycoprotein) knockdown abolishes Rh blood group expression (RhoD; ICAM4 [intercellular adhesion molecule 4]; CD47 Rh-related antigen) in erythroid cells. (PMID:23417980)
- RhoD interacts with ZIPK in a GTP-dependent manner and modulates stress fiber and focal adhesion reorganization. (PMID:23454120)
- Activated p42/44-MAP kinase, Rho GTPase. (PMID:24706358)
- It regulates relaxation of vascular smooth muscle. (PMID:24717605)
- A novel signaling pathway involving RhoD and its binding partner WHAMM, regulate Golgi dynamics. (PMID:25746724)
- RhoD silencing leads to increased actin filament-containing structures and disruption of cell migration and proliferation. (PMID:28196728)
- RhoD recruits Pak6 to the plasma membrane to antagonize RhoC signaling during cell contraction and blebbing (PMID:28486133)
- The GTPase deficient atypical Rho GTPases, which have a stalled GTPase activity, RhoD has an elevated intrinsic GDP/GTP exchange activity, rendering the protein constitutively active. (PMID:29776664)
- The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis. (PMID:33872315)
- Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis. (PMID:35087170)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rhod | ENSMUSG00000041845 |
| rattus_norvegicus | Rhod | ENSRNOG00000019220 |
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), RND1 (ENSG00000172602), RHOG (ENSG00000177105)
Protein
Protein identifiers
Rho-related GTP-binding protein RhoD — O00212 (reviewed: O00212)
Alternative names: Rho-related protein HP1
All UniProt accessions (2): O00212, E9PIG5
UniProt curated annotations — full annotation on UniProt →
Function. Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution.
Subunit / interactions. Interacts (in GTP-bound form) with DIAPH2 isoform 3, DAPK3, FILIP1 and WHAMM. Interacts with PAK5. Interacts (independent of GTP-loaded status) with ANKFY1.
Subcellular location. Cell membrane. Early endosome.
Tissue specificity. Heart, placenta, liver, skeletal muscle, and pancreas and, with weaker intensity, in several other tissues.
Similarity. Belongs to the small GTPase superfamily. Rho family.
RefSeq proteins (2): NP_001287815, NP_055393* (*=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 (28 total): helix 9, strand 7, binding site 3, turn 2, chain 1, propeptide 1, short sequence motif 1, modified residue 1, lipid moiety-binding region 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2J1L | X-RAY DIFFRACTION | 2.5 |
| 7KDC | X-RAY DIFFRACTION | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00212-F1 | 89.34 | 0.81 |
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 (3): 24–31; 71–75; 129–132
Post-translational modifications (2): 207, 207
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 207 | abolishes endosomal localization. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-9013405 | RHOD GTPase cycle |
MSigDB gene sets: 447 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, MYOGENIN_Q6, GOBP_SENSORY_PERCEPTION_OF_TEMPERATURE_STIMULUS, BROWNE_HCMV_INFECTION_8HR_UP, LFA1_Q6, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_FOCAL_ADHESION_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION
GO Biological Process (16): protein targeting (GO:0006605), Rho protein signal transduction (GO:0007266), fibroblast growth factor receptor signaling pathway (GO:0008543), lamellipodium assembly (GO:0030032), actin filament polymerization (GO:0030041), positive regulation of cell migration (GO:0030335), regulation of actin cytoskeleton organization (GO:0032956), positive regulation of cell adhesion (GO:0045785), focal adhesion assembly (GO:0048041), actin filament bundle assembly (GO:0051017), regulation of small GTPase mediated signal transduction (GO:0051056), regulation of focal adhesion assembly (GO:0051893), actin filament organization (GO:0007015), small GTPase-mediated signal transduction (GO:0007264), cell projection assembly (GO:0030031), response to fibroblast growth factor (GO:0071774)
GO Molecular Function (6): GTPase activity (GO:0003924), guanyl-nucleotide exchange factor activity (GO:0005085), GTP binding (GO:0005525), protein kinase binding (GO:0019901), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (9): Golgi membrane (GO:0000139), mitochondrial outer membrane (GO:0005741), early endosome (GO:0005769), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), cell projection (GO:0042995), endosome (GO:0005768), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase Effectors | 1 |
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| small GTPase-mediated signal transduction | 2 |
| actin cytoskeleton organization | 2 |
| cellular component assembly | 2 |
| bounding membrane of organelle | 2 |
| endosome | 2 |
| establishment of protein localization | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to fibroblast growth factor stimulus | 1 |
| lamellipodium organization | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| actin polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| cell adhesion | 1 |
| regulation of cell adhesion | 1 |
| positive regulation of cellular process | 1 |
| cell-substrate junction assembly | 1 |
| cell-matrix adhesion | 1 |
| actin filament bundle organization | 1 |
| regulation of intracellular signal transduction | 1 |
| regulation of cell-matrix adhesion | 1 |
| focal adhesion assembly | 1 |
| regulation of cell-substrate junction assembly | 1 |
| supramolecular fiber organization | 1 |
| intracellular signaling cassette | 1 |
| cell projection organization | 1 |
| response to growth factor | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| kinase binding | 1 |
| nucleoside phosphate binding | 1 |
Protein interactions and networks
STRING
2714 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RHOD | PLXNB1 | O43157 | 875 |
| RHOD | DIAPH2 | O60879 | 865 |
| RHOD | DIAPH1 | O60610 | 705 |
| RHOD | WHAMM | Q8TF30 | 661 |
| RHOD | SRC | P12931 | 593 |
| RHOD | ROCK1 | Q13464 | 583 |
| RHOD | PLXNA1 | Q9UIW2 | 573 |
| RHOD | ANKFY1 | Q9P2R3 | 567 |
| RHOD | DAPK3 | O43293 | 553 |
| RHOD | PAK6 | Q9NQU5 | 548 |
| RHOD | TST | Q16762 | 542 |
| RHOD | RHOBTB3 | O94955 | 506 |
| RHOD | ARHGDIG | Q99819 | 499 |
| RHOD | MYOG | P15173 | 490 |
| RHOD | RHPN1 | Q8TCX5 | 471 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RHOD | DAAM1 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| RHOD | PLXNB2 | psi-mi:“MI:0914”(association) | 0.640 |
| RHOD | DIAPH1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| PLXNB1 | RHOD | psi-mi:“MI:0915”(physical association) | 0.400 |
| RHOD | IHH | psi-mi:“MI:0915”(physical association) | 0.370 |
| ADCK5 | RHOD | psi-mi:“MI:0915”(physical association) | 0.370 |
| RHOD | DAPK3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (590): ANKFY1 (Affinity Capture-Western), ANKFY1 (Reconstituted Complex), RHOD (Two-hybrid), SPTB (Affinity Capture-MS), PLXNB2 (Affinity Capture-MS), DAAM1 (Affinity Capture-MS), TTC19 (Affinity Capture-MS), CETN3 (Affinity Capture-MS), TRMT61B (Affinity Capture-MS), DIAPH1 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), C1orf198 (Affinity Capture-MS), SPTB (Affinity Capture-MS), DAAM1 (Affinity Capture-MS)
ESM2 similar proteins: D3Z8L7, E2RQ15, O00212, O13928, O77683, P06781, P10833, P35278, P46629, P51146, P51147, P51148, P52198, P57735, P61017, P61018, P61587, P61588, P97348, Q06AU6, Q0PD08, Q15669, Q1RMR4, Q23862, Q2HJ68, Q2HJG3, Q32NQ0, Q3SZA1, Q3ZC27, Q58DS9, Q58DW6, Q5R7L7, Q5R9F4, Q6SA80, Q86YS6, Q874R1, Q8BLR7, Q8BYP3, Q91ZR1, Q96AX2
Diamond homologs: A1L1L6, F4J0W4, O00212, O04369, O59781, O94844, P0CO78, P0CO79, P34144, P34150, P39722, P48554, P60763, P60764, Q17QI8, Q24814, Q298L5, Q2HJF8, Q2UM43, Q32LU1, Q35638, Q38912, Q38919, Q38937, Q39435, Q41253, Q41254, Q4I2W2, Q4PB75, Q4WN24, Q5B5L3, Q5E9M9, Q5ZM73, Q5ZM83, Q623S8, Q6C2J1, Q6CY37, Q6DIS1, Q6EP31, Q6FIR8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1022 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:67057032:GAG:G | donor_gain | 1.0000 |
| 11:67057032:GAGGT:G | donor_loss | 1.0000 |
| 11:67057035:G:C | donor_loss | 1.0000 |
| 11:67057035:G:GG | donor_gain | 1.0000 |
| 11:67057036:T:A | donor_loss | 1.0000 |
| 11:67065895:GA:G | acceptor_gain | 1.0000 |
| 11:67065980:GCAG:G | donor_gain | 1.0000 |
| 11:67065981:CAG:C | donor_loss | 1.0000 |
| 11:67065982:AG:A | donor_loss | 1.0000 |
| 11:67065983:GGTG:G | donor_loss | 1.0000 |
| 11:67065984:G:C | donor_loss | 1.0000 |
| 11:67065985:T:A | donor_loss | 1.0000 |
| 11:67066733:CCCA:C | acceptor_loss | 1.0000 |
| 11:67066735:CAGGG:C | acceptor_loss | 1.0000 |
| 11:67066736:A:AC | acceptor_loss | 1.0000 |
| 11:67066736:A:AG | acceptor_gain | 1.0000 |
| 11:67066737:G:GG | acceptor_gain | 1.0000 |
| 11:67066846:GG:G | donor_gain | 1.0000 |
| 11:67066846:GGGTA:G | donor_loss | 1.0000 |
| 11:67066847:GG:G | donor_gain | 1.0000 |
| 11:67070412:C:CA | acceptor_gain | 1.0000 |
| 11:67070421:GCA:G | acceptor_loss | 1.0000 |
| 11:67070422:CAGTG:C | acceptor_loss | 1.0000 |
| 11:67070423:A:AG | acceptor_gain | 1.0000 |
| 11:67070423:AGT:A | acceptor_gain | 1.0000 |
| 11:67070423:AGTG:A | acceptor_gain | 1.0000 |
| 11:67070424:G:GA | acceptor_gain | 1.0000 |
| 11:67070424:GT:G | acceptor_gain | 1.0000 |
| 11:67070424:GTG:G | acceptor_gain | 1.0000 |
| 11:67070424:GTGG:G | acceptor_gain | 1.0000 |
AlphaMissense
1369 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:67070494:C:A | R134S | 0.993 |
| 11:67070495:G:C | R134P | 0.993 |
| 11:67066803:T:C | F96L | 0.991 |
| 11:67066805:C:A | F96L | 0.991 |
| 11:67066805:C:G | F96L | 0.991 |
| 11:67057026:T:C | F42L | 0.988 |
| 11:67057028:C:A | F42L | 0.988 |
| 11:67057028:C:G | F42L | 0.988 |
| 11:67065975:A:C | D71A | 0.988 |
| 11:67056992:G:C | K30N | 0.986 |
| 11:67056992:G:T | K30N | 0.986 |
| 11:67065974:G:C | D71H | 0.986 |
| 11:67070471:T:A | V126D | 0.986 |
| 11:67056990:A:C | K30Q | 0.984 |
| 11:67070425:T:A | W111R | 0.984 |
| 11:67070425:T:C | W111R | 0.984 |
| 11:67070484:G:C | K130N | 0.984 |
| 11:67070484:G:T | K130N | 0.984 |
| 11:67065975:A:T | D71V | 0.983 |
| 11:67056991:A:C | K30T | 0.982 |
| 11:67056991:A:T | K30M | 0.982 |
| 11:67066824:A:C | S103R | 0.982 |
| 11:67066826:C:A | S103R | 0.982 |
| 11:67066826:C:G | S103R | 0.982 |
| 11:67065914:T:C | F51L | 0.981 |
| 11:67065916:T:A | F51L | 0.981 |
| 11:67065916:T:G | F51L | 0.981 |
| 11:67065976:C:A | D71E | 0.980 |
| 11:67065976:C:G | D71E | 0.980 |
| 11:67066802:C:G | C95W | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000015276 (11:67058287 C>T), RS1000088422 (11:67058474 C>T), RS1000260392 (11:67062572 A>G), RS1000326106 (11:67063191 A>G), RS1000513718 (11:67071848 C>G), RS1000599425 (11:67065163 C>A), RS1000605759 (11:67064363 C>G), RS1000633499 (11:67064775 C>T), RS1000904414 (11:67057935 C>T), RS1000946749 (11:67071571 G>A), RS1001184509 (11:67070796 C>T), RS1001564285 (11:67071169 G>A), RS1001709159 (11:67057372 A>G), RS1001750892 (11:67070452 A>C), RS1001923103 (11:67057920 C>A,T)
Disease associations
OMIM: gene MIM:605781 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000817_49 | Height | 9.000000e-10 |
| GCST002647_42 | Height | 6.000000e-15 |
| GCST90020028_1916 | Hip circumference adjusted for BMI | 1.000000e-14 |
| GCST90020029_342 | Waist circumference adjusted for body mass index | 4.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases methylation, increases expression, increases methylation | 2 |
| Smoke | decreases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| moringin | affects cotreatment, decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| 3,4,3’,4’-tetrachlorobiphenyl | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| chloropicrin | decreases expression | 1 |
| dimethylarsinous acid | increases expression | 1 |
| (E)-4-((2-N-(4-methoxybenzenesulfonyl)amino)stilbazole)1-oxide | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | decreases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases response to substance | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Camptothecin | increases expression | 1 |
| Cannabidiol | affects cotreatment, decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | increases expression, affects cotreatment | 1 |
| Doxorubicin | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TI97 | HAP1 RHOD (-) 1 | Cancer cell line | Male |
| CVCL_TI98 | HAP1 RHOD (-) 2 | 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.