RHOF
gene geneOn this page
Also known as FLJ20247RIF
Summary
RHOF (ras homolog family member F, filopodia associated, HGNC:15703) is a protein-coding gene on chromosome 12q24.31, encoding Rho-related GTP-binding protein RhoF (Q9HBH0). Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. It is a selective cancer dependency (DepMap: 14.2% of cell lines).
Predicted to enable GTP binding activity; GTPase activity; and protein kinase binding activity. Involved in actin filament organization. Located in extracellular exosome.
Source: NCBI Gene 54509 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 39 total
- Cancer dependency (DepMap): dependent in 14.2% of screened cell lines
- MANE Select transcript:
NM_019034
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15703 |
| Approved symbol | RHOF |
| Name | ras homolog family member F, filopodia associated |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20247, RIF |
| Ensembl gene | ENSG00000139725 |
| Ensembl biotype | protein_coding |
| OMIM | 618867 |
| Entrez | 54509 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000267205, ENST00000535560, ENST00000537171, ENST00000537265, ENST00000541657, ENST00000545544, ENST00000546227
RefSeq mRNA: 1 — MANE Select: NM_019034
NM_019034
CCDS: CCDS9222
Canonical transcript exons
ENST00000267205 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001320034 | 121777754 | 121779662 |
| ENSE00003705133 | 121793152 | 121793239 |
| ENSE00003708134 | 121781083 | 121781192 |
| ENSE00003708483 | 121780872 | 121781006 |
| ENSE00003842855 | 121793496 | 121793688 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 94.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.7424 / max 995.1086, expressed in 1682 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133758 | 22.9672 | 1312 |
| 133759 | 12.5225 | 1473 |
| 133761 | 1.3954 | 659 |
| 133763 | 1.1487 | 549 |
| 133760 | 0.4756 | 111 |
| 133757 | 0.1248 | 52 |
| 133752 | 0.1082 | 36 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 94.96 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.77 | gold quality |
| blood | UBERON:0000178 | 91.43 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.84 | gold quality |
| apex of heart | UBERON:0002098 | 89.62 | gold quality |
| lymph node | UBERON:0000029 | 89.05 | gold quality |
| cartilage tissue | UBERON:0002418 | 88.22 | gold quality |
| duodenum | UBERON:0002114 | 87.83 | gold quality |
| jejunal mucosa | UBERON:0000399 | 87.25 | gold quality |
| spleen | UBERON:0002106 | 86.28 | gold quality |
| leukocyte | CL:0000738 | 86.09 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.57 | gold quality |
| bone marrow cell | CL:0002092 | 85.49 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.38 | gold quality |
| monocyte | CL:0000576 | 85.29 | gold quality |
| mononuclear cell | CL:0000842 | 85.28 | gold quality |
| colonic mucosa | UBERON:0000317 | 85.28 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 84.84 | gold quality |
| bone marrow | UBERON:0002371 | 84.66 | gold quality |
| upper lobe of lung | UBERON:0008948 | 84.49 | gold quality |
| metanephros cortex | UBERON:0010533 | 84.44 | gold quality |
| amniotic fluid | UBERON:0000173 | 84.39 | gold quality |
| ileal mucosa | UBERON:0000331 | 84.27 | silver quality |
| heart left ventricle | UBERON:0002084 | 84.22 | gold quality |
| cardiac ventricle | UBERON:0002082 | 84.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.74 | gold quality |
| caecum | UBERON:0001153 | 83.35 | gold quality |
| small intestine | UBERON:0002108 | 83.30 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 83.10 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 83.04 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-86618 | yes | 459.60 |
| E-MTAB-8142 | yes | 25.44 |
| E-MTAB-7249 | yes | 10.98 |
| E-ANND-3 | yes | 4.84 |
| E-CURD-120 | no | 7.06 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting RHOF, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-10393-3P | 99.72 | 66.56 | 961 |
| HSA-MIR-6801-5P | 99.72 | 66.50 | 981 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 14.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- The protein encoded by this gene causes the formation of long, actin-rich filopodia. In combination with RAC1 and CDC42 it causes additional actin rearrangments, suggesting that this protein is intimately involved in regulation of the cytoskeleton. (PMID:11084341)
- deletion of genes RHOF in early-stage mycosis fungoides. (PMID:18663754)
- Rif GTPase is an alternative trigger of stress-fiber formation in epithelial cells. (PMID:20233848)
- The authors show that enteropathogenic Escherichia coli translocates EspH, which inactivates mammalian RhoGEFs and triggers cytotoxicity. (PMID:22251971)
- In the present review, our aim is to summarize the current information about the Rif effectors and how Rif remodels actin cytoskeleton in many aspects. [Review] (PMID:22260703)
- Rif has two separate roles in FARP1 regulation-in controlling its association with plexinA4, and in releasing active RhoA from a plexinA4/FARP1 complex. (PMID:25668492)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rhof | ENSDARG00000054389 |
| mus_musculus | Rhof | ENSMUSG00000029449 |
| rattus_norvegicus | Rhof | ENSRNOG00000042607 |
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), RHOT2 (ENSG00000140983), RHOB (ENSG00000143878), RHOC (ENSG00000155366), RHOBTB3 (ENSG00000164292), RHOH (ENSG00000168421), RAC3 (ENSG00000169750), RND1 (ENSG00000172602), RHOD (ENSG00000173156), RHOG (ENSG00000177105)
Protein
Protein identifiers
Rho-related GTP-binding protein RhoF — Q9HBH0 (reviewed: Q9HBH0)
Alternative names: Rho family GTPase Rif, Rho in filopodia
All UniProt accessions (5): Q9HBH0, F5GXB1, V9GY67, V9GYB3, V9GYQ1
UniProt curated annotations — full annotation on UniProt →
Function. Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Causes the formation of thin, actin-rich surface projections called filopodia. Functions cooperatively with CDC42 and Rac to generate additional structures, increasing the diversity of actin-based morphology.
Subcellular location. Cell membrane. Cytoplasm. Cytoskeleton.
Similarity. Belongs to the small GTPase superfamily. Rho family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HBH0-1 | 1 | yes |
| Q9HBH0-2 | 2 |
RefSeq proteins (1): NP_061907* (*=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 (13 total): binding site 3, splice variant 2, sequence conflict 2, modified residue 2, chain 1, propeptide 1, short sequence motif 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HBH0-F1 | 92.25 | 0.83 |
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): 26–33; 73–77; 131–134
Post-translational modifications (3): 1, 208, 208
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-9035034 | RHOF GTPase cycle |
MSigDB gene sets: 232 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, RODRIGUES_NTN1_TARGETS_DN, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, AMIT_EGF_RESPONSE_480_MCF10A, RICKMAN_METASTASIS_DN, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, WOO_LIVER_CANCER_RECURRENCE_UP, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION, GOCC_SECRETORY_VESICLE, AACATTC_MIR4093P
GO Biological Process (6): actin filament organization (GO:0007015), signal transduction (GO:0007165), small GTPase-mediated signal transduction (GO:0007264), cell migration (GO:0016477), regulation of actin cytoskeleton organization (GO:0032956), regulation of small GTPase mediated signal transduction (GO:0051056)
GO Molecular Function (5): GTPase activity (GO:0003924), guanyl-nucleotide exchange factor activity (GO:0005085), GTP binding (GO:0005525), protein kinase binding (GO:0019901), nucleotide binding (GO:0000166)
GO Cellular Component (7): cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), secretory granule membrane (GO:0030667), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| RHO GTPase cycle | 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 communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| intracellular signaling cassette | 1 |
| cell motility | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of intracellular signal transduction | 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 |
| heterocyclic compound binding | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| secretory granule | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
3156 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RHOF | DOCK10 | Q96BY6 | 596 |
| RHOF | TMEM120B | A0PK00 | 563 |
| RHOF | DIAPH3 | Q9NSV4 | 478 |
| RHOF | RHOBTB3 | O94955 | 475 |
| RHOF | SOWAHA | Q2M3V2 | 452 |
| RHOF | SYDE2 | Q5VT97 | 445 |
| RHOF | GTPBP4 | Q9BZE4 | 426 |
| RHOF | ARRDC2 | Q8TBH0 | 418 |
| RHOF | RASL11B | Q9BPW5 | 410 |
| RHOF | NIBAN2 | Q96TA1 | 410 |
| RHOF | ARHGDIA | P52565 | 405 |
| RHOF | CNKSR1 | Q969H4 | 402 |
| RHOF | ARHGDIG | Q99819 | 391 |
| RHOF | DOCK5 | Q9H7D0 | 390 |
| RHOF | RHOB | P01121 | 385 |
IntAct
39 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| RAP1GDS1 | DIRAS1 | psi-mi:“MI:0914”(association) | 0.640 |
| DIAPH1 | RHOF | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Tor1aip1 | PEX10 | psi-mi:“MI:0914”(association) | 0.350 |
| Cep78 | ING5 | psi-mi:“MI:0914”(association) | 0.350 |
| GAR1 | TAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| Mta2 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| RALA | AKR7A2 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| MAD2L2 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| TTC9C | PLD2 | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| RHOF | GSTT1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLRD1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| UPK2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LYZL2 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ADAM7 | RIOK3 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-B | RAB29 | psi-mi:“MI:0914”(association) | 0.350 |
| RHOF | STIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| TTC9C | LIPA | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| POLD3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF9B | DNASE2 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | MAP2K7 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.350 |
| MIS18A | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| NPTN | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (686): RHOF (Affinity Capture-RNA), RHOF (Affinity Capture-RNA), RHOF (Affinity Capture-RNA), ANKFY1 (Affinity Capture-Western), RHOF (Two-hybrid), RHOF (Affinity Capture-MS), RHOF (Affinity Capture-MS), RHOF (Affinity Capture-MS), RHOF (Affinity Capture-MS), RHOF (Affinity Capture-MS), RHOF (Affinity Capture-MS), NAA25 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), RHOF (Affinity Capture-RNA)
ESM2 similar proteins: A8NU18, D3Z8L7, G4N1S3, O08989, O14807, O42785, O93856, O95716, P01114, P08647, P0CQ42, P0CQ43, P10301, P10833, P22126, P28775, P35276, P46629, P51146, P51156, P56371, P59190, P61017, P61018, P62070, P62071, P70425, P70426, P97538, Q01387, Q05058, Q12526, Q1RMR4, Q29RR0, Q3SZA1, Q4X241, Q53B90, Q5BJQ5, Q63942, Q86YS6
Diamond homologs: A0A286QZ36, C4YDI6, O00212, O42825, O76321, O77683, O88931, O96390, 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
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
942 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:121779658:AGGCC:A | acceptor_gain | 1.0000 |
| 12:121779659:GGCC:G | acceptor_gain | 1.0000 |
| 12:121779660:GCC:G | acceptor_gain | 1.0000 |
| 12:121779661:CC:C | acceptor_gain | 1.0000 |
| 12:121779661:CCC:C | acceptor_gain | 1.0000 |
| 12:121779662:CC:C | acceptor_gain | 1.0000 |
| 12:121779663:C:CC | acceptor_gain | 1.0000 |
| 12:121779663:C:T | acceptor_gain | 1.0000 |
| 12:121779667:G:C | acceptor_gain | 1.0000 |
| 12:121779667:G:GC | acceptor_gain | 1.0000 |
| 12:121780867:CCCA:C | donor_loss | 1.0000 |
| 12:121780868:CCAC:C | donor_loss | 1.0000 |
| 12:121780869:CA:C | donor_loss | 1.0000 |
| 12:121780870:A:C | donor_loss | 1.0000 |
| 12:121780871:C:CT | donor_loss | 1.0000 |
| 12:121780874:G:A | donor_gain | 1.0000 |
| 12:121780976:C:CT | acceptor_gain | 1.0000 |
| 12:121780976:C:T | acceptor_gain | 1.0000 |
| 12:121781002:AACCA:A | acceptor_gain | 1.0000 |
| 12:121781003:ACCA:A | acceptor_gain | 1.0000 |
| 12:121781004:CCA:C | acceptor_gain | 1.0000 |
| 12:121781004:CCAC:C | acceptor_gain | 1.0000 |
| 12:121781005:CA:C | acceptor_gain | 1.0000 |
| 12:121781005:CACTG:C | acceptor_gain | 1.0000 |
| 12:121781007:C:CC | acceptor_gain | 1.0000 |
| 12:121781008:T:G | acceptor_loss | 1.0000 |
| 12:121781077:CCTCA:C | donor_loss | 1.0000 |
| 12:121781078:CTCA:C | donor_loss | 1.0000 |
| 12:121781079:TCACC:T | donor_loss | 1.0000 |
| 12:121781080:CAC:C | donor_loss | 1.0000 |
AlphaMissense
1363 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:121781006:A:G | W113R | 0.999 |
| 12:121781006:A:T | W113R | 0.999 |
| 12:121781104:G:C | S105R | 0.999 |
| 12:121781104:G:T | S105R | 0.999 |
| 12:121781106:T:G | S105R | 0.999 |
| 12:121793160:T:A | D73V | 0.999 |
| 12:121793160:T:C | D73G | 0.999 |
| 12:121793160:T:G | D73A | 0.999 |
| 12:121779613:G:A | S174F | 0.998 |
| 12:121780947:C:A | K132N | 0.998 |
| 12:121780947:C:G | K132N | 0.998 |
| 12:121780954:C:T | G130D | 0.998 |
| 12:121780983:G:C | F120L | 0.998 |
| 12:121780983:G:T | F120L | 0.998 |
| 12:121780985:A:G | F120L | 0.998 |
| 12:121781128:G:C | C97W | 0.998 |
| 12:121793161:C:G | D73H | 0.998 |
| 12:121793219:G:C | F53L | 0.998 |
| 12:121793219:G:T | F53L | 0.998 |
| 12:121793221:A:G | F53L | 0.998 |
| 12:121793502:G:C | F44L | 0.998 |
| 12:121793502:G:T | F44L | 0.998 |
| 12:121793504:A:G | F44L | 0.998 |
| 12:121793536:G:A | T33I | 0.998 |
| 12:121793538:C:A | K32N | 0.998 |
| 12:121793538:C:G | K32N | 0.998 |
| 12:121793539:T:A | K32M | 0.998 |
| 12:121793540:T:G | K32Q | 0.998 |
| 12:121793542:C:T | G31D | 0.998 |
| 12:121793557:C:A | G26V | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000148507 (12:121795445 G>A), RS1000233999 (12:121782059 C>T), RS1000284728 (12:121781892 T>C,G), RS1000363191 (12:121793293 T>C), RS1000372640 (12:121791770 G>C), RS1000566563 (12:121783365 A>C,G), RS1000585640 (12:121782693 C>T), RS1000618760 (12:121783073 T>A), RS1000727647 (12:121788782 G>A), RS1000794136 (12:121787589 T>C), RS1001384056 (12:121791730 G>C), RS1001401152 (12:121778428 G>A,C), RS1001679201 (12:121786521 C>A), RS1001717895 (12:121788243 T>C), RS1001748925 (12:121788006 T>G)
Disease associations
OMIM: gene MIM:618867 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_196 | Mean platelet volume | 0.000000e+00 |
| GCST004603_124 | Platelet count | 1.000000e-45 |
| GCST004607_85 | Plateletcrit | 6.000000e-81 |
| GCST004616_97 | Platelet distribution width | 1.000000e-184 |
| GCST004619_216 | Reticulocyte fraction of red cells | 3.000000e-09 |
| GCST008167_4 | Mean platelet volume | 8.000000e-11 |
| GCST90002385_7 | High light scatter reticulocyte count | 3.000000e-10 |
| GCST90002386_340 | High light scatter reticulocyte percentage of red cells | 4.000000e-13 |
| GCST90002387_130 | Immature fraction of reticulocytes | 8.000000e-11 |
| GCST90002395_145 | Mean platelet volume | 0.000000e+00 |
| GCST90002400_735 | Plateletcrit | 9.000000e-196 |
| GCST90002401_51 | Platelet distribution width | 2.000000e-212 |
| GCST90002402_206 | Platelet count | 4.000000e-127 |
| GCST90002405_246 | Reticulocyte count | 7.000000e-17 |
| GCST90002406_351 | Reticulocyte fraction of red cells | 3.000000e-22 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007985 | platelet crit |
| EFO:0007984 | platelet component distribution width |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| entinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| beta-lapachone | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| ochratoxin A | affects binding | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases 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, increases expression | 1 |
| beta-hydroxy simvastatin acid | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| PCI 5002 | increases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases response to substance | 1 |
| Troglitazone | increases expression | 1 |
| Adenosine Triphosphate | increases expression, decreases reaction | 1 |
| Benzene | increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Estradiol | increases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | decreases 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.