RIPOR1
gene geneOn this page
Also known as FLJ13725
Summary
RIPOR1 (RHO family interacting cell polarization regulator 1, HGNC:25836) is a protein-coding gene on chromosome 16q22.1, encoding Rho family-interacting cell polarization regulator 1 (Q6ZS17). Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration.
Enables 14-3-3 protein binding activity. Involved in several processes, including establishment of Golgi localization; negative regulation of Rho guanyl-nucleotide exchange factor activity; and negative regulation of Rho protein signal transduction. Located in several cellular components, including Golgi apparatus; cell leading edge; and cytosol.
Source: NCBI Gene 79567 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 200 total
- MANE Select transcript:
NM_024519
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25836 |
| Approved symbol | RIPOR1 |
| Name | RHO family interacting cell polarization regulator 1 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13725 |
| Ensembl gene | ENSG00000039523 |
| Ensembl biotype | protein_coding |
| OMIM | 619842 |
| Entrez | 79567 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 31 protein_coding, 7 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000042381, ENST00000379312, ENST00000422602, ENST00000428437, ENST00000540839, ENST00000561534, ENST00000562116, ENST00000562755, ENST00000564616, ENST00000565176, ENST00000565190, ENST00000565679, ENST00000566522, ENST00000566559, ENST00000566730, ENST00000566815, ENST00000566907, ENST00000566920, ENST00000568959, ENST00000569179, ENST00000569253, ENST00000569474, ENST00000569733, ENST00000860989, ENST00000860990, ENST00000860991, ENST00000860992, ENST00000860993, ENST00000860994, ENST00000860995, ENST00000860996, ENST00000860997, ENST00000860998, ENST00000860999, ENST00000861000, ENST00000861001, ENST00000861002, ENST00000861003, ENST00000965781, ENST00000965782
RefSeq mRNA: 5 — MANE Select: NM_024519
NM_001193522, NM_001193523, NM_001193524, NM_001410885, NM_024519
CCDS: CCDS10840, CCDS54026, CCDS54027, CCDS54028, CCDS92176
Canonical transcript exons
ENST00000042381 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001380181 | 67528829 | 67528914 |
| ENSE00003505157 | 67546366 | 67546786 |
| ENSE00003539957 | 67538424 | 67538550 |
| ENSE00003801384 | 67540300 | 67540363 |
| ENSE00003801433 | 67544956 | 67545117 |
| ENSE00003801861 | 67539846 | 67539899 |
| ENSE00003803162 | 67545664 | 67545860 |
| ENSE00003803502 | 67540579 | 67540704 |
| ENSE00003803768 | 67543348 | 67543469 |
| ENSE00003804977 | 67539728 | 67539751 |
| ENSE00003805247 | 67540053 | 67540205 |
| ENSE00003805827 | 67545376 | 67545534 |
| ENSE00003805966 | 67544299 | 67544431 |
| ENSE00003806300 | 67540458 | 67540501 |
| ENSE00003806516 | 67546141 | 67546231 |
| ENSE00003806764 | 67538990 | 67539068 |
| ENSE00003806783 | 67541430 | 67541578 |
| ENSE00003806883 | 67541653 | 67541782 |
| ENSE00003807048 | 67545949 | 67546032 |
| ENSE00003807054 | 67538672 | 67538824 |
| ENSE00003809764 | 67541867 | 67543264 |
| ENSE00003810335 | 67544695 | 67544830 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 97.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.5908 / max 908.5516, expressed in 1805 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154641 | 19.8221 | 1778 |
| 154645 | 6.0305 | 1350 |
| 154654 | 2.1436 | 916 |
| 154655 | 1.1631 | 463 |
| 154656 | 0.9720 | 359 |
| 154657 | 0.3136 | 109 |
| 154643 | 0.0534 | 9 |
| 154639 | 0.0371 | 9 |
| 154642 | 0.0308 | 12 |
| 154640 | 0.0167 | 6 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 97.83 | gold quality |
| right lung | UBERON:0002167 | 97.50 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.63 | gold quality |
| renal glomerulus | UBERON:0000074 | 96.53 | gold quality |
| spleen | UBERON:0002106 | 96.47 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.46 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 96.28 | gold quality |
| right coronary artery | UBERON:0001625 | 96.22 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.19 | gold quality |
| upper lobe of lung | UBERON:0008948 | 96.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.07 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.03 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.98 | gold quality |
| ascending aorta | UBERON:0001496 | 95.78 | gold quality |
| cortical plate | UBERON:0005343 | 95.74 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.73 | gold quality |
| body of uterus | UBERON:0009853 | 95.73 | gold quality |
| left uterine tube | UBERON:0001303 | 95.68 | gold quality |
| omental fat pad | UBERON:0010414 | 95.51 | gold quality |
| sural nerve | UBERON:0015488 | 95.49 | gold quality |
| peritoneum | UBERON:0002358 | 95.47 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.43 | gold quality |
| lower esophagus | UBERON:0013473 | 95.41 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.38 | gold quality |
| aorta | UBERON:0000947 | 95.31 | gold quality |
| left coronary artery | UBERON:0001626 | 95.28 | gold quality |
| cortex of kidney | UBERON:0001225 | 95.25 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.22 | gold quality |
| endocervix | UBERON:0000458 | 95.19 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.17 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 28.50 |
| E-ANND-3 | yes | 12.95 |
| E-MTAB-9543 | yes | 7.72 |
| E-CURD-112 | no | 2.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting RIPOR1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-10522-5P | 99.26 | 68.50 | 2087 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
| HSA-MIR-3688-5P | 99.12 | 69.67 | 1091 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
Literature-anchored findings (GeneRIF, showing 1)
- These results reveal a previously unidentified pathway downstream of RHO that regulates the polarity of migrating cells through Golgi reorientation in a FAM65A-, CCM3- and MST3- and MST4-dependent manner. (PMID:27807006)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ripor1 | ENSDARG00000062178 |
| mus_musculus | Ripor1 | ENSMUSG00000038604 |
| rattus_norvegicus | Ripor1 | ENSRNOG00000017604 |
| caenorhabditis_elegans | WBGENE00045063 |
Paralogs (2): RIPOR3 (ENSG00000042062), RIPOR2 (ENSG00000111913)
Protein
Protein identifiers
Rho family-interacting cell polarization regulator 1 — Q6ZS17 (reviewed: Q6ZS17)
All UniProt accessions (12): A0A0A0MTL6, A0A0G2JLA4, Q6ZS17, H3BMG9, H3BP86, H3BQI5, H3BS40, H3BSV5, H3BSX9, H3BU12, H3BUP6, H3BV02
UniProt curated annotations — full annotation on UniProt →
Function. Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration. Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation. Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation.
Subunit / interactions. Interacts (via N-terminus) with RHOA (GTP-bound form); this interaction links active RHOA to STK24 and STK26 kinases. Interacts with RHOB. Interacts with RHOC. Interacts (via C-terminus) with PDCD10; this interaction occurs in a Rho-independent manner. Interacts (via C-terminus) with STK24; this interaction occurs in a PDCD10-dependent and Rho-independent manner. Interacts (via C-terminus) with STK26; this interaction occurs in a PDCD10-dependent and Rho-independent manner. Interacts (via N-terminus) with 14-3-3 proteins; these interactions occur in a Rho-dependent manner.
Subcellular location. Cytoplasm. Golgi apparatus.
Similarity. Belongs to the RIPOR family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZS17-1 | 1 | yes |
| Q6ZS17-2 | 2 | |
| Q6ZS17-3 | 3 | |
| Q6ZS17-4 | 4 |
RefSeq proteins (5): NP_001180451, NP_001180452, NP_001180453, NP_001397814, NP_078795* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR026136 | RIPOR3 | Family |
| IPR031780 | FAM65_N | Domain |
Pfam: PF15903
UniProt features (29 total): compositionally biased region 8, modified residue 8, sequence conflict 5, region of interest 3, splice variant 3, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZS17-F1 | 63.47 | 0.33 |
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 (8): 22, 349, 351, 355, 456, 459, 874, 875
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 231 (showing top):
ATF_B, WANG_CLIM2_TARGETS_UP, chr16q22, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_PEPTIDE, RORA1_01, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, AP4_Q6, MEF2_02, GGGTGGRR_PAX4_03
GO Biological Process (10): Rho protein signal transduction (GO:0007266), cellular response to starvation (GO:0009267), response to wounding (GO:0009611), positive regulation of cell migration (GO:0030335), protein localization to Golgi apparatus (GO:0034067), negative regulation of Rho protein signal transduction (GO:0035024), establishment of Golgi localization (GO:0051683), positive regulation of intracellular protein transport (GO:0090316), cellular response to chemokine (GO:1990869), negative regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001107)
GO Molecular Function (2): 14-3-3 protein binding (GO:0071889), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), vesicle membrane (GO:0012506), membrane (GO:0016020), cell leading edge (GO:0031252), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| small GTPase-mediated signal transduction | 1 |
| cellular response to nutrient levels | 1 |
| cellular response to stress | 1 |
| response to starvation | 1 |
| response to stress | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| protein localization to organelle | 1 |
| Rho protein signal transduction | 1 |
| regulation of Rho protein signal transduction | 1 |
| negative regulation of small GTPase mediated signal transduction | 1 |
| Golgi localization | 1 |
| establishment of localization in cell | 1 |
| establishment of organelle localization | 1 |
| intracellular protein transport | 1 |
| positive regulation of intracellular transport | 1 |
| regulation of intracellular protein transport | 1 |
| positive regulation of protein transport | 1 |
| cellular response to cytokine stimulus | 1 |
| response to chemokine | 1 |
| negative regulation of guanyl-nucleotide exchange factor activity | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| vesicle | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1010 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RIPOR1 | RHOC | P08134 | 731 |
| RIPOR1 | RHOB | P01121 | 712 |
| RIPOR1 | RHOA | P06749 | 562 |
| RIPOR1 | R3HDM2 | Q9Y2K5 | 485 |
| RIPOR1 | STK26 | Q9P289 | 482 |
| RIPOR1 | C16orf86 | Q6ZW13 | 472 |
| RIPOR1 | STRN | O43815 | 469 |
| RIPOR1 | PDCD10 | Q9BUL8 | 446 |
| RIPOR1 | STRIP1 | Q5VSL9 | 426 |
| RIPOR1 | NPEPL1 | Q8NDH3 | 417 |
| RIPOR1 | NAA20 | P61599 | 410 |
| RIPOR1 | STK25 | O00506 | 409 |
| RIPOR1 | STRIP2 | Q9ULQ0 | 401 |
| RIPOR1 | LY6G5C | Q5SRR4 | 397 |
| RIPOR1 | CRNKL1 | Q9BZJ0 | 390 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RHOC | RAP1GDS1 | psi-mi:“MI:0914”(association) | 0.730 |
| YWHAB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| RIPOR1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| MAP1LC3B | RIPOR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RIPOR1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| RHOA | TAX1BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPOR1 | STK25 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB3L2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2B | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPOR1 | MYO7A | psi-mi:“MI:0915”(physical association) | 0.000 |
| FMR1 | RIPOR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RIPOR1 | purCD | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (25): FAM65A (Affinity Capture-MS), MYO7A (Affinity Capture-MS), FAM65A (Affinity Capture-RNA), FAM65A (Affinity Capture-RNA), FAM65A (Affinity Capture-RNA), PDCD10 (Affinity Capture-MS), STK25 (Affinity Capture-MS), STK26 (Affinity Capture-MS), MPP5 (Affinity Capture-MS), STK24 (Affinity Capture-MS), FAM65A (Affinity Capture-MS), FAM65A (Affinity Capture-MS), FAM65A (Affinity Capture-MS), FAM65A (Affinity Capture-MS), FAM65A (Affinity Capture-RNA)
ESM2 similar proteins: A1L3I3, A2AWH2, A2BDP1, A4IFM1, A4IHZ3, A5A6P7, A7E2V4, B1AL88, F1N4E5, O14525, O35181, O75949, O94901, O94983, P13265, P51654, P56975, P78333, Q07105, Q0VCT2, Q29016, Q2F7Z7, Q3T0Q2, Q3V140, Q4FZU8, Q4R8C8, Q5HZE8, Q5PQX1, Q5R7A3, Q5R800, Q60485, Q61137, Q68FE6, Q6H9L7, Q6P7B4, Q6V9Y8, Q6ZS17, Q7TNI2, Q80Y50, Q8BHP7
Diamond homologs: A1L3T7, A9ZLX4, Q1LU99, Q3B7M3, Q4FZU8, Q5EB20, Q5F3L9, Q68FE6, Q6ZS17, Q7TP54, Q80U16, Q96MK2, Q9Y4F9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
200 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 165 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3306 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:67528910:GCCAT:G | donor_gain | 1.0000 |
| 16:67528915:G:GG | donor_gain | 1.0000 |
| 16:67538547:CCAGG:C | donor_loss | 1.0000 |
| 16:67538548:CAG:C | donor_loss | 1.0000 |
| 16:67538549:AGGTA:A | donor_loss | 1.0000 |
| 16:67538551:G:GC | donor_loss | 1.0000 |
| 16:67538552:T:G | donor_loss | 1.0000 |
| 16:67538822:GAC:G | donor_gain | 1.0000 |
| 16:67538825:G:GG | donor_gain | 1.0000 |
| 16:67538891:G:GT | donor_gain | 1.0000 |
| 16:67539044:G:GT | donor_gain | 1.0000 |
| 16:67539064:GCTTG:G | donor_gain | 1.0000 |
| 16:67539718:A:AG | acceptor_gain | 1.0000 |
| 16:67539719:C:G | acceptor_gain | 1.0000 |
| 16:67539844:A:AG | acceptor_gain | 1.0000 |
| 16:67539845:G:GG | acceptor_gain | 1.0000 |
| 16:67539845:GCAA:G | acceptor_gain | 1.0000 |
| 16:67539848:A:G | acceptor_gain | 1.0000 |
| 16:67539895:GCAAG:G | donor_gain | 1.0000 |
| 16:67539898:AGGT:A | donor_loss | 1.0000 |
| 16:67539900:G:GA | donor_loss | 1.0000 |
| 16:67539900:G:GG | donor_gain | 1.0000 |
| 16:67539901:T:G | donor_loss | 1.0000 |
| 16:67540043:A:AG | acceptor_gain | 1.0000 |
| 16:67540044:C:G | acceptor_gain | 1.0000 |
| 16:67540051:A:AG | acceptor_gain | 1.0000 |
| 16:67540052:G:GA | acceptor_gain | 1.0000 |
| 16:67540052:GATC:G | acceptor_gain | 1.0000 |
| 16:67540202:GGAG:G | donor_gain | 1.0000 |
| 16:67540203:GAGG:G | donor_gain | 1.0000 |
AlphaMissense
7843 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:67540469:T:C | F219L | 1.000 |
| 16:67540471:C:A | F219L | 1.000 |
| 16:67540471:C:G | F219L | 1.000 |
| 16:67540473:C:A | A220D | 1.000 |
| 16:67540606:T:A | W239R | 1.000 |
| 16:67540606:T:C | W239R | 1.000 |
| 16:67540648:T:A | W253R | 1.000 |
| 16:67540648:T:C | W253R | 1.000 |
| 16:67541557:T:C | L314P | 1.000 |
| 16:67541563:T:C | L316P | 1.000 |
| 16:67541574:T:A | W320R | 1.000 |
| 16:67541574:T:C | W320R | 1.000 |
| 16:67538809:T:C | L85P | 0.999 |
| 16:67538821:T:C | L89P | 0.999 |
| 16:67539028:T:C | L103P | 0.999 |
| 16:67539744:T:C | L122P | 0.999 |
| 16:67539880:T:C | L136P | 0.999 |
| 16:67539885:T:C | F138L | 0.999 |
| 16:67539887:C:A | F138L | 0.999 |
| 16:67539887:C:G | F138L | 0.999 |
| 16:67540346:T:C | F209S | 0.999 |
| 16:67540466:G:C | G218R | 0.999 |
| 16:67540467:G:A | G218D | 0.999 |
| 16:67540479:T:C | L222P | 0.999 |
| 16:67540496:T:C | Y228H | 0.999 |
| 16:67540496:T:G | Y228D | 0.999 |
| 16:67540613:T:C | L241P | 0.999 |
| 16:67540618:G:C | G243R | 0.999 |
| 16:67540619:G:A | G243D | 0.999 |
| 16:67540650:G:C | W253C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000046238 (16:67517359 A>G), RS1000080601 (16:67519734 G>A), RS1000190522 (16:67532917 T>C), RS1000252707 (16:67524082 C>T), RS1000329784 (16:67536829 A>G), RS1000458619 (16:67529648 A>C), RS1000510276 (16:67531427 C>G), RS1000578530 (16:67531896 T>C,G), RS1000584742 (16:67522367 T>C), RS1000616170 (16:67535233 G>A,T), RS1000708740 (16:67531044 G>A,C), RS1000873662 (16:67539215 T>G), RS1001141901 (16:67537857 C>A,G,T), RS1001187947 (16:67528836 G>C,T), RS1001351597 (16:67522910 G>C)
Disease associations
OMIM: gene MIM:619842 | 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 |
|---|---|---|
| GCST006979_628 | Heel bone mineral density | 5.000000e-15 |
| GCST010002_113 | Refractive error | 2.000000e-14 |
| GCST010083_158 | Hemoglobin levels | 1.000000e-10 |
| GCST90002388_169 | Lymphocyte count | 7.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| lead acetate | increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | decreases expression | 1 |
| Cisplatin | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Vanadates | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2DV | Abcam HeLa RIPOR1 KO | Cancer cell line | Female |
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.