RHOBTB1
gene geneOn this page
Also known as KIAA0740
Summary
RHOBTB1 (Rho related BTB domain containing 1, HGNC:18738) is a protein-coding gene on chromosome 10q21.2, encoding Rho-related BTB domain-containing protein 1 (O94844).
The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 9886 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 89 total
- MANE Select transcript:
NM_014836
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18738 |
| Approved symbol | RHOBTB1 |
| Name | Rho related BTB domain containing 1 |
| Location | 10q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0740 |
| Ensembl gene | ENSG00000072422 |
| Ensembl biotype | protein_coding |
| OMIM | 607351 |
| Entrez | 9886 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 21 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000337910, ENST00000357917, ENST00000461910, ENST00000483488, ENST00000490827, ENST00000496237, ENST00000864402, ENST00000864403, ENST00000864404, ENST00000864405, ENST00000864406, ENST00000864407, ENST00000864408, ENST00000864409, ENST00000864410, ENST00000864411, ENST00000924652, ENST00000924653, ENST00000924654, ENST00000948403, ENST00000948404, ENST00000948405, ENST00000948406, ENST00000948407, ENST00000948408
RefSeq mRNA: 12 — MANE Select: NM_014836
NM_001242359, NM_001350902, NM_001350903, NM_001350904, NM_001350905, NM_001350906, NM_001350907, NM_001350908, NM_001350909, NM_001350910, NM_001350911, NM_014836
CCDS: CCDS7261
Canonical transcript exons
ENST00000337910 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000705848 | 60886112 | 60886230 |
| ENSE00000705880 | 60892810 | 60892995 |
| ENSE00000705883 | 60910887 | 60910990 |
| ENSE00000985929 | 60888212 | 60889185 |
| ENSE00000985930 | 60874954 | 60875042 |
| ENSE00000985931 | 60872185 | 60872290 |
| ENSE00001173242 | 60941804 | 60941854 |
| ENSE00001173247 | 60943971 | 60944185 |
| ENSE00001461607 | 60869438 | 60871651 |
| ENSE00001461616 | 60911351 | 60911552 |
| ENSE00003693723 | 60877908 | 60878058 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 97.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2030 / max 96.3514, expressed in 1413 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109558 | 3.3958 | 1217 |
| 109557 | 1.2094 | 702 |
| 109560 | 0.5947 | 335 |
| 109563 | 0.4642 | 124 |
| 109561 | 0.3416 | 148 |
| 109559 | 0.1270 | 35 |
| 109562 | 0.0704 | 41 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vastus lateralis | UBERON:0001379 | 97.75 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.57 | gold quality |
| quadriceps femoris | UBERON:0001377 | 97.18 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.12 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.98 | gold quality |
| right uterine tube | UBERON:0001302 | 96.09 | gold quality |
| biceps brachii | UBERON:0001507 | 96.09 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.73 | gold quality |
| placenta | UBERON:0001987 | 95.65 | gold quality |
| muscle organ | UBERON:0001630 | 95.56 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.49 | gold quality |
| muscle of leg | UBERON:0001383 | 95.16 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.08 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.99 | gold quality |
| triceps brachii | UBERON:0001509 | 94.71 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.67 | gold quality |
| diaphragm | UBERON:0001103 | 94.25 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.10 | gold quality |
| pylorus | UBERON:0001166 | 93.37 | gold quality |
| muscle tissue | UBERON:0002385 | 93.35 | gold quality |
| fundus of stomach | UBERON:0001160 | 93.02 | gold quality |
| deltoid | UBERON:0001476 | 92.68 | gold quality |
| body of stomach | UBERON:0001161 | 92.55 | gold quality |
| right testis | UBERON:0004534 | 92.04 | gold quality |
| stomach | UBERON:0000945 | 91.92 | gold quality |
| left testis | UBERON:0004533 | 91.80 | gold quality |
| tibia | UBERON:0000979 | 91.79 | gold quality |
| nephron tubule | UBERON:0001231 | 91.68 | gold quality |
| right coronary artery | UBERON:0001625 | 91.47 | gold quality |
| testis | UBERON:0000473 | 91.09 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 48.63 |
| E-ANND-3 | yes | 6.36 |
| E-GEOD-137537 | yes | 6.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
208 targeting RHOBTB1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
Literature-anchored findings (GeneRIF, showing 6)
- Frequent allelic loss and decreased expression of RHOBTB1 suggested that this gene has a role in tumorigenesis of a subset of HNSCC (Head-Neck Squamous Cell Carcinoma). (PMID:16170569)
- we found that miR-31 acts as an oncogene in colon cancer and identified RhoBTB1 as a new target of miR-31 further study demonstrated that miR-31 contributed to the development of colon cancer at least partly by targeting RhoBTB1. (PMID:23258531)
- RhoBTB1 regulates the integrity of the Golgi complex through METTL7B. RhoBTB1 is required for expression of METTL7B and silencing of either protein leads to fragmentation of the Golgi. Loss of RhoBTB1 expression is linked to Golgi fragmentation in breast cancer cells. Restoration of normal RhoBTB1 expression rescues Golgi morphology and dramatically inhibits breast cancer cell invasion. (PMID:28219369)
- RhoBTB1 associates with ROCK1 and ROCK2 and its association with ROCK1 is via its Rho domain. (PMID:31431478)
- RNA Interference Screening Identifies Novel Roles for RhoBTB1 and RhoBTB3 in Membrane Trafficking Events in Mammalian Cells. (PMID:32354068)
- Structure and Function of RhoBTB1 Required for Substrate Specificity and Cullin-3 Ubiquitination. (PMID:37575477)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rhobtb1 | ENSDARG00000079468 |
| mus_musculus | Rhobtb1 | ENSMUSG00000019944 |
| rattus_norvegicus | Rhobtb1 | ENSRNOG00000000633 |
Paralogs (22): RHOBTB2 (ENSG00000008853), RHOA (ENSG00000067560), CDC42 (ENSG00000070831), 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), RHOD (ENSG00000173156), RHOG (ENSG00000177105)
Protein
Protein identifiers
Rho-related BTB domain-containing protein 1 — O94844 (reviewed: O94844)
All UniProt accessions (1): O94844
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Ubiquitous, with highest levels in skeletal muscle, placenta, testis, stomach, and kidney, followed by uterus and adrenal gland. Expressed in a variety of fetal tissues.
Similarity. Belongs to the small GTPase superfamily. Rho family.
RefSeq proteins (12): NP_001229288, NP_001337831, NP_001337832, NP_001337833, NP_001337834, NP_001337835, NP_001337836, NP_001337837, NP_001337838, NP_001337839, NP_001337840, NP_055651* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR001806 | Small_GTPase | Family |
| IPR003578 | Small_GTPase_Rho | Family |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00071, PF00651
UniProt features (8 total): binding site 3, domain 2, region of interest 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94844-F1 | 82.31 | 0.62 |
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): 21–28; 84–88; 140–143
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013422 | RHOBTB1 GTPase cycle |
MSigDB gene sets: 269 (showing top):
TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, AAGCAAT_MIR137, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, chr10q21, MEF2_02, TAL1ALPHAE47_01, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GHO_ATF5_TARGETS_UP, PAX8_B, NKX62_Q2, SOX9_B1, GOBP_ACTIN_FILAMENT_ORGANIZATION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN
GO Biological Process (7): actin filament organization (GO:0007015), establishment or maintenance of cell polarity (GO:0007163), signal transduction (GO:0007165), small GTPase-mediated signal transduction (GO:0007264), regulation of cell shape (GO:0008360), cortical cytoskeleton organization (GO:0030865), regulation of actin cytoskeleton organization (GO:0032956)
GO Molecular Function (5): GTPase activity (GO:0003924), GTP binding (GO:0005525), protein kinase binding (GO:0019901), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (5): cytoskeleton (GO:0005856), plasma membrane (GO:0005886), endosome membrane (GO:0010008), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHOBTB GTPase Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| actin cytoskeleton organization | 2 |
| cellular process | 2 |
| supramolecular fiber organization | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| intracellular signaling cassette | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| cytoskeleton organization | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| kinase binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2058 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RHOBTB1 | CUL3 | Q13618 | 820 |
| RHOBTB1 | PLIN3 | O60664 | 589 |
| RHOBTB1 | EGR2 | P11161 | 505 |
| RHOBTB1 | RHOBTB3 | O94955 | 411 |
| RHOBTB1 | RHOT2 | Q8IXI1 | 395 |
| RHOBTB1 | SFTPC | P11686 | 388 |
| RHOBTB1 | TMT1B | Q6UX53 | 377 |
| RHOBTB1 | RHOT1 | Q8IXI2 | 376 |
| RHOBTB1 | ARHGDIA | P52565 | 363 |
| RHOBTB1 | BTBD1 | Q9H0C5 | 359 |
| RHOBTB1 | WNK4 | Q96J92 | 358 |
| RHOBTB1 | BTBD3 | Q9Y2F9 | 354 |
| RHOBTB1 | UBFD1 | O14562 | 352 |
| RHOBTB1 | KLHL2 | O95198 | 337 |
| RHOBTB1 | ARHGDIB | P52566 | 324 |
IntAct
52 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| PRKN | RHOBTB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHOBTB1 | PRKCA | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHOBTB1 | YWHAG | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHOBTB1 | SETDB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHOBTB1 | KAT5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | RHOBTB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CUL3 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
| APBB3 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
| PSG8 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE2M | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (462): Lrrc41 (Affinity Capture-Western), RHOBTB1 (Affinity Capture-MS), RHOBTB1 (Synthetic Lethality), RHOBTB1 (Affinity Capture-MS), RHOBTB1 (Affinity Capture-Western), RHOBTB1 (Affinity Capture-MS), BPIFA2 (Affinity Capture-MS), CST2 (Affinity Capture-MS), AMY1C (Affinity Capture-MS), CST1 (Affinity Capture-MS), RHOBTB1 (Affinity Capture-MS), RHOBTB1 (Affinity Capture-MS), IGHA2 (Affinity Capture-MS), RHOBTB1 (Affinity Capture-MS), CST4 (Affinity Capture-MS)
ESM2 similar proteins: A0JNA8, A2AFR3, A2AWP8, F1LXF1, O15034, O94844, O94967, O95267, P11274, P28028, Q01826, Q08BT5, Q14161, Q14CM0, Q15139, Q3UGM2, Q3UHE1, Q4R4I0, Q5R5M3, Q5VUG0, Q5XIS9, Q60611, Q62101, Q66H91, Q68FF6, Q6NZQ4, Q6PAJ1, Q6PB44, Q6ZW49, Q6ZWH5, Q80U28, Q8BWW9, Q8BZ03, Q8CGF6, Q8TCU6, Q8VDD9, Q8VI24, Q96GD3, Q9BZ71, Q9BZL6
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
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RHOBTB1 | “down-regulates quantity by destabilization” | PDE5A | binding |
| RHOBTB1 | “up-regulates activity” | “Cullin 3-RBX1-Skp1” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 6 | 74.5× | 3e-08 |
| Formation of TC-NER Pre-Incision Complex | 6 | 55.2× | 1e-07 |
| Cargo recognition for clathrin-mediated endocytosis | 6 | 27.3× | 4e-06 |
| Neddylation | 8 | 16.5× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 6 | 175.5× | 1e-10 |
| protein neddylation | 6 | 131.7× | 5e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2339 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:60871251:T:C | donor_gain | 1.0000 |
| 10:60871476:T:TA | donor_gain | 1.0000 |
| 10:60871647:GTTGT:G | acceptor_gain | 1.0000 |
| 10:60871648:TTGT:T | acceptor_gain | 1.0000 |
| 10:60871649:TGT:T | acceptor_gain | 1.0000 |
| 10:60871652:C:A | acceptor_loss | 1.0000 |
| 10:60871652:C:CC | acceptor_gain | 1.0000 |
| 10:60871653:T:A | acceptor_loss | 1.0000 |
| 10:60872291:C:CC | acceptor_gain | 1.0000 |
| 10:60874205:AGTTT:A | donor_gain | 1.0000 |
| 10:60874294:A:AC | donor_gain | 1.0000 |
| 10:60874295:C:CC | donor_gain | 1.0000 |
| 10:60874295:CA:C | donor_gain | 1.0000 |
| 10:60874295:CACT:C | donor_gain | 1.0000 |
| 10:60874950:AAAC:A | donor_loss | 1.0000 |
| 10:60874951:AAC:A | donor_loss | 1.0000 |
| 10:60874952:A:C | donor_loss | 1.0000 |
| 10:60875038:CTGTT:C | acceptor_gain | 1.0000 |
| 10:60875039:TGTT:T | acceptor_gain | 1.0000 |
| 10:60875042:TCTG:T | acceptor_loss | 1.0000 |
| 10:60875043:C:CC | acceptor_gain | 1.0000 |
| 10:60875043:CTGGG:C | acceptor_loss | 1.0000 |
| 10:60875044:T:G | acceptor_loss | 1.0000 |
| 10:60877076:AACT:A | donor_gain | 1.0000 |
| 10:60886111:CCTCA:C | donor_gain | 1.0000 |
| 10:60886226:CACGT:C | acceptor_gain | 1.0000 |
| 10:60886228:CGT:C | acceptor_gain | 1.0000 |
| 10:60886229:GTC:G | acceptor_loss | 1.0000 |
| 10:60886230:TCT:T | acceptor_loss | 1.0000 |
| 10:60886231:C:A | acceptor_loss | 1.0000 |
AlphaMissense
4613 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:60871610:A:G | W655R | 1.000 |
| 10:60871610:A:T | W655R | 1.000 |
| 10:60871622:A:G | W651R | 1.000 |
| 10:60871622:A:T | W651R | 1.000 |
| 10:60889045:A:G | L208P | 1.000 |
| 10:60889054:C:G | R205P | 1.000 |
| 10:60889101:G:C | S189R | 1.000 |
| 10:60889101:G:T | S189R | 1.000 |
| 10:60889103:T:G | S189R | 1.000 |
| 10:60892859:G:T | R145S | 1.000 |
| 10:60892861:A:G | L144P | 1.000 |
| 10:60892872:G:C | C140W | 1.000 |
| 10:60892876:C:T | G139E | 1.000 |
| 10:60892877:C:A | G139W | 1.000 |
| 10:60892877:C:G | G139R | 1.000 |
| 10:60892877:C:T | G139R | 1.000 |
| 10:60892926:C:A | W122C | 1.000 |
| 10:60892926:C:G | W122C | 1.000 |
| 10:60892928:A:G | W122R | 1.000 |
| 10:60892928:A:T | W122R | 1.000 |
| 10:60892974:A:C | C106W | 1.000 |
| 10:60892975:C:T | C106Y | 1.000 |
| 10:60892976:A:G | C106R | 1.000 |
| 10:60892981:A:T | V104D | 1.000 |
| 10:60892987:A:T | V102D | 1.000 |
| 10:60892990:T:A | D101V | 1.000 |
| 10:60892993:G:A | S100F | 1.000 |
| 10:60910894:A:C | Y97D | 1.000 |
| 10:60910894:A:G | Y97H | 1.000 |
| 10:60910896:G:T | A96E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007128 (10:60914072 G>C,T), RS1000011146 (10:60948545 C>T), RS1000014646 (10:60971632 T>C), RS1000046202 (10:60913582 C>T), RS1000059417 (10:60914371 C>T), RS1000061780 (10:60942155 T>C), RS1000070614 (10:60919765 C>T), RS1000073817 (10:60874473 C>T), RS1000074077 (10:60954473 A>G,T), RS1000119245 (10:60863318 T>A), RS1000125929 (10:60937151 G>A), RS1000136301 (10:60996686 C>T), RS1000141881 (10:60921243 T>C), RS1000157209 (10:60936907 C>T), RS1000162138 (10:60937808 T>C,G)
Disease associations
OMIM: gene MIM:607351 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000394_2 | Diastolic blood pressure | 1.000000e-09 |
| GCST002788_4 | Milk allergy | 5.000000e-06 |
| GCST002790_4 | Food allergy | 7.000000e-06 |
| GCST004766_13 | Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes | 8.000000e-07 |
| GCST008153_34 | Lean body mass | 7.000000e-06 |
| GCST009391_1621 | Metabolite levels | 5.000000e-06 |
| GCST012490_241 | Femur bone mineral density x serum urate levels interaction | 8.000000e-10 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0007019 | milk allergy measurement |
| EFO:0007016 | food allergy measurement |
| EFO:0007681 | triglyceride change measurement |
| EFO:0004995 | lean body mass |
| EFO:0010379 | phosphatidylcholine 36:1 measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
68 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases methylation | 8 |
| Benzo(a)pyrene | decreases expression, increases mutagenesis, affects methylation | 7 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 5 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, increases expression | 5 |
| bisphenol A | increases methylation, increases expression, affects expression, affects cotreatment | 4 |
| Cyclosporine | decreases expression | 4 |
| Air Pollutants | decreases expression, affects cotreatment, increases abundance, increases oxidation | 3 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, decreases abundance, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| epigallocatechin gallate | increases expression, affects cotreatment, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| afimoxifene | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| muconaldehyde | decreases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects cotreatment, decreases expression, affects response to substance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| bisphenol S | decreases methylation | 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.