RASL12
geneOn this page
Also known as RIS
Summary
RASL12 (RAS like family 12, HGNC:30289) is a protein-coding gene on chromosome 15q22.31, encoding Ras-like protein family member 12 (Q9NYN1).
Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be active in plasma membrane.
Source: NCBI Gene 51285 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 133 total — 1 likely-pathogenic
- MANE Select transcript:
NM_016563
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30289 |
| Approved symbol | RASL12 |
| Name | RAS like family 12 |
| Location | 15q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RIS |
| Ensembl gene | ENSG00000103710 |
| Ensembl biotype | protein_coding |
| Entrez | 51285 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000220062, ENST00000421977, ENST00000434605
RefSeq mRNA: 3 — MANE Select: NM_016563
NM_001307930, NM_001379429, NM_016563
CCDS: CCDS10200, CCDS76769, CCDS92017
Canonical transcript exons
ENST00000220062 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000693607 | 65058427 | 65058617 |
| ENSE00000693610 | 65059345 | 65059418 |
| ENSE00000693613 | 65065217 | 65065273 |
| ENSE00001883781 | 65053337 | 65055274 |
| ENSE00001937611 | 65067733 | 65067991 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 98.79.
FANTOM5 (CAGE): breadth broad, TPM avg 2.3414 / max 99.0472, expressed in 379 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150518 | 1.5616 | 342 |
| 150520 | 0.5110 | 158 |
| 150519 | 0.1370 | 77 |
| 150517 | 0.1319 | 83 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| popliteal artery | UBERON:0002250 | 98.79 | gold quality |
| tibial artery | UBERON:0007610 | 98.79 | gold quality |
| saphenous vein | UBERON:0007318 | 98.52 | gold quality |
| right coronary artery | UBERON:0001625 | 98.31 | gold quality |
| aorta | UBERON:0000947 | 97.96 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.97 | gold quality |
| ascending aorta | UBERON:0001496 | 96.94 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.76 | gold quality |
| left coronary artery | UBERON:0001626 | 96.61 | gold quality |
| coronary artery | UBERON:0001621 | 96.60 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.42 | gold quality |
| lower esophagus | UBERON:0013473 | 96.36 | gold quality |
| left uterine tube | UBERON:0001303 | 95.46 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.21 | gold quality |
| urethra | UBERON:0000057 | 95.14 | gold quality |
| body of uterus | UBERON:0009853 | 94.08 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.67 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.48 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.07 | gold quality |
| blood vessel layer | UBERON:0004797 | 92.89 | gold quality |
| nipple | UBERON:0002030 | 92.10 | gold quality |
| endocervix | UBERON:0000458 | 91.22 | gold quality |
| vena cava | UBERON:0004087 | 90.72 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.43 | gold quality |
| myometrium | UBERON:0001296 | 90.20 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.13 | gold quality |
| prostate gland | UBERON:0002367 | 89.86 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.58 | gold quality |
| hypothalamus | UBERON:0001898 | 89.37 | gold quality |
| seminal vesicle | UBERON:0000998 | 89.32 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.80 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TSC22D3
miRNA regulators (miRDB)
79 targeting RASL12, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasl12 | ENSDARG00000002701 |
| mus_musculus | Rasl12 | ENSMUSG00000041696 |
| rattus_norvegicus | Rasl12 | ENSRNOG00000032339 |
Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), RIT2 (ENSG00000152214), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), GEM (ENSG00000164949), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)
Protein
Protein identifiers
Ras-like protein family member 12 — Q9NYN1 (reviewed: Q9NYN1)
Alternative names: Ras-like protein Ris
All UniProt accessions (1): Q9NYN1
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the small GTPase superfamily. Ras family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NYN1-1 | 1 | yes |
| Q9NYN1-2 | 2 | |
| Q9NYN1-3 | 3 |
RefSeq proteins (3): NP_001294859, NP_001366358, NP_057647* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR051065 | Ras-related_GTPase | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (19 total): strand 7, helix 6, binding site 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3C5C | X-RAY DIFFRACTION | 1.85 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYN1-F1 | 79.03 | 0.60 |
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): 27–34; 74–78; 134–137
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 100 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, DORN_ADENOVIRUS_INFECTION_12HR_UP, LFA1_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, AP4_Q6, CHANDRAN_METASTASIS_DN, CAGCTG_AP4_Q5, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, INAMURA_LUNG_CANCER_SCC_DN, DORN_ADENOVIRUS_INFECTION_32HR_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, ROSS_AML_WITH_PML_RARA_FUSION
GO Biological Process (0):
GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), GDP binding (GO:0019003), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (1): plasma membrane (GO:0005886)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| guanyl ribonucleotide binding | 2 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1563 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASL12 | RASL10A | Q92737 | 494 |
| RASL12 | ARL5A | Q9Y689 | 475 |
| RASL12 | RASL10B | Q96S79 | 427 |
| RASL12 | CHRNA7 | P36544 | 404 |
| RASL12 | OR52D1 | Q9H346 | 371 |
| RASL12 | PFDN1 | O60925 | 368 |
| RASL12 | ZNF853 | P0CG23 | 355 |
| RASL12 | BRD10 | Q5HYC2 | 348 |
| RASL12 | SLC26A1 | Q9H2B4 | 333 |
| RASL12 | INTS14 | Q96SY0 | 329 |
| RASL12 | TMC5 | Q6UXY8 | 311 |
| RASL12 | RASSF7 | Q02833 | 307 |
| RASL12 | RASGRP3 | Q8IV61 | 306 |
| RASL12 | RHOH | Q15669 | 304 |
| RASL12 | KCNH8 | Q96L42 | 297 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RASL12 | FHL2 | psi-mi:“MI:0914”(association) | 0.740 |
| FHL2 | RASL12 | psi-mi:“MI:0915”(physical association) | 0.740 |
| FHL3 | RASL12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RASL12 | RAP1GDS1 | psi-mi:“MI:0914”(association) | 0.350 |
| RASL12 | FHL3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): ARHGEF17 (Affinity Capture-MS), FHL2 (Affinity Capture-MS), RASL12 (Biochemical Activity), ARHGEF17 (Affinity Capture-MS), FHL2 (Affinity Capture-MS), FHL2 (Two-hybrid), FHL3 (Two-hybrid), RASL12 (Affinity Capture-MS), RASL12 (Affinity Capture-MS), RASL12 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), FHL2 (Affinity Capture-MS), ARHGEF17 (Affinity Capture-MS), APP (Reconstituted Complex)
ESM2 similar proteins: A2YEQ6, O35963, O74536, O95661, O95755, P25378, P35283, P35284, P51156, P52198, P97950, Q00246, Q02723, Q06AU4, Q08AT1, Q08E00, Q09178, Q14088, Q20365, Q29RR0, Q3SXC5, Q3UHC2, Q504M8, Q53S08, Q5H913, Q5JT25, Q5R615, Q5U1Y1, Q5ZHV1, Q62120, Q62689, Q64008, Q69XM7, Q6IQ22, Q75R65, Q7SZ59, Q7TN89, Q7Z444, Q8C0V7, Q8CAM5
Diamond homologs: A1DZY4, A6QP66, A8NU18, C4YKT4, O08989, O14807, O35929, O88667, O93856, O94363, P01119, P03967, P08645, P08647, P0CY32, P10114, P10536, P11233, P11234, P15064, P17609, P22124, P22126, P22278, P22279, P22280, P28775, P32254, P36860, P36863, P48555, P59279, P61105, P61225, P61226, P61227, P62070, P62071, P63320, P63321
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
133 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 98 |
| Likely benign | 30 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 804474 | NM_178859.4(SLC51B):c.84del (p.Arg29fs) | Likely pathogenic |
SpliceAI
847 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:65058422:CTCA:C | donor_loss | 1.0000 |
| 15:65058424:CACC:C | donor_loss | 1.0000 |
| 15:65058426:C:CG | donor_loss | 1.0000 |
| 15:65058567:C:CT | acceptor_gain | 1.0000 |
| 15:65058640:C:T | acceptor_gain | 1.0000 |
| 15:65067728:CTCA:C | donor_loss | 1.0000 |
| 15:65067729:TCACC:T | donor_loss | 1.0000 |
| 15:65067730:CA:C | donor_loss | 1.0000 |
| 15:65067732:CCAGA:C | donor_gain | 1.0000 |
| 15:65055270:CTTGC:C | acceptor_gain | 0.9900 |
| 15:65058425:A:AC | donor_gain | 0.9900 |
| 15:65058426:C:CC | donor_gain | 0.9900 |
| 15:65058640:C:CT | acceptor_gain | 0.9900 |
| 15:65058643:C:CT | acceptor_gain | 0.9900 |
| 15:65058644:G:T | acceptor_gain | 0.9900 |
| 15:65059417:CT:C | acceptor_gain | 0.9900 |
| 15:65059419:C:CC | acceptor_gain | 0.9900 |
| 15:65065274:C:CC | acceptor_gain | 0.9900 |
| 15:65067727:ACTCA:A | donor_loss | 0.9900 |
| 15:65067731:A:AC | donor_gain | 0.9900 |
| 15:65067732:C:CC | donor_gain | 0.9900 |
| 15:65055989:C:CT | donor_gain | 0.9800 |
| 15:65058426:CCT:C | donor_gain | 0.9800 |
| 15:65058568:A:T | acceptor_gain | 0.9800 |
| 15:65058613:GTGTC:G | acceptor_gain | 0.9800 |
| 15:65058616:TC:T | acceptor_gain | 0.9800 |
| 15:65058617:CC:C | acceptor_gain | 0.9800 |
| 15:65065211:TCTTA:T | donor_loss | 0.9800 |
| 15:65065212:CTT:C | donor_loss | 0.9800 |
| 15:65065213:TTACC:T | donor_loss | 0.9800 |
AlphaMissense
1734 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:65065242:A:C | F45L | 1.000 |
| 15:65065242:A:T | F45L | 1.000 |
| 15:65065244:A:G | F45L | 1.000 |
| 15:65054911:G:C | F263L | 0.999 |
| 15:65054911:G:T | F263L | 0.999 |
| 15:65054913:A:G | F263L | 0.999 |
| 15:65058447:C:A | K135N | 0.999 |
| 15:65058447:C:G | K135N | 0.999 |
| 15:65058449:T:C | K135E | 0.999 |
| 15:65059359:C:G | D74H | 0.999 |
| 15:65059364:A:T | V72D | 0.999 |
| 15:65065232:A:G | Y49H | 0.999 |
| 15:65065243:A:G | F45S | 0.999 |
| 15:65065255:A:G | L41P | 0.999 |
| 15:65065258:A:G | F40S | 0.999 |
| 15:65065270:A:G | L36P | 0.999 |
| 15:65067735:G:A | S34F | 0.999 |
| 15:65054906:A:G | I265T | 0.998 |
| 15:65055173:A:G | F176S | 0.998 |
| 15:65055206:G:T | A165D | 0.998 |
| 15:65055209:G:A | S164F | 0.998 |
| 15:65055255:C:G | G149R | 0.998 |
| 15:65055269:A:T | V144D | 0.998 |
| 15:65058450:G:C | N134K | 0.998 |
| 15:65058450:G:T | N134K | 0.998 |
| 15:65058454:C:T | G133D | 0.998 |
| 15:65058537:G:C | S105R | 0.998 |
| 15:65058537:G:T | S105R | 0.998 |
| 15:65058539:T:G | S105R | 0.998 |
| 15:65058560:A:C | Y98D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000048869 (15:65075077 A>G,T), RS1000120204 (15:65052333 T>G), RS1000219308 (15:65058637 C>A,T), RS1000416831 (15:65068420 C>T), RS1000438711 (15:65070663 G>A,C), RS1000456371 (15:65052288 C>T), RS1000489089 (15:65070310 T>C), RS1000552319 (15:65051904 C>T), RS1000651112 (15:65075998 T>C), RS1000652350 (15:65064875 T>A,C), RS1000781291 (15:65047514 G>A), RS1000801240 (15:65057999 C>T), RS1001021711 (15:65075813 C>T), RS1001065943 (15:65058212 T>C), RS1001072383 (15:65053915 T>A,C)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:619481
GenCC curated gene-disease
Mondo (2): cholestasis (MONDO:0001751), bile acid malabsorption, primary, 2 (MONDO:0859180)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011947_36 | White matter hyperintensity volume | 3.000000e-08 |
| GCST011950_42 | White matter hyperintensity volume (adjusted for hypertension) | 3.000000e-07 |
| GCST011953_21 | White matter hyperintensity volume x hypertension interaction (2df) | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005665 | white matter hyperintensity measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002779 | Cholestasis | C06.130.120.135 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | increases methylation, affects methylation, decreases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | increases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Ethanol | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Diazinon | decreases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Tungsten Compounds | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
67 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01373918 | PHASE4 | TERMINATED | Low Dose Fat for the Prevention of Liver Disease in Babies With Gastrointestinal Disorders |
| NCT01585935 | PHASE4 | COMPLETED | Preventing Cholestasis Using SMOFLipid® |
| NCT01998620 | PHASE4 | UNKNOWN | Efficacy and Safety of S-adenosyl-L-methionine in Treatment of Chronic Hepatitis B Patients With Cholestasis |
| NCT00007020 | PHASE3 | COMPLETED | Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid |
| NCT00058890 | PHASE3 | COMPLETED | Gabapentin to Treat Itch in Patients With Liver Disease |
| NCT01194063 | PHASE3 | COMPLETED | Use of Omegaven Fish Oil Emulsion for Parenteral Nutrition Associated Liver Disease in Infants and Children |
| NCT02357576 | PHASE3 | COMPLETED | Standard Lipid Therapy vs IVFE Minimization for Prevention of PNALD |
| NCT02663453 | PHASE3 | COMPLETED | Effectiveness of Multicomponent Lipid Emulsion in Preterm Infants Requiring Parenteral Nutrition |
| NCT03662282 | PHASE3 | COMPLETED | Omegaven as Alternative Parenteral Fat Nutrition |
| NCT04167358 | PHASE3 | ACTIVE_NOT_RECRUITING | Linerixibat Long-term Safety, and Tolerability Study |
| NCT04309773 | PHASE3 | UNKNOWN | Efficacy of 24 Month of Bezafibrate in Primary Sclerosing Cholangitis With Persistent Cholestasis Despite Ursodeoxycholic Acid Therapy |
| NCT00004315 | PHASE2 | UNKNOWN | Phase II Pilot Study to Compare the Bioavailability of Buffered, Enteric-Coated Ursodiol With Unmodified Ursodiol for Chronic Cholestatic Liver Disease and Cystic Fibrosis-Associated Liver Disease |
| NCT00080236 | PHASE2 | COMPLETED | Safety and Efficacy Study of a Caspase Inhibitor in Patients Undergoing Liver Transplantation |
| NCT00816348 | PHASE2 | TERMINATED | Compassionate Use of Omegaven IV Fat Emulsion |
| NCT00826020 | PHASE2 | COMPLETED | Evaluation of Omegaven™ Parenteral Nutrition in Patients With Total Parenteral Nutrition (TPN)-Induced Cholestasis |
| NCT00969332 | PHASE2 | TERMINATED | A Safety and Efficacy Study to Determine if Giving Intravenous Fish Oil Helps Children With Liver Disease |
| NCT01739517 | PHASE2 | UNKNOWN | Efficacy and Safety of Omega-3 Lipid Therapy in Pediatric Patients With Parenteral Nutrition-Associated Liver Disease |
| NCT02420496 | PHASE2 | WITHDRAWN | Enteral Fish Oil is Superior to Ursodeoxycholic Acid (UDCA) and Placebo for the Treatment of Cholestasis in Infants |
| NCT02966834 | PHASE2 | COMPLETED | Dose Response Study of GSK2330672 for the Treatment of Pruritus in Participants With Primary Biliary Cholangitis |
| NCT03586674 | PHASE2 | COMPLETED | Fibrates in Pediatric Cholestasis |
| NCT04604652 | PHASE2 | COMPLETED | Open-Label Study of HTD1801 in Adult Subjects With Primary Biliary Cholangitis |
| NCT00512629 | PHASE1 | COMPLETED | Cholestasis Prevention: Efficacy of IV Fish Oil |
| NCT01879735 | PHASE1 | COMPLETED | Biliary Excretion of Conjugated Bile Acids in Humans Measured by 11C-cholylsarcosine PET/CT |
| NCT02267707 | PHASE1 | TERMINATED | Pharmacokinetic and Safety Study of Nab®-Paclitaxel (ABI-007) Plus Gemcitabine in Subjects With Advanced Pancreatic Cancer Who Have Cholestatic Hyperbilirubinemia |
| NCT02801981 | PHASE1 | COMPLETED | Dose-escalation Study of GSK2330672 in Japanese Healthy Male Volunteers |
| NCT03992014 | PHASE1 | COMPLETED | Pharmacokinetics (PKs) and Metabolism of Radiolabelled Linerixibat |
| NCT04053023 | PHASE1 | COMPLETED | Linerixibat and Obeticholic Acid Drug Interaction Study in Healthy Subjects |
| NCT04510090 | PHASE1 | COMPLETED | Evaluate the Safety, Tolerability, and PK of EP547 in Healthy Subjects and Subjects With Cholestatic or Uremic Pruritus |
| NCT00846963 | PHASE2/PHASE3 | COMPLETED | Ursodiol for Treating Parenteral Nutrition Associated Cholestasis in Neonates |
| NCT01247012 | PHASE2/PHASE3 | UNKNOWN | Minimization of IntraLipid Versus Omegaven |
| NCT02370251 | PHASE2/PHASE3 | COMPLETED | Compassionate Use of Omegaven in Children |
| NCT02721277 | PHASE1/PHASE2 | TERMINATED | SMOFlipid to Lessen the Severity of Neonatal Cholestasis |
| NCT00004410 | Not specified | COMPLETED | Randomized Study of Tauroursodeoxycholic Acid in Prophylactic Therapy of Total Parenteral Nutrition Associated Cholestasis in Infants |
| NCT00004414 | Not specified | COMPLETED | Sincalide (Cholecystokinin Octapeptide) Versus Placebo in Neonates at High Risk for Developing Parenteral Nutrition Associated Cholestasis |
| NCT00007033 | Not specified | COMPLETED | Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease |
| NCT00135044 | Not specified | UNKNOWN | A Trial of Taurine Supplementation in Parenteral Nutrition 1 |
| NCT00392730 | Not specified | COMPLETED | Neurodevelopment and Neuroimaging in Parenterally-fed Infants and Young Children |
| NCT00392977 | Not specified | COMPLETED | Brain Manganese Deposition in High Risk Neonates |
| NCT00685386 | Not specified | COMPLETED | A Randomized Controlled Trial (RCT) of Carbon Dioxide Versus Air Insufflation During Endoscopic Retrograde Cholangiopancreatography (ERCP) |
| NCT00738101 | Not specified | COMPLETED | Compassionate Use of an Intravenous Fish Oil Emulsion in the Treatment of Liver Injury in Infants |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bile acid malabsorption, primary, 2, cholestasis