ARL5B
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Summary
ARL5B (ARF like GTPase 5B, HGNC:23052) is a protein-coding gene on chromosome 10p12.31, encoding ADP-ribosylation factor-like protein 5B (Q96KC2). Binds and exchanges GTP and GDP.
ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.
Source: NCBI Gene 221079 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 27 total
- MANE Select transcript:
NM_178815
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23052 |
| Approved symbol | ARL5B |
| Name | ARF like GTPase 5B |
| Location | 10p12.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000165997 |
| Ensembl biotype | protein_coding |
| OMIM | 608909 |
| Entrez | 221079 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000377275, ENST00000867148
RefSeq mRNA: 1 — MANE Select: NM_178815
NM_178815
CCDS: CCDS7131
Canonical transcript exons
ENST00000377275 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001098821 | 18668530 | 18668677 |
| ENSE00001098822 | 18672622 | 18672705 |
| ENSE00001098823 | 18673984 | 18674135 |
| ENSE00001120931 | 18659431 | 18659683 |
| ENSE00001473373 | 18675168 | 18681639 |
| ENSE00001713306 | 18666575 | 18666635 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 96.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.7405 / max 873.8714, expressed in 1803 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 104143 | 24.4604 | 1796 |
| 104142 | 1.8337 | 1014 |
| 104144 | 1.8225 | 684 |
| 104145 | 0.5424 | 284 |
| 104146 | 0.0815 | 24 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| vena cava | UBERON:0004087 | 96.62 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.53 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.49 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.35 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.77 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.71 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.57 | gold quality |
| pericardium | UBERON:0002407 | 92.95 | gold quality |
| secondary oocyte | CL:0000655 | 92.62 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.43 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.42 | gold quality |
| endothelial cell | CL:0000115 | 91.39 | gold quality |
| parietal pleura | UBERON:0002400 | 91.24 | gold quality |
| tibia | UBERON:0000979 | 91.18 | gold quality |
| upper leg skin | UBERON:0004262 | 91.12 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.97 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.93 | gold quality |
| visceral pleura | UBERON:0002401 | 90.45 | gold quality |
| oviduct epithelium | UBERON:0004804 | 89.98 | gold quality |
| gingiva | UBERON:0001828 | 89.26 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 89.11 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.05 | gold quality |
| thymus | UBERON:0002370 | 89.01 | gold quality |
| deltoid | UBERON:0001476 | 88.62 | gold quality |
| placenta | UBERON:0001987 | 88.49 | gold quality |
| endometrium | UBERON:0001295 | 88.06 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 87.75 | gold quality |
| saphenous vein | UBERON:0007318 | 87.37 | gold quality |
| oral cavity | UBERON:0000167 | 87.11 | gold quality |
| lower lobe of lung | UBERON:0008949 | 87.11 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
164 targeting ARL5B, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
Literature-anchored findings (GeneRIF, showing 9)
- ARL8 contains six exons and five introns, and encodes a 179 amino acid protein that shares homology to the other ARL proteins. (PMID:12853149)
- Arl8 and SKIP are required for lysosomes to distribute away from the microtubule-organizing center. We identify two kinesin light chain binding motifs in SKIP that are required for lysosomes to accumulate kinesin-1 and redistribute to the cell periphery. (PMID:22172677)
- Arl5b is a trans-golgi-network-localised small G protein that plays a key role in regulating transport along the endosome-trans-golgi network pathway (PMID:22245584)
- Depletion of either Arl5b or AP4 results in the accumulation of APP. (PMID:28000370)
- Advanced glycation end products reduce macrophage-mediated killing of Staphylococcus aureus by ARL8 upregulation and inhibition of autolysosome formation. (PMID:32250445)
- miR-145 inhibits mitochondrial function of ovarian cancer by targeting ARL5B. (PMID:33419459)
- Binding with heat shock cognate protein HSC70 fine-tunes the Golgi association of the small GTPase ARL5B. (PMID:34798070)
- Knockdown of ARL5B Induces Mitochondrial-mediated Apoptosis and Inhibits Glycolysis in Breast Cancer Cells by Activating MDA5 Signaling. (PMID:35546774)
- Interacting partners of Golgi-localized small G protein Arl5b identified by a combination of in vivo proximity labelling and GFP-Trap pull down. (PMID:35789482)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl8 | ENSDARG00000094709 |
| mus_musculus | Arl5b | ENSMUSG00000017418 |
| rattus_norvegicus | Arl5b | ENSRNOG00000064112 |
| drosophila_melanogaster | Arl5 | FBGN0035866 |
Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
ADP-ribosylation factor-like protein 5B — Q96KC2 (reviewed: Q96KC2)
Alternative names: ADP-ribosylation factor-like protein 8
All UniProt accessions (2): B0YIW9, Q96KC2
UniProt curated annotations — full annotation on UniProt →
Function. Binds and exchanges GTP and GDP.
Similarity. Belongs to the small GTPase superfamily. Arf family.
RefSeq proteins (1): NP_848930* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005225 | Small_GTP-bd | Domain |
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR024156 | Small_GTPase_ARF | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00025
UniProt features (25 total): helix 10, strand 6, binding site 5, initiator methionine 1, chain 1, turn 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1YZG | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96KC2-F1 | 92.55 | 0.82 |
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 (5): 23–30; 31; 66–70; 125–128; 159
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 218 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, GSE45365_NK_CELL_VS_BCELL_UP, HORIUCHI_WTAP_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GCANCTGNY_MYOD_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, GTGCCTT_MIR506, GOCC_TRANS_GOLGI_NETWORK, MYOD_01, GATA1_01, ZIC1_01, GARY_CD5_TARGETS_DN, HTF_01, DOUGLAS_BMI1_TARGETS_DN
GO Biological Process (3): intracellular protein transport (GO:0006886), vesicle-mediated transport (GO:0016192), protein localization to Golgi membrane (GO:1903292)
GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), trans-Golgi network (GO:0005802)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| cellular process | 1 |
| protein localization to Golgi apparatus | 1 |
| protein localization to membrane | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| Golgi apparatus subcompartment | 1 |
Protein interactions and networks
STRING
2457 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL5B | PLEKHM2 | Q8IWE5 | 953 |
| ARL5B | KIF1A | Q12756 | 759 |
| ARL5B | KLC2 | Q9H0B6 | 699 |
| ARL5B | TOM1 | O60784 | 694 |
| ARL5B | KLC1 | Q07866 | 690 |
| ARL5B | PLEKHM1 | Q9Y4G2 | 683 |
| ARL5B | KLC3 | Q6P597 | 665 |
| ARL5B | KLC4 | Q9NSK0 | 645 |
| ARL5B | BORCS8 | Q96FH0 | 622 |
| ARL5B | KXD1 | Q9BQD3 | 606 |
| ARL5B | BORCS5 | Q969J3 | 597 |
| ARL5B | BORCS7 | Q96B45 | 596 |
| ARL5B | BORCS6 | Q96GS4 | 583 |
| ARL5B | FYCO1 | Q9BQS8 | 558 |
| ARL5B | RUFY4 | Q6ZNE9 | 552 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARL5B | FNDC11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC5A5 | SLC19A2 | psi-mi:“MI:0914”(association) | 0.530 |
| RRM1 | GLRX3 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMMDC1 | NDUFC2 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPRB | CTDNEP1 | psi-mi:“MI:0914”(association) | 0.530 |
| VPS36 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| PDCD1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| AKAP14 | EFCAB7 | psi-mi:“MI:0914”(association) | 0.350 |
| GRPR | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| SLC20A1 | MPP2 | psi-mi:“MI:0914”(association) | 0.350 |
| SRPRB | GOSR1 | psi-mi:“MI:0914”(association) | 0.350 |
| SYP | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| LPAR6 | DEGS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTGIR | GPAA1 | psi-mi:“MI:0914”(association) | 0.350 |
| EDNRA | BCL2L11 | psi-mi:“MI:0914”(association) | 0.350 |
| GNAT1 | DNAJC6 | psi-mi:“MI:0914”(association) | 0.350 |
| IL4R | DHRS3 | psi-mi:“MI:0914”(association) | 0.350 |
| SGK1 | HRAS | psi-mi:“MI:0914”(association) | 0.350 |
| CD164L2 | SLC19A1 | psi-mi:“MI:0914”(association) | 0.350 |
| CENPO | ITGB3BP | psi-mi:“MI:0914”(association) | 0.350 |
| ARL5B | RAD21 | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| KLRB1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| UPK2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DMB | RAB29 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFRSF9 | WFS1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARL5B | ATP1A3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (91): ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS), ARL5B (Affinity Capture-MS)
ESM2 similar proteins: A4D1S5, A6NH57, O45379, O59781, O88848, P25160, P25378, P34212, P38116, P40994, P51152, P51646, Q02804, Q0IIM2, Q13795, Q18510, Q2KJ96, Q32LJ2, Q3SXC5, Q54E92, Q54HK2, Q54I24, Q54JJ3, Q54V41, Q54V47, Q54Y14, Q54YV7, Q55AD9, Q5JT25, Q5M9P8, Q5R4G5, Q5R579, Q5RCQ6, Q60Z38, Q61DE0, Q63055, Q6P068, Q6P3A9, Q80ZU0, Q8BXL7
Diamond homologs: A6NH57, B5FYQ0, O00909, O23778, O48649, O48920, P0CM16, P0CM17, P0DH91, P11076, P18085, P19146, P22274, P25160, P26990, P26991, P34212, P34727, P36397, P36405, P36406, P36407, P36579, P37996, P38116, P40616, P40940, P40945, P40946, P40994, P49076, P49702, P51643, P51644, P51645, P51646, P51821, P51822, P51823, P51824
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 13 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
901 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:18659682:AGGT:A | donor_loss | 1.0000 |
| 10:18659683:GGTG:G | donor_loss | 1.0000 |
| 10:18666573:A:AG | acceptor_gain | 1.0000 |
| 10:18666574:G:GG | acceptor_gain | 1.0000 |
| 10:18666633:ATT:A | donor_gain | 1.0000 |
| 10:18666636:G:GG | donor_gain | 1.0000 |
| 10:18668528:A:AG | acceptor_gain | 1.0000 |
| 10:18668529:G:GG | acceptor_gain | 1.0000 |
| 10:18668529:GCTT:G | acceptor_gain | 1.0000 |
| 10:18668529:GCTTA:G | acceptor_gain | 1.0000 |
| 10:18672609:A:AG | acceptor_gain | 1.0000 |
| 10:18672620:A:AG | acceptor_gain | 1.0000 |
| 10:18672621:G:GA | acceptor_gain | 1.0000 |
| 10:18672621:GTTC:G | acceptor_gain | 1.0000 |
| 10:18672701:ATGAG:A | donor_loss | 1.0000 |
| 10:18672702:TGAGG:T | donor_loss | 1.0000 |
| 10:18672704:AGG:A | donor_loss | 1.0000 |
| 10:18672705:GG:G | donor_loss | 1.0000 |
| 10:18672706:GTAA:G | donor_loss | 1.0000 |
| 10:18672707:T:G | donor_loss | 1.0000 |
| 10:18673980:GCA:G | acceptor_loss | 1.0000 |
| 10:18673981:CAGGA:C | acceptor_loss | 1.0000 |
| 10:18673982:A:AC | acceptor_loss | 1.0000 |
| 10:18673982:A:AG | acceptor_gain | 1.0000 |
| 10:18673982:AG:A | acceptor_gain | 1.0000 |
| 10:18673983:G:GA | acceptor_gain | 1.0000 |
| 10:18673983:GG:G | acceptor_gain | 1.0000 |
| 10:18673983:GGAT:G | acceptor_gain | 1.0000 |
| 10:18673983:GGATT:G | acceptor_gain | 1.0000 |
| 10:18674131:GAAGG:G | donor_gain | 1.0000 |
AlphaMissense
1178 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:18666610:G:T | G28W | 1.000 |
| 10:18666614:A:T | K29I | 1.000 |
| 10:18668619:A:C | D66A | 1.000 |
| 10:18674021:A:T | K126I | 1.000 |
| 10:18674022:A:C | K126N | 1.000 |
| 10:18674022:A:T | K126N | 1.000 |
| 10:18666595:G:A | G23R | 0.999 |
| 10:18666595:G:C | G23R | 0.999 |
| 10:18666596:G:A | G23E | 0.999 |
| 10:18666610:G:A | G28R | 0.999 |
| 10:18666610:G:C | G28R | 0.999 |
| 10:18666611:G:A | G28E | 0.999 |
| 10:18666611:G:T | G28V | 0.999 |
| 10:18666613:A:C | K29Q | 0.999 |
| 10:18666615:A:C | K29N | 0.999 |
| 10:18666615:A:T | K29N | 0.999 |
| 10:18666617:C:T | T30I | 0.999 |
| 10:18668568:G:A | G49E | 0.999 |
| 10:18668615:T:A | W65R | 0.999 |
| 10:18668615:T:C | W65R | 0.999 |
| 10:18668618:G:C | D66H | 0.999 |
| 10:18668619:A:G | D66G | 0.999 |
| 10:18668619:A:T | D66V | 0.999 |
| 10:18668651:T:A | W77R | 0.999 |
| 10:18668651:T:C | W77R | 0.999 |
| 10:18668653:G:C | W77C | 0.999 |
| 10:18668653:G:T | W77C | 0.999 |
| 10:18674020:A:G | K126E | 0.999 |
| 10:18674021:A:C | K126T | 0.999 |
| 10:18666613:A:G | K29E | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000019736 (10:18673760 ATT>A,AT,ATTT), RS1000235601 (10:18666977 C>T), RS1000284909 (10:18669387 A>G,T), RS1000421865 (10:18681368 A>G,T), RS1000436293 (10:18664165 G>C), RS1000497169 (10:18676676 A>G), RS1000498975 (10:18673607 A>G), RS1000562141 (10:18659384 A>G), RS1000615368 (10:18671641 C>G), RS1000769139 (10:18666790 A>G), RS1000819106 (10:18677901 T>G), RS1001071703 (10:18671877 C>G,T), RS1001309523 (10:18658498 C>G), RS1001349551 (10:18678640 T>C), RS1001380935 (10:18658690 C>G)
Disease associations
OMIM: gene MIM:608909 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002975_3 | Postoperative atrial fibrillation in coronary artery bypass grafting surgery | 7.000000e-06 |
| GCST003209_4 | Colorectal or endometrial cancer | 2.000000e-07 |
| GCST004521_192 | Autism spectrum disorder or schizophrenia | 3.000000e-10 |
| GCST006281_11 | Coronary artery disease in type 1 diabetes | 6.000000e-06 |
| GCST008118_20 | Suicide attempts in major depressive disorder | 3.000000e-08 |
| GCST011999_3 | Hepatitis C (spontaneous viral clearance) | 2.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004230 | endometrial neoplasm |
| EFO:0004321 | attempted suicide |
| EFO:0009785 | remission |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
65 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| Nickel | increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Smoke | increases abundance, decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects response to substance | 1 |
| 15-acetyldeoxynivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 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 |
| torcetrapib | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hepatitis C virus infection