RAB20
gene geneOn this page
Also known as FLJ20429
Summary
RAB20 (RAB20, member RAS oncogene family, HGNC:18260) is a protein-coding gene on chromosome 13q34, encoding Ras-related protein Rab-20 (Q9NX57). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.
Predicted to enable GTPase activity. Involved in phagosome acidification and phagosome-lysosome fusion. Located in Golgi apparatus and phagocytic vesicle.
Source: NCBI Gene 55647 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 42 total
- MANE Select transcript:
NM_017817
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18260 |
| Approved symbol | RAB20 |
| Name | RAB20, member RAS oncogene family |
| Location | 13q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20429 |
| Ensembl gene | ENSG00000139832 |
| Ensembl biotype | protein_coding |
| Entrez | 55647 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000267328, ENST00000907762
RefSeq mRNA: 1 — MANE Select: NM_017817
NM_017817
CCDS: CCDS9512
Canonical transcript exons
ENST00000267328 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000940346 | 110561348 | 110561722 |
| ENSE00000940347 | 110523066 | 110524197 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 98.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4905 / max 271.5945, expressed in 1325 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 138255 | 12.4905 | 1325 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.64 | gold quality |
| oocyte | CL:0000023 | 96.16 | gold quality |
| pancreatic ductal cell | CL:0002079 | 95.83 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.12 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.65 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.38 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.05 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.80 | gold quality |
| spleen | UBERON:0002106 | 90.80 | gold quality |
| nephron tubule | UBERON:0001231 | 90.38 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.37 | gold quality |
| adrenal gland | UBERON:0002369 | 90.12 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.00 | gold quality |
| popliteal artery | UBERON:0002250 | 89.75 | gold quality |
| tibial artery | UBERON:0007610 | 89.75 | gold quality |
| monocyte | CL:0000576 | 89.56 | gold quality |
| mononuclear cell | CL:0000842 | 89.56 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.55 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 89.54 | gold quality |
| body of stomach | UBERON:0001161 | 89.49 | gold quality |
| upper lobe of lung | UBERON:0008948 | 89.43 | gold quality |
| lower lobe of lung | UBERON:0008949 | 89.41 | silver quality |
| right lung | UBERON:0002167 | 89.24 | gold quality |
| leukocyte | CL:0000738 | 88.92 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.84 | gold quality |
| left coronary artery | UBERON:0001626 | 88.69 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 88.01 | gold quality |
| aorta | UBERON:0000947 | 87.91 | gold quality |
| omental fat pad | UBERON:0010414 | 87.73 | gold quality |
| peritoneum | UBERON:0002358 | 87.61 | 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
Upstream regulators (CollecTRI, top): SP1
miRNA regulators (miRDB)
25 targeting RAB20, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-302B-5P | 99.50 | 69.49 | 1857 |
| HSA-MIR-302D-5P | 99.50 | 69.34 | 1863 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-4751 | 98.80 | 64.95 | 525 |
| HSA-MIR-502-5P | 98.77 | 66.51 | 906 |
| HSA-MIR-6881-3P | 98.04 | 68.24 | 1777 |
| HSA-MIR-4257 | 97.86 | 68.05 | 1190 |
| HSA-MIR-6772-3P | 97.04 | 65.89 | 784 |
| HSA-MIR-4448 | 97.04 | 66.22 | 752 |
| HSA-MIR-6750-3P | 96.79 | 67.50 | 740 |
| HSA-MIR-624-5P | 96.00 | 68.88 | 728 |
| HSA-MIR-103B | 95.51 | 66.85 | 441 |
Literature-anchored findings (GeneRIF, showing 6)
- Regulates connexin 43 intracellular transport. (PMID:18649179)
- TdIF1 associates with the RAB20 promoter, and RAB20 gene transcription is reduced in TdIF1-knocked-down cells, suggesting that TdIF1 stimulates RAB20 gene transcription. (PMID:23874396)
- Rab20 is specifically and significantly upregulated in the sputum of human patients with active tuberculosis. (PMID:28494243)
- Regulation of Small GTPase Rab20 by Ikaros in B-Cell Acute Lymphoblastic Leukemia. (PMID:32138279)
- Low oxygen saturation during sleep reduces CD1D and RAB20 expressions that are reversed by CPAP therapy. (PMID:32512511)
- TPI1-reduced extracellular vesicles mediated by Rab20 downregulation promotes aerobic glycolysis to drive hepatocarcinogenesis. (PMID:34401050)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rab20 | ENSDARG00000005049 |
| mus_musculus | Rab20 | ENSMUSG00000031504 |
| rattus_norvegicus | Rab20 | ENSRNOG00000023991 |
| caenorhabditis_elegans | WBGENE00016874 |
Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)
Protein
Protein identifiers
Ras-related protein Rab-20 — Q9NX57 (reviewed: Q9NX57)
All UniProt accessions (1): Q9NX57
UniProt curated annotations — full annotation on UniProt →
Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB20 plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes.
Subcellular location. Golgi apparatus. Cytoplasmic vesicle. Phagosome. Phagosome membrane.
Tissue specificity. Low or absent expression in normal pancreas and stronger expression in 15 of 18 exocrine pancreatic adenocarcinomas (at protein level).
Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).
Domain organisation. Switch 1, switch 2 and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.
Similarity. Belongs to the small GTPase superfamily. Rab family.
RefSeq proteins (1): NP_060287* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR041836 | Rab20 | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (25 total): binding site 14, region of interest 2, lipid moiety-binding region 2, short sequence motif 2, compositionally biased region 2, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NX57-F1 | 87.02 | 0.72 |
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 (14): 19; 32; 36; 36; 55; 58; 113; 114; 116; 184; 185; 17 …
Post-translational modifications (2): 232, 233
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8873719 | RAB geranylgeranylation |
MSigDB gene sets: 284 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_RESPONSE_TO_PEPTIDE, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_VESICLE_MEDIATED_TRANSPORT, WIELAND_UP_BY_HBV_INFECTION, GOBP_PHAGOLYSOSOME_ASSEMBLY, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_PHAGOSOME_MATURATION, ROZANOV_MMP14_TARGETS_UP, GOBP_ORGANELLE_MEMBRANE_FUSION, chr13q34
GO Biological Process (6): intracellular protein transport (GO:0006886), endocytosis (GO:0006897), cellular response to type II interferon (GO:0071346), phagosome acidification (GO:0090383), phagosome-lysosome fusion (GO:0090385), protein transport (GO:0015031)
GO Molecular Function (6): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), hydrolase activity (GO:0016787)
GO Cellular Component (9): early endosome (GO:0005769), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), endomembrane system (GO:0012505), endocytic vesicle (GO:0030139), phagocytic vesicle membrane (GO:0030670), phagocytic vesicle (GO:0045335), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| response to type II interferon | 1 |
| cellular response to cytokine stimulus | 1 |
| intracellular pH reduction | 1 |
| phagosome maturation | 1 |
| phagolysosome assembly | 1 |
| vesicle fusion | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| endosome | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| cytoplasmic vesicle | 1 |
| endocytic vesicle membrane | 1 |
| phagocytic vesicle | 1 |
| endocytic vesicle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RAB20 | RABGEF1 | Q9UJ41 | 628 |
| RAB20 | RAB5A | P20339 | 462 |
| RAB20 | RIMKLA | Q8IXN7 | 437 |
| RAB20 | RAB10 | P61026 | 418 |
| RAB20 | DNTTIP1 | Q9H147 | 394 |
| RAB20 | NAXD | Q8IW45 | 392 |
| RAB20 | TMEM101 | Q96IK0 | 372 |
| RAB20 | GATAD1 | Q8WUU5 | 355 |
| RAB20 | CEBPZOS | A8MTT3 | 353 |
| RAB20 | PEX12 | O00623 | 350 |
| RAB20 | SLCO5A1 | Q9H2Y9 | 349 |
| RAB20 | WNT11 | O96014 | 349 |
| RAB20 | PRR32 | B1ATL7 | 316 |
| RAB20 | OSBPL1A | Q9BXW6 | 306 |
| RAB20 | TMEM223 | A0PJW6 | 305 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UNC119 | UNC119B | psi-mi:“MI:0914”(association) | 0.640 |
| RAB20 | CHM | psi-mi:“MI:0914”(association) | 0.530 |
| RAB20 | psi-mi:“MI:0883”(gtpase reaction) | 0.440 | |
| virA | psi-mi:“MI:0883”(gtpase reaction) | 0.440 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| Npc1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB20 | BCL10 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD11 | PLD2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A5 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A12 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SV2B | C15orf61 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (27): RAB20 (Affinity Capture-RNA), RAB20 (Affinity Capture-MS), RAB20 (Affinity Capture-RNA), ANKRD13D (Affinity Capture-MS), TFCP2 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), CHM (Affinity Capture-MS), CHML (Affinity Capture-MS), PGGT1B (Affinity Capture-MS), ALKBH1 (Affinity Capture-MS), MINA (Affinity Capture-MS), UBP1 (Affinity Capture-MS), SPATA20 (Affinity Capture-MS), CTU2 (Affinity Capture-MS), RABGGTA (Affinity Capture-MS)
ESM2 similar proteins: A1DZY4, A6QP66, O35626, O35929, O88910, O88954, P0C0E4, P35295, P51157, P51158, P53667, P53668, P53669, P55040, P55041, P55043, P63032, P63033, Q06AU5, Q12829, Q13368, Q13637, Q3SWY9, Q5E9J3, Q5FVY2, Q5R541, Q5RFI2, Q6DGN0, Q6IMA3, Q6IMA7, Q6IMB1, Q6P0U3, Q6T310, Q8AVS6, Q8IYK8, Q8QFP8, Q8VEL9, Q8VHP8, Q8VHQ4, Q8WXH6
Diamond homologs: A4FV54, C4YL11, C8VQY7, M0RC99, O04157, O23657, O24461, O42819, O49841, O76173, O76742, O94655, P07560, P0CY30, P0CY31, P18066, P20339, P22127, P22128, P24409, P29687, P31582, P31583, P34142, P35278, P35280, P35282, P35285, P35292, P35295, P36411, P36586, P36864, P41924, P41925, P51147, P51148, P51153, P55258, P55745
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
679 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:110524193:CCGCC:C | acceptor_gain | 1.0000 |
| 13:110524194:CGCC:C | acceptor_gain | 1.0000 |
| 13:110524194:CGCCC:C | acceptor_gain | 1.0000 |
| 13:110524195:GCC:G | acceptor_gain | 1.0000 |
| 13:110524196:CC:C | acceptor_gain | 1.0000 |
| 13:110524196:CCC:C | acceptor_gain | 1.0000 |
| 13:110524197:CC:C | acceptor_gain | 1.0000 |
| 13:110524198:C:CA | acceptor_loss | 1.0000 |
| 13:110524198:C:CC | acceptor_gain | 1.0000 |
| 13:110524198:C:T | acceptor_gain | 1.0000 |
| 13:110524199:T:C | acceptor_loss | 1.0000 |
| 13:110524201:G:GC | acceptor_gain | 1.0000 |
| 13:110561342:CCTCA:C | donor_loss | 1.0000 |
| 13:110561343:CTCA:C | donor_loss | 1.0000 |
| 13:110561344:TCA:T | donor_loss | 1.0000 |
| 13:110561345:CA:C | donor_loss | 1.0000 |
| 13:110561346:A:AT | donor_loss | 1.0000 |
| 13:110561347:C:CT | donor_loss | 1.0000 |
| 13:110524201:G:C | acceptor_gain | 0.9900 |
| 13:110540205:G:C | donor_gain | 0.9900 |
| 13:110561347:CCTG:C | donor_gain | 0.9900 |
| 13:110524195:GCCCT:G | acceptor_gain | 0.9700 |
| 13:110542754:C:CC | acceptor_gain | 0.9700 |
| 13:110561346:A:AC | donor_gain | 0.9700 |
| 13:110561347:C:CC | donor_gain | 0.9700 |
| 13:110524196:CCCTG:C | acceptor_gain | 0.9600 |
| 13:110524198:CT:C | acceptor_gain | 0.9600 |
| 13:110524197:CCT:C | acceptor_gain | 0.9500 |
| 13:110524199:T:G | acceptor_gain | 0.9400 |
| 13:110534579:TTG:T | donor_gain | 0.9400 |
AlphaMissense
1542 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:110524029:T:A | K114I | 0.999 |
| 13:110524184:G:C | F62L | 0.999 |
| 13:110524184:G:T | F62L | 0.999 |
| 13:110524186:A:G | F62L | 0.999 |
| 13:110561356:T:A | D55V | 0.999 |
| 13:110561356:T:G | D55A | 0.999 |
| 13:110524028:T:A | K114N | 0.998 |
| 13:110524028:T:G | K114N | 0.998 |
| 13:110561357:C:G | D55H | 0.998 |
| 13:110561360:A:G | W54R | 0.998 |
| 13:110561360:A:T | W54R | 0.998 |
| 13:110523821:G:C | S183R | 0.997 |
| 13:110523821:G:T | S183R | 0.997 |
| 13:110523823:T:G | S183R | 0.997 |
| 13:110561355:G:C | D55E | 0.997 |
| 13:110561355:G:T | D55E | 0.997 |
| 13:110561356:T:C | D55G | 0.997 |
| 13:110561449:C:G | R24P | 0.997 |
| 13:110561430:G:C | F30L | 0.996 |
| 13:110561430:G:T | F30L | 0.996 |
| 13:110561432:A:G | F30L | 0.996 |
| 13:110561470:C:T | G17E | 0.996 |
| 13:110561485:C:T | G12E | 0.996 |
| 13:110561486:C:G | G12R | 0.996 |
| 13:110561486:C:T | G12R | 0.996 |
| 13:110523819:G:T | A184D | 0.995 |
| 13:110524030:T:C | K114E | 0.995 |
| 13:110524109:G:C | S87R | 0.995 |
| 13:110524109:G:T | S87R | 0.995 |
| 13:110524111:T:G | S87R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000102567 (13:110549434 G>A), RS1000259928 (13:110546102 A>C), RS1000362361 (13:110538691 G>C), RS1000392683 (13:110556167 A>C,T), RS1000484134 (13:110534084 G>A,T), RS1000606291 (13:110541887 A>T), RS1000737784 (13:110545722 G>A), RS1000765228 (13:110540062 T>C), RS1000775564 (13:110531015 T>C,G), RS1000818333 (13:110538975 G>T), RS1000846294 (13:110523848 G>A), RS1000857306 (13:110557067 G>A,C), RS1000876000 (13:110523508 C>A,T), RS1000916896 (13:110552998 G>A), RS1000951299 (13:110536169 G>A,C)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004253_3 | Accelerated cognitive decline after conversion of mild cognitive impairment to Alzheimer’s disease (Alzhiemer’s diagnosis trajectory interaction) | 2.000000e-06 |
| GCST010653_23 | Thyroid stimulating hormone levels | 9.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007710 | cognitive decline measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
62 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 9 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Acetaminophen | decreases expression, affects response to substance | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation, affects methylation | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| p-Chloromercuribenzoic Acid | increases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| zinc chloride | decreases reaction, increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases reaction, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| 1-nitropyrene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Am 580 | 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 | increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| Rosiglitazone | increases expression | 1 |
| Sunitinib | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2D0 | Abcam HeLa RAB20 KO | Cancer cell line | Female |
| CVCL_TI01 | HAP1 RAB20 (-) 1 | Cancer cell line | Male |
| CVCL_TI02 | HAP1 RAB20 (-) 2 | Cancer cell line | Male |
| CVCL_TI03 | HAP1 RAB20 (-) 3 | Cancer cell line | Male |
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.