YPEL5
gene geneOn this page
Also known as CGI-127
Summary
YPEL5 (yippee like 5, HGNC:18329) is a protein-coding gene on chromosome 2p23.1, encoding Protein yippee-like 5 (P62699). Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. It is a selective cancer dependency (DepMap: 74.8% of cell lines).
Predicted to enable metal ion binding activity. Predicted to be involved in cell population proliferation. Part of ubiquitin ligase complex.
Source: NCBI Gene 51646 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 13 total
- Cancer dependency (DepMap): dependent in 74.8% of screened cell lines
- MANE Select transcript:
NM_016061
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18329 |
| Approved symbol | YPEL5 |
| Name | yippee like 5 |
| Location | 2p23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-127 |
| Ensembl gene | ENSG00000119801 |
| Ensembl biotype | protein_coding |
| OMIM | 609726 |
| Entrez | 51646 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 35 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000261353, ENST00000379519, ENST00000379520, ENST00000402003, ENST00000402708, ENST00000470120, ENST00000482474, ENST00000490211, ENST00000492439, ENST00000495673, ENST00000871629, ENST00000871630, ENST00000871631, ENST00000871632, ENST00000871633, ENST00000871634, ENST00000871635, ENST00000871636, ENST00000871637, ENST00000871638, ENST00000871639, ENST00000871640, ENST00000871641, ENST00000921992, ENST00000921993, ENST00000921994, ENST00000921995, ENST00000921996, ENST00000921997, ENST00000956321, ENST00000956322, ENST00000956323, ENST00000956324, ENST00000956325, ENST00000956326, ENST00000956327, ENST00000956328, ENST00000956329, ENST00000956330, ENST00000956331
RefSeq mRNA: 4 — MANE Select: NM_016061
NM_001127399, NM_001127400, NM_001127401, NM_016061
CCDS: CCDS1771
Canonical transcript exons
ENST00000261353 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001078558 | 30158619 | 30160533 |
| ENSE00001875716 | 30147007 | 30147062 |
| ENSE00003557435 | 30156628 | 30156792 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 135.8607 / max 4732.9545, expressed in 1821 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 19553 | 81.3501 | 1797 |
| 19552 | 53.7982 | 1815 |
| 202146 | 0.2090 | 84 |
| 19556 | 0.1013 | 29 |
| 19554 | 0.0817 | 20 |
| 19557 | 0.0803 | 31 |
| 19558 | 0.0764 | 30 |
| 202147 | 0.0648 | 28 |
| 19555 | 0.0581 | 15 |
| 19562 | 0.0409 | 15 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.93 | gold quality |
| oocyte | CL:0000023 | 99.88 | gold quality |
| endothelial cell | CL:0000115 | 99.52 | gold quality |
| amniotic fluid | UBERON:0000173 | 99.34 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.10 | gold quality |
| sperm | CL:0000019 | 99.04 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.95 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.76 | gold quality |
| bone marrow | UBERON:0002371 | 98.75 | gold quality |
| eye | UBERON:0000970 | 98.72 | gold quality |
| renal glomerulus | UBERON:0000074 | 98.66 | gold quality |
| monocyte | CL:0000576 | 98.62 | gold quality |
| mononuclear cell | CL:0000842 | 98.62 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 98.60 | gold quality |
| male germ cell | CL:0000015 | 98.56 | gold quality |
| leukocyte | CL:0000738 | 98.48 | gold quality |
| pons | UBERON:0000988 | 98.23 | gold quality |
| upper leg skin | UBERON:0004262 | 98.13 | gold quality |
| bone marrow cell | CL:0002092 | 98.11 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.10 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.07 | gold quality |
| nephron tubule | UBERON:0001231 | 98.06 | gold quality |
| retina | UBERON:0000966 | 98.04 | gold quality |
| hair follicle | UBERON:0002073 | 98.01 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.00 | gold quality |
| parietal pleura | UBERON:0002400 | 97.97 | gold quality |
| visceral pleura | UBERON:0002401 | 97.92 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.91 | gold quality |
| pleura | UBERON:0000977 | 97.90 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.89 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-111727 | yes | 3152.59 |
| E-MTAB-9467 | yes | 1893.49 |
| E-MTAB-6678 | yes | 1432.07 |
| E-GEOD-135922 | yes | 35.32 |
| E-CURD-88 | yes | 32.51 |
| E-MTAB-9067 | yes | 11.97 |
| E-CURD-89 | no | 4383.84 |
| E-MTAB-7606 | no | 641.69 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
134 targeting YPEL5, 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-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 74.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- YPEL5 protein of the YPEL gene family is involved in the cell cycle progression by interacting with two distinct proteins RanBPM and RanBP10. (PMID:20580816)
- results indicate that SCN-iPS cells provide a useful disease model for SCN, and the activation of the Wnt3a/beta-catenin pathway may offer a novel therapy for SCN with ELANE mutation (PMID:23382248)
- YPEL5 silencing enhanced the induction of IFNB1 by pattern recognition receptors and phosphorylation of TBK1/IKBKE kinases, whereas co-immunoprecipitation experiments revealed that YPEL5 interacted physically with IKBKE. (PMID:27705791)
- results demonstrate the functional conservation between yeast Moh1 and human YPEL5, and their involvement in mitochondria-dependent apoptosis induced by DNA damage (PMID:28173693)
- METTL3/YTHDF2 m6A axis accelerates colorectal carcinogenesis through epigenetically suppressing YPEL5. (PMID:33411363)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ypel5 | ENSDARG00000088929 |
| mus_musculus | Ypel5 | ENSMUSG00000039770 |
| rattus_norvegicus | Ypel5 | ENSRNOG00000026742 |
| drosophila_melanogaster | Ype | FBGN0288857 |
| caenorhabditis_elegans | WBGENE00015250 | |
| caenorhabditis_elegans | WBGENE00015251 |
Paralogs (10): L2HGDH (ENSG00000087299), YPEL3 (ENSG00000090238), PDPR (ENSG00000090857), YPEL1 (ENSG00000100027), FOXRED1 (ENSG00000110074), SARDH (ENSG00000123453), DMGDH (ENSG00000132837), AMT (ENSG00000145020), YPEL4 (ENSG00000166793), YPEL2 (ENSG00000175155)
Protein
Protein identifiers
Protein yippee-like 5 — P62699 (reviewed: P62699)
All UniProt accessions (1): P62699
UniProt curated annotations — full annotation on UniProt →
Function. Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Required for normal cell proliferation.
Subunit / interactions. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles. Interacts with RANBP9 and RANBP10.
Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle pole. Midbody.
Similarity. Belongs to the yippee family.
RefSeq proteins (4): NP_001120871, NP_001120872, NP_001120873, NP_057145* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004910 | Yippee/Mis18/Cereblon | Domain |
| IPR034751 | Yippee | Domain |
| IPR039058 | Yippee_fam | Family |
Pfam: PF03226
UniProt features (22 total): strand 9, binding site 4, helix 3, turn 3, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8QBN | ELECTRON MICROSCOPY | 3.2 |
| 9RSD | ELECTRON MICROSCOPY | 3.38 |
| 9RSC | ELECTRON MICROSCOPY | 3.42 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P62699-F1 | 93.24 | 0.85 |
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 (4): 17; 20; 73; 76
Post-translational modifications (1): 118
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 316 (showing top):
KOBAYASHI_EGFR_SIGNALING_24HR_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, CAGCTG_AP4_Q5, CCATCCA_MIR432, GOCC_MICROTUBULE_ORGANIZING_CENTER, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GTGTTGA_MIR505, ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, BACH2_01, GOCC_CENTROSOME, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5
GO Biological Process (1): cell population proliferation (GO:0008283)
GO Molecular Function (2): metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (11): ubiquitin ligase complex (GO:0000151), extracellular region (GO:0005576), nucleus (GO:0005634), centrosome (GO:0005813), midbody (GO:0030496), mitotic spindle pole (GO:0097431), tertiary granule lumen (GO:1904724), ficolin-1-rich granule lumen (GO:1904813), spindle pole (GO:0000922), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| intracellular organelle lumen | 2 |
| cellular process | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| spindle pole | 1 |
| mitotic spindle | 1 |
| tertiary granule | 1 |
| ficolin-1-rich granule | 1 |
| spindle | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1254 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| YPEL5 | RANBP10 | Q6VN20 | 839 |
| YPEL5 | WDR26 | Q9H7D7 | 760 |
| YPEL5 | RANBP9 | Q96S59 | 721 |
| YPEL5 | MKLN1 | Q9UL63 | 719 |
| YPEL5 | MAEA | Q7L5Y9 | 697 |
| YPEL5 | GID8 | Q9NWU2 | 691 |
| YPEL5 | GID4 | Q8IVV7 | 689 |
| YPEL5 | RMND5B | Q96G75 | 676 |
| YPEL5 | ARMC8 | Q8IUR7 | 674 |
| YPEL5 | RMND5A | Q9H871 | 608 |
| YPEL5 | FAM162B | Q5T6X4 | 542 |
| YPEL5 | TMEM167A | Q8TBQ9 | 502 |
| YPEL5 | HEXD | Q8WVB3 | 462 |
| YPEL5 | UBE2H | P37286 | 460 |
| YPEL5 | LCLAT1 | Q6UWP7 | 447 |
IntAct
125 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARMC8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.750 |
| RANBP9 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| GID8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.610 |
| YPEL5 | PSMA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF5 | YPEL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YPEL5 | SHC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAPKBP1 | YPEL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YPEL5 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.560 |
| GSC2 | YPEL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YPEL5 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YPEL5 | CTDSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YPEL5 | PLAGL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YPEL5 | ZNF655 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSMA1 | YPEL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| EMILIN3 | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| CBFA2T3 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL18 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| GNLY | YPEL5 | psi-mi:“MI:0914”(association) | 0.530 |
| PIGT | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| EFHC2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.510 |
| RANBP10 | HTRA2 | psi-mi:“MI:0914”(association) | 0.510 |
| RANBP9 | DDX5 | psi-mi:“MI:0914”(association) | 0.510 |
| RMND5B | PSMA7 | psi-mi:“MI:0914”(association) | 0.510 |
| WDR26 | HTRA2 | psi-mi:“MI:0914”(association) | 0.510 |
BioGRID (112): YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), WDR26 (Affinity Capture-MS), YPEL5 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS)
ESM2 similar proteins: A7ZMP8, A8A0X0, A9MFH4, A9N292, B1IPF3, B1LDV3, B1XGN8, B4T3Y1, B4TGC8, B4TUA8, B5F860, B5FJF9, B5YQ71, B6IBJ9, B7L6Q3, B7LQ21, B7M1J2, B7MAY9, B7MVQ9, B7N5B4, B7NSZ8, B7USF8, C4ZZD4, C5BR54, P0A746, P0A747, P0A748, P38191, P59234, P62699, P62700, P65449, P65450, Q0T4Y5, Q0TH50, Q2V3E2, Q321R4, Q3Z2B6, Q3ZBE7, Q4R4Q6
Diamond homologs: A6QPH8, O44440, O60688, P38191, P59234, P61236, P61237, P62699, P62700, Q2V3E2, Q2YDI3, Q3ZBE7, Q4R4Q6, Q5RDN9, Q5RDU7, Q5XID5, Q65Z54, Q65Z55, Q65Z56, Q65Z57, Q65Z58, Q65Z59, Q65Z93, Q65Z95, Q6NWI4, Q8S5M8, Q96NS1, Q96QA6, Q9C777, Q9DG42, Q9ESC7, Q9FN32, Q9LY56, Q9SR97, Q9T096, Q9U3G6, Q9URW3, Q9W2X7, Q9XZF0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 110 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 |
|---|---|---|---|
| Regulation of pyruvate metabolism | 8 | 64.3× | 8e-11 |
| Pyruvate metabolism | 5 | 28.7× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
13 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 9 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
540 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:30147059:CAGGG:C | donor_loss | 1.0000 |
| 2:30147060:AGGGT:A | donor_loss | 1.0000 |
| 2:30147061:GG:G | donor_gain | 1.0000 |
| 2:30147062:GG:G | donor_gain | 1.0000 |
| 2:30147062:GGT:G | donor_loss | 1.0000 |
| 2:30147063:G:GG | donor_gain | 1.0000 |
| 2:30148303:G:GT | donor_gain | 1.0000 |
| 2:30158615:TTA:T | acceptor_loss | 1.0000 |
| 2:30158618:G:A | acceptor_loss | 1.0000 |
| 2:30158618:GGTA:G | acceptor_gain | 1.0000 |
| 2:30147059:CAGG:C | donor_gain | 0.9900 |
| 2:30147060:AGG:A | donor_gain | 0.9900 |
| 2:30147061:GGG:G | donor_gain | 0.9900 |
| 2:30156626:A:AG | acceptor_gain | 0.9900 |
| 2:30156627:G:GG | acceptor_gain | 0.9900 |
| 2:30156790:AAGG:A | donor_loss | 0.9900 |
| 2:30156793:G:GG | donor_loss | 0.9900 |
| 2:30158617:AG:A | acceptor_gain | 0.9900 |
| 2:30158618:GG:G | acceptor_gain | 0.9900 |
| 2:30158618:GGT:G | acceptor_gain | 0.9900 |
| 2:30147058:TCAGG:T | donor_gain | 0.9800 |
| 2:30147063:G:T | donor_gain | 0.9800 |
| 2:30147064:T:A | donor_loss | 0.9800 |
| 2:30155849:GCCTT:G | acceptor_gain | 0.9800 |
| 2:30156622:TCCTA:T | acceptor_gain | 0.9800 |
| 2:30156623:CCTAG:C | acceptor_gain | 0.9800 |
| 2:30156624:CTAGG:C | acceptor_gain | 0.9800 |
| 2:30156625:TAGG:T | acceptor_gain | 0.9800 |
| 2:30156626:AG:A | acceptor_gain | 0.9800 |
| 2:30156626:AGG:A | acceptor_gain | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000094465 (2:30147199 C>A), RS1000136868 (2:30158240 A>G), RS1000474197 (2:30154044 A>G), RS1000525914 (2:30153878 A>C), RS1001031987 (2:30160712 A>G), RS1001072368 (2:30159515 A>C), RS1001216701 (2:30150148 T>A,C), RS1001475870 (2:30155224 A>G), RS1001528294 (2:30154939 A>G), RS1001746933 (2:30149636 C>G,T), RS1002333913 (2:30155159 A>C), RS1002519634 (2:30156245 A>T), RS1002585840 (2:30150675 C>T), RS1003077466 (2:30146662 C>T), RS1003108679 (2:30146836 C>G,T)
Disease associations
OMIM: gene MIM:609726 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008644_20 | Celiac disease and Rheumatoid arthritis | 2.000000e-08 |
| GCST009363_55 | Triglyceride levels x short total sleep time interaction (2df test) | 1.000000e-08 |
| GCST011346_12 | Total cholesterol levels | 4.000000e-09 |
| GCST011347_14 | Low density lipoprotein cholesterol levels | 4.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
74 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 5 |
| (+)-JQ1 compound | decreases expression, increases expression | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, affects expression, decreases expression | 3 |
| Estradiol | decreases expression | 3 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| bisphenol F | affects cotreatment, increases methylation, increases expression | 2 |
| cobaltous chloride | increases expression | 2 |
| Ozone | affects cotreatment, increases expression, increases abundance, affects expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| Genistein | decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| afuresertib | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| hydroxyhydroquinone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): celiac disease