UEVLD
gene geneOn this page
Also known as AttpUEV3
Summary
UEVLD (UEV and lactate/malate dehyrogenase domains, HGNC:30866) is a protein-coding gene on chromosome 11p15.1, encoding Ubiquitin-conjugating enzyme E2 variant 3 (Q8IX04). Possible negative regulator of polyubiquitination.
Predicted to enable ubiquitin binding activity. Predicted to be involved in endosome to lysosome transport. Located in extracellular exosome.
Source: NCBI Gene 55293 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_001040697
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30866 |
| Approved symbol | UEVLD |
| Name | UEV and lactate/malate dehyrogenase domains |
| Location | 11p15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Attp, UEV3 |
| Ensembl gene | ENSG00000151116 |
| Ensembl biotype | protein_coding |
| OMIM | 610985 |
| Entrez | 55293 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 19 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000300038, ENST00000320750, ENST00000379387, ENST00000396196, ENST00000396197, ENST00000490736, ENST00000535340, ENST00000535484, ENST00000539569, ENST00000540666, ENST00000540917, ENST00000541984, ENST00000543987, ENST00000854034, ENST00000854035, ENST00000854036, ENST00000854037, ENST00000854038, ENST00000854039, ENST00000938975, ENST00000966332, ENST00000966333, ENST00000966334, ENST00000966335, ENST00000966336
RefSeq mRNA: 8 — MANE Select: NM_001040697
NM_001040697, NM_001261382, NM_001261383, NM_001261384, NM_001261385, NM_001261386, NM_001297771, NM_018314
CCDS: CCDS41624, CCDS58122, CCDS58123, CCDS58124, CCDS58125, CCDS73266, CCDS7843
Canonical transcript exons
ENST00000396197 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002235260 | 18529609 | 18532487 |
| ENSE00002247674 | 18588613 | 18588734 |
| ENSE00003484029 | 18536406 | 18536469 |
| ENSE00003485804 | 18544623 | 18544796 |
| ENSE00003539257 | 18558228 | 18558330 |
| ENSE00003551051 | 18575347 | 18575412 |
| ENSE00003582285 | 18566347 | 18566482 |
| ENSE00003631421 | 18546880 | 18547050 |
| ENSE00003643377 | 18564892 | 18565010 |
| ENSE00003654351 | 18570214 | 18570377 |
| ENSE00003668451 | 18534330 | 18534453 |
| ENSE00003675138 | 18578724 | 18578808 |
Expression profiles
Bgee: expression breadth ubiquitous, 275 present calls, max score 91.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9408 / max 66.4794, expressed in 1792 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 118946 | 6.0738 | 1731 |
| 118947 | 3.7996 | 1634 |
| 118948 | 1.0674 | 754 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of sigmoid colon | UBERON:0004993 | 91.79 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.78 | gold quality |
| bronchial epithelial cell | CL:0002328 | 91.63 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.08 | gold quality |
| seminal vesicle | UBERON:0000998 | 90.75 | gold quality |
| heart right ventricle | UBERON:0002080 | 90.00 | gold quality |
| oral cavity | UBERON:0000167 | 89.27 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.85 | gold quality |
| penis | UBERON:0000989 | 88.21 | gold quality |
| biceps brachii | UBERON:0001507 | 87.96 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.77 | gold quality |
| mammalian vulva | UBERON:0000997 | 87.70 | gold quality |
| cauda epididymis | UBERON:0004360 | 87.70 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.58 | gold quality |
| rectum | UBERON:0001052 | 87.27 | gold quality |
| caput epididymis | UBERON:0004358 | 87.21 | gold quality |
| superficial temporal artery | UBERON:0001614 | 87.19 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.12 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 86.90 | gold quality |
| endometrium | UBERON:0001295 | 86.68 | gold quality |
| skin of hip | UBERON:0001554 | 86.58 | gold quality |
| jejunal mucosa | UBERON:0000399 | 86.45 | gold quality |
| jejunum | UBERON:0002115 | 86.20 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 85.95 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.76 | gold quality |
| islet of Langerhans | UBERON:0000006 | 85.67 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.63 | gold quality |
| corpus callosum | UBERON:0002336 | 85.19 | gold quality |
| monocyte | CL:0000576 | 85.14 | gold quality |
| endothelial cell | CL:0000115 | 84.98 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.18 |
| E-MTAB-6379 | no | 1305.39 |
| E-GEOD-36552 | no | 35.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
94 targeting UEVLD, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
Literature-anchored findings (GeneRIF, showing 1)
- identification, sequencing and analysis of cDNA in various colon carcinoma cell lines as well as normal and tumor samples from colon (PMID:12427560)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | uevld | ENSDARG00000009266 |
| mus_musculus | Uevld | ENSMUSG00000043262 |
| rattus_norvegicus | Uevld | ENSRNOG00000013624 |
| drosophila_melanogaster | TSG101 | FBGN0036666 |
| caenorhabditis_elegans | WBGENE00015658 |
Paralogs (1): TSG101 (ENSG00000074319)
Protein
Protein identifiers
Ubiquitin-conjugating enzyme E2 variant 3 — Q8IX04 (reviewed: Q8IX04)
Alternative names: EV and lactate/malate dehydrogenase domain-containing protein
All UniProt accessions (2): Q8IX04, A8MYV4
UniProt curated annotations — full annotation on UniProt →
Function. Possible negative regulator of polyubiquitination.
Subunit / interactions. Homodimer.
Tissue specificity. Colon, colon carcinoma cell lines, normal cervical epithelium, carcinomas of the uterine cervix and peripheral blood leukocytes.
Similarity. In the N-terminal section; belongs to the ubiquitin-conjugating enzyme family. UEV subfamily. In the C-terminal section; belongs to the LDH/MDH superfamily.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IX04-1 | 1 | yes |
| Q8IX04-2 | 2 | |
| Q8IX04-3 | 3 | |
| Q8IX04-4 | 4 | |
| Q8IX04-5 | 5 | |
| Q8IX04-6 | 6 | |
| Q8IX04-7 | 7 |
RefSeq proteins (8): NP_001035787, NP_001248311, NP_001248312, NP_001248313, NP_001248314, NP_001248315, NP_001284700, NP_060784 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001236 | Lactate/malate_DH_N | Domain |
| IPR001557 | L-lactate/malate_DH | Family |
| IPR008883 | UEV_N | Domain |
| IPR015955 | Lactate_DH/Glyco_Ohase_4_C | Homologous_superfamily |
| IPR016135 | UBQ-conjugating_enzyme/RWD | Homologous_superfamily |
| IPR022383 | Lactate/malate_DH_C | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
Pfam: PF00056, PF02866, PF05743
UniProt features (42 total): strand 14, helix 12, splice variant 9, sequence conflict 3, chain 1, domain 1, binding site 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2I6T | X-RAY DIFFRACTION | 2.1 |
| 3DL2 | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IX04-F1 | 87.34 | 0.65 |
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 (1): 191–219
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
GOBP_LYSOSOMAL_TRANSPORT, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, SENESE_HDAC1_TARGETS_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOCC_ESCRT_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOMF_UBIQUITIN_LIKE_PROTEIN_BINDING, SENESE_HDAC1_AND_HDAC2_TARGETS_UP, GOBP_INTRACELLULAR_TRANSPORT, GOCC_ESCRT_I_COMPLEX, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_UBIQUITIN_BINDING
GO Biological Process (5): regulation of DNA-templated transcription (GO:0006355), endosome to lysosome transport (GO:0008333), protein transport (GO:0015031), carboxylic acid metabolic process (GO:0019752), protein modification process (GO:0036211)
GO Molecular Function (5): oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), ubiquitin binding (GO:0043130), catalytic activity (GO:0003824), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (5): ESCRT I complex (GO:0000813), nucleus (GO:0005634), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), vesicle (GO:0031982)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| lysosomal transport | 1 |
| intercellular transport | 1 |
| vesicle-mediated transport | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| oxoacid metabolic process | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| ubiquitin-like protein binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| catalytic activity | 1 |
| endosome membrane | 1 |
| ESCRT complex | 1 |
| membrane protein complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
4485 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UEVLD | GGH | Q92820 | 898 |
| UEVLD | SPTY2D1 | Q68D10 | 574 |
| UEVLD | TBC1D32 | Q96NH3 | 528 |
| UEVLD | UFL1 | O94874 | 460 |
| UEVLD | I3L0A0 | I3L0A0 | 437 |
| UEVLD | TRIP4 | Q15650 | 429 |
| UEVLD | CGAS | Q8N884 | 421 |
| UEVLD | ERICH1 | Q86X53 | 416 |
| UEVLD | CDC16 | Q13042 | 415 |
| UEVLD | CHCT1 | Q86WR6 | 410 |
| UEVLD | UBE2V2 | Q15819 | 405 |
| UEVLD | ELOB | Q15370 | 403 |
| UEVLD | TOM1 | O60784 | 397 |
| UEVLD | MAPKAP1 | Q9BPZ7 | 394 |
| UEVLD | CSNK1A1 | P48729 | 387 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR59 | EPB41L2 | psi-mi:“MI:0914”(association) | 0.530 |
| MORN4 | UEVLD | psi-mi:“MI:0914”(association) | 0.500 |
| MORN4 | UEVLD | psi-mi:“MI:0915”(physical association) | 0.500 |
| UEVLD | SDF2L1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| UEVLD | GALM | psi-mi:“MI:0915”(physical association) | 0.370 |
| UEVLD | RNF4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RNF114 | UEVLD | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRAF6 | UEVLD | psi-mi:“MI:0915”(physical association) | 0.370 |
| UEVLD | LRSAM1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DTX3 | UEVLD | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | UEVLD | psi-mi:“MI:0915”(physical association) | 0.370 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| BIRC2 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| RBCK1 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TANK | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP1 | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP2 | CHUK | psi-mi:“MI:0914”(association) | 0.350 |
| TRADD | HNRNPCL2 | psi-mi:“MI:0914”(association) | 0.350 |
| TRAF2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
| RBCK1 | KHNYN | psi-mi:“MI:0914”(association) | 0.350 |
| SHARPIN | UMAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TNIP2 | TMEM178B | psi-mi:“MI:0914”(association) | 0.350 |
| WDR59 | HDAC3 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPRIN1 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| PRPSAP1 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (31): UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Affinity Capture-MS), UEVLD (Co-fractionation)
ESM2 similar proteins: A0A3L7I2I8, A0A8J1LLF7, A0A974H8H3, A4II46, A6JFQ6, A6JUQ6, B3DLA6, O60733, O70291, P32298, P41034, P42694, P49638, P97570, P97819, Q02384, Q07889, Q07890, Q2KIX2, Q32PW3, Q4R678, Q59H18, Q5F361, Q5FVD6, Q5GIG6, Q5M7E1, Q5RCA6, Q5SPP0, Q5SYC1, Q66H63, Q6DFV5, Q6NRC7, Q6PC62, Q7SXV1, Q7TQP6, Q8AVG0, Q8BG92, Q8BM85, Q8BWP5, Q8BWW9
Diamond homologs: A0A1F3, A5A6N7, O13276, O13277, O13278, O93401, O93537, O93538, O93539, O93540, O93541, O93542, O93543, O93544, O93545, O93546, P00336, P00337, P00338, P00339, P00340, P00341, P00342, P04642, P06151, P07195, P07864, P13490, P13491, P13743, P16125, P19629, P19858, P20373, P22988, P22989, P29038, P33571, P42119, P42120
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 32 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 |
|---|---|---|---|
| TNFR1-induced proapoptotic signaling | 5 | 104.6× | 4e-08 |
| TNFR1-induced NF-kappa-B signaling pathway | 6 | 96.0× | 3e-09 |
| Regulation of TNFR1 signaling | 6 | 64.0× | 2e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| canonical NF-kappaB signal transduction | 8 | 104.7× | 1e-12 |
| tumor necrosis factor-mediated signaling pathway | 5 | 59.0× | 1e-06 |
| negative regulation of canonical NF-kappaB signal transduction | 8 | 49.1× | 4e-10 |
| protein polyubiquitination | 6 | 24.7× | 5e-06 |
| positive regulation of canonical NF-kappaB signal transduction | 9 | 23.4× | 8e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2502 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:18534454:C:CC | acceptor_gain | 1.0000 |
| 11:18544797:C:CC | acceptor_gain | 1.0000 |
| 11:18544804:T:TC | acceptor_gain | 1.0000 |
| 11:18544808:A:C | acceptor_gain | 1.0000 |
| 11:18547046:CAAAT:C | acceptor_gain | 1.0000 |
| 11:18558225:GA:G | donor_loss | 1.0000 |
| 11:18558327:TACC:T | acceptor_gain | 1.0000 |
| 11:18558329:CC:C | acceptor_gain | 1.0000 |
| 11:18558330:CC:C | acceptor_gain | 1.0000 |
| 11:18564887:CATA:C | donor_loss | 1.0000 |
| 11:18564888:ATAC:A | donor_loss | 1.0000 |
| 11:18564889:TACC:T | donor_loss | 1.0000 |
| 11:18564890:ACCTT:A | donor_loss | 1.0000 |
| 11:18564891:C:T | donor_loss | 1.0000 |
| 11:18566479:TAGG:T | acceptor_gain | 1.0000 |
| 11:18566483:C:CC | acceptor_gain | 1.0000 |
| 11:18568656:C:CT | donor_gain | 1.0000 |
| 11:18568656:CTA:C | donor_gain | 1.0000 |
| 11:18568657:T:TT | donor_gain | 1.0000 |
| 11:18575345:AC:A | donor_gain | 1.0000 |
| 11:18575346:CC:C | donor_gain | 1.0000 |
| 11:18575413:C:CC | acceptor_gain | 1.0000 |
| 11:18578763:CAT:C | donor_gain | 1.0000 |
| 11:18578772:T:A | donor_gain | 1.0000 |
| 11:18578807:TA:T | acceptor_gain | 1.0000 |
| 11:18578809:C:CC | acceptor_gain | 1.0000 |
| 11:18587205:A:C | donor_gain | 1.0000 |
| 11:18532485:TCC:T | acceptor_gain | 0.9900 |
| 11:18532486:CCC:C | acceptor_gain | 0.9900 |
| 11:18534325:ATTAC:A | donor_loss | 0.9900 |
AlphaMissense
3085 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:18532452:A:C | S428R | 0.997 |
| 11:18532452:A:T | S428R | 0.997 |
| 11:18532454:T:G | S428R | 0.997 |
| 11:18570222:A:G | W117R | 0.996 |
| 11:18570222:A:T | W117R | 0.996 |
| 11:18575385:A:G | L52P | 0.994 |
| 11:18570312:A:G | C87R | 0.993 |
| 11:18578800:G:C | F17L | 0.992 |
| 11:18578800:G:T | F17L | 0.992 |
| 11:18578802:A:G | F17L | 0.992 |
| 11:18544736:C:T | G316E | 0.991 |
| 11:18570220:C:A | W117C | 0.991 |
| 11:18570220:C:G | W117C | 0.991 |
| 11:18532458:A:C | F426L | 0.990 |
| 11:18532458:A:T | F426L | 0.990 |
| 11:18532460:A:G | F426L | 0.990 |
| 11:18534395:C:G | A395P | 0.990 |
| 11:18544762:A:C | S307R | 0.990 |
| 11:18544762:A:T | S307R | 0.990 |
| 11:18544764:T:G | S307R | 0.990 |
| 11:18544730:C:T | G318E | 0.989 |
| 11:18564915:A:G | C197R | 0.989 |
| 11:18570245:A:T | I109K | 0.988 |
| 11:18570317:G:T | P85H | 0.988 |
| 11:18570348:A:G | W75R | 0.988 |
| 11:18570348:A:T | W75R | 0.988 |
| 11:18547029:G:A | S246F | 0.987 |
| 11:18570310:G:C | C87W | 0.987 |
| 11:18570317:G:C | P85R | 0.986 |
| 11:18575382:A:G | L53P | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000053602 (11:18555093 C>T), RS1000063755 (11:18556736 C>A,T), RS1000077530 (11:18536083 G>A), RS1000109228 (11:18584373 G>T), RS1000117978 (11:18549784 G>A,T), RS1000167740 (11:18542699 A>G,T), RS1000191815 (11:18550141 A>G), RS1000252344 (11:18587229 C>T), RS1000324186 (11:18543552 C>A), RS1000342571 (11:18586554 T>C), RS1000342935 (11:18543286 AT>A), RS1000412626 (11:18535519 G>T), RS1000440613 (11:18550482 T>C), RS1000466685 (11:18535821 T>G), RS1000498602 (11:18562749 T>C)
Disease associations
OMIM: gene MIM:610985 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| pyrimidifen | decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Ivermectin | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TW18 | HAP1 UEVLD (-) 1 | Cancer cell line | Male |
| CVCL_TW19 | HAP1 UEVLD (-) 2 | 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.