LRRC8B
gene geneOn this page
Also known as TA-LRRPKIAA0231
Summary
LRRC8B (leucine rich repeat containing 8 VRAC subunit B, HGNC:30692) is a protein-coding gene on chromosome 1p22.2, encoding Volume-regulated anion channel subunit LRRC8B (Q6P9F7). Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes.
Contributes to volume-sensitive anion channel activity. Involved in monoatomic anion transmembrane transport. Located in cytoplasm and plasma membrane. Part of monoatomic ion channel complex.
Source: NCBI Gene 23507 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 78 total
- MANE Select transcript:
NM_001369817
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30692 |
| Approved symbol | LRRC8B |
| Name | leucine rich repeat containing 8 VRAC subunit B |
| Location | 1p22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TA-LRRP, KIAA0231 |
| Ensembl gene | ENSG00000197147 |
| Ensembl biotype | protein_coding |
| OMIM | 612888 |
| Entrez | 23507 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000330947, ENST00000439853, ENST00000449440, ENST00000639264, ENST00000640258, ENST00000882796
RefSeq mRNA: 4 — MANE Select: NM_001369817
NM_001134476, NM_001369817, NM_001369819, NM_015350
CCDS: CCDS724
Canonical transcript exons
ENST00000330947 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001067376 | 89582625 | 89584789 |
| ENSE00001369564 | 89568247 | 89568307 |
| ENSE00001381649 | 89579591 | 89579688 |
| ENSE00001390451 | 89568439 | 89568493 |
| ENSE00001452759 | 89592771 | 89597861 |
| ENSE00003898998 | 89524829 | 89525022 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 97.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4378 / max 488.7921, expressed in 1527 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3962 | 6.9758 | 1272 |
| 3961 | 5.1990 | 1354 |
| 3960 | 0.2631 | 105 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 97.29 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.65 | gold quality |
| endothelial cell | CL:0000115 | 95.11 | gold quality |
| oocyte | CL:0000023 | 93.80 | gold quality |
| secondary oocyte | CL:0000655 | 92.96 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 92.23 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.16 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 92.02 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.82 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.58 | gold quality |
| entorhinal cortex | UBERON:0002728 | 90.90 | gold quality |
| parietal lobe | UBERON:0001872 | 90.87 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.12 | gold quality |
| occipital lobe | UBERON:0002021 | 89.42 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.28 | gold quality |
| bronchial epithelial cell | CL:0002328 | 87.08 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.75 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 86.65 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 86.65 | gold quality |
| frontal cortex | UBERON:0001870 | 86.59 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 86.34 | gold quality |
| cerebral cortex | UBERON:0000956 | 86.06 | gold quality |
| neocortex | UBERON:0001950 | 85.80 | gold quality |
| bronchus | UBERON:0002185 | 85.77 | gold quality |
| gingival epithelium | UBERON:0001949 | 85.16 | gold quality |
| corpus callosum | UBERON:0002336 | 85.14 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 85.11 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 84.35 | silver quality |
| gingiva | UBERON:0001828 | 84.34 | gold quality |
| Ammon’s horn | UBERON:0001954 | 84.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
221 targeting LRRC8B, 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-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-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
Literature-anchored findings (GeneRIF, showing 2)
- identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes (PMID:15094057)
- LRRC8B participates in intracellular Ca(2+) homeostasis by acting as a leak channel in the endoplasmic reticulum. (PMID:28972132)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Lrrc8b | ENSMUSG00000070639 |
| rattus_norvegicus | Lrrc8b | ENSRNOG00000002129 |
Paralogs (31): LRRC7 (ENSG00000033122), PHLPP2 (ENSG00000040199), LRRC40 (ENSG00000066557), LRCH4 (ENSG00000077454), PHLPP1 (ENSG00000081913), SHOC2 (ENSG00000108061), ERBIN (ENSG00000112851), LRRC39 (ENSG00000122477), LRCH2 (ENSG00000130224), LRCH1 (ENSG00000136141), LRRC8A (ENSG00000136802), LRRC1 (ENSG00000137269), MFHAS1 (ENSG00000147324), LRRC27 (ENSG00000148814), LRRK1 (ENSG00000154237), LRRC58 (ENSG00000163428), LRRC2 (ENSG00000163827), LRRC18 (ENSG00000165383), LRRC28 (ENSG00000168904), LRRC8E (ENSG00000171017), LRRC8C (ENSG00000171488), LRRC8D (ENSG00000171492), PIDD1 (ENSG00000177595), SCRIB (ENSG00000180900), LRCH3 (ENSG00000186001), LRRIQ4 (ENSG00000188306), LRRC10 (ENSG00000198812), LRRC10B (ENSG00000204950), LRRC30 (ENSG00000206422), LRRC69 (ENSG00000214954), LRRD1 (ENSG00000240720)
Protein
Protein identifiers
Volume-regulated anion channel subunit LRRC8B — Q6P9F7 (reviewed: Q6P9F7)
Alternative names: Leucine-rich repeat-containing protein 8B, T-cell activation leucine repeat-rich protein
All UniProt accessions (4): A0A384N5V6, A0A7I2RK03, C9JGJ7, Q6P9F7
UniProt curated annotations — full annotation on UniProt →
Function. Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition.
Subunit / interactions. Heterohexamer; oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8E) to form a heterohexamer. In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist.
Subcellular location. Cell membrane. Endoplasmic reticulum membrane.
Domain organisation. The volume-regulated anion channel (VRAC) channel forms a trimer of dimers, with symmetry mismatch between the pore-forming domain and the cytosolic LRR repeats, a topology similar to gap junction proteins.
Similarity. Belongs to the LRRC8 family.
RefSeq proteins (4): NP_001127948, NP_001356746, NP_001356748, NP_056165 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR021040 | LRRC8_Pannexin-like | Domain |
| IPR026906 | LRR_5 | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR052595 | LRRC69/RLP | Family |
Pfam: PF12534, PF13306, PF13855
Catalyzed reactions (Rhea), 3 shown:
- chloride(in) = chloride(out) (RHEA:29823)
- iodide(out) = iodide(in) (RHEA:66324)
- taurine(out) = taurine(in) (RHEA:66328)
UniProt features (34 total): repeat 13, topological domain 5, transmembrane region 4, sequence variant 4, modified residue 2, disulfide bond 2, sequence conflict 2, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P9F7-F1 | 81.76 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 186, 196
Disulfide bonds (2): 55–304, 109–289
Glycosylation sites (1): 78
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5223345 | Miscellaneous transport and binding events |
| R-HSA-382551 | Transport of small molecules |
MSigDB gene sets: 168 (showing top):
GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_NUCLEOTIDE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_NUCLEOTIDE_TRANSMEMBRANE_TRANSPORT, GOBP_AMINO_ACID_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_DICARBOXYLIC_ACID_TRANSPORT, GOBP_PURINE_NUCLEOTIDE_TRANSPORT, GOBP_ACIDIC_AMINO_ACID_TRANSPORT, HAN_SATB1_TARGETS_DN, GOBP_IMPORT_INTO_CELL, chr1p22, GOBP_CARBOHYDRATE_DERIVATIVE_TRANSPORT
GO Biological Process (5): aspartate transmembrane transport (GO:0015810), monoatomic anion transmembrane transport (GO:0098656), cyclic-GMP-AMP transmembrane import across plasma membrane (GO:0140361), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220)
GO Molecular Function (2): volume-sensitive anion channel activity (GO:0005225), protein binding (GO:0005515)
GO Cellular Component (6): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), monoatomic ion channel complex (GO:0034702), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| amino acid transmembrane transport | 1 |
| C4-dicarboxylate transport | 1 |
| acidic amino acid transport | 1 |
| nitrogen compound transport | 1 |
| carboxylic acid transmembrane transport | 1 |
| monoatomic anion transport | 1 |
| monoatomic ion transmembrane transport | 1 |
| purine ribonucleotide transport | 1 |
| adenine nucleotide transport | 1 |
| cyclic nucleotide transport | 1 |
| import across plasma membrane | 1 |
| guanine nucleotide transmembrane transport | 1 |
| transport | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| monoatomic anion channel activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| transmembrane transporter complex | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1060 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRC8B | LRRC8A | Q8IWT6 | 580 |
| LRRC8B | BEST1 | O76090 | 577 |
| LRRC8B | TTYH2 | Q9BSA4 | 570 |
| LRRC8B | CLCA2 | Q9UQC9 | 550 |
| LRRC8B | CLCN3 | P51790 | 541 |
| LRRC8B | CLCA4 | Q14CN2 | 514 |
| LRRC8B | TTYH3 | Q9C0H2 | 503 |
| LRRC8B | TTYH1 | Q9H313 | 494 |
| LRRC8B | STK32C | Q86UX6 | 486 |
| LRRC8B | SLC41A1 | Q8IVJ1 | 471 |
| LRRC8B | CFTR | P13569 | 461 |
| LRRC8B | CLCA1 | A8K7I4 | 461 |
| LRRC8B | ANO1 | Q5XXA6 | 456 |
| LRRC8B | BEST3 | Q8N1M1 | 450 |
| LRRC8B | HEPACAM | Q14CZ8 | 447 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRRC8A | LRRC8B | psi-mi:“MI:0915”(physical association) | 0.740 |
| LRRC8B | SLC25A17 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC8B | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC8B | CDH2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (66): LRRC8D (Affinity Capture-MS), LRRC8C (Affinity Capture-MS), LRRC8A (Affinity Capture-MS), LRRC8E (Affinity Capture-MS), TSPAN3 (Affinity Capture-MS), ATP2A3 (Affinity Capture-MS), SLC44A1 (Affinity Capture-MS), ABCB9 (Affinity Capture-MS), TMEM164 (Affinity Capture-MS), ANO6 (Affinity Capture-MS), TM2D3 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), ADCK2 (Affinity Capture-MS), LMBR1 (Affinity Capture-MS), CHPT1 (Affinity Capture-MS)
ESM2 similar proteins: A0JM56, A0JPI9, A2BFL2, A5PK13, A6H639, J9SQF3, O13066, P19686, P33402, Q02108, Q0VAA2, Q14BP6, Q15111, Q15813, Q3USB7, Q498T9, Q4R642, Q4V8D9, Q4ZHS0, Q5DU41, Q5FVQ9, Q5RAG3, Q5RBD9, Q5RJH2, Q5ZIJ9, Q5ZIU8, Q62688, Q68F79, Q6DN12, Q6GQN5, Q6NU09, Q6P9F7, Q6WRX3, Q7Z7L7, Q80ZJ6, Q8BG40, Q8CDU4, Q8CIR4, Q8CIV8, Q8HXA6
Diamond homologs: A5PK13, Q3KRC6, Q498T9, Q4V8I7, Q5DU41, Q5U308, Q66JT1, Q68F79, Q6NSJ5, Q6NU09, Q6P9F7, Q7L1W4, Q80WG5, Q8BGR2, Q8IWT6, Q8R502, Q8TDW0, D4AC13, O35103, O35367, O42235, O46378, O46379, O60938, O62702, O75093, O77742, P13605, P24014, P28654, P28675, P50608, P50609, P51884, P51885, P51886, P51887, P51888, P51890, P58681
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
78 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 2 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1714 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:89568308:G:GG | donor_gain | 1.0000 |
| 1:89528327:T:G | donor_gain | 0.9900 |
| 1:89568304:T:G | donor_gain | 0.9900 |
| 1:89568304:TTAA:T | donor_loss | 0.9900 |
| 1:89568305:TAAGT:T | donor_loss | 0.9900 |
| 1:89568307:AGT:A | donor_loss | 0.9900 |
| 1:89568308:GT:G | donor_loss | 0.9900 |
| 1:89568309:T:TC | donor_loss | 0.9900 |
| 1:89568492:GG:G | donor_gain | 0.9900 |
| 1:89568493:GG:G | donor_gain | 0.9900 |
| 1:89579684:CTGTA:C | donor_gain | 0.9900 |
| 1:89579686:GTA:G | donor_gain | 0.9900 |
| 1:89579689:G:GG | donor_gain | 0.9900 |
| 1:89582623:A:AG | acceptor_gain | 0.9900 |
| 1:89582624:G:GG | acceptor_gain | 0.9900 |
| 1:89584790:G:GG | donor_gain | 0.9900 |
| 1:89552842:G:GT | donor_gain | 0.9800 |
| 1:89568241:CCCTA:C | acceptor_loss | 0.9800 |
| 1:89568242:CCTA:C | acceptor_loss | 0.9800 |
| 1:89568243:CTA:C | acceptor_loss | 0.9800 |
| 1:89568245:A:G | acceptor_loss | 0.9800 |
| 1:89568311:AGTTA:A | donor_loss | 0.9800 |
| 1:89568433:CCTTA:C | acceptor_loss | 0.9800 |
| 1:89568434:CTTAG:C | acceptor_loss | 0.9800 |
| 1:89568435:TTA:T | acceptor_loss | 0.9800 |
| 1:89568436:TAGGA:T | acceptor_loss | 0.9800 |
| 1:89568437:A:T | acceptor_loss | 0.9800 |
| 1:89568438:G:GT | acceptor_loss | 0.9800 |
| 1:89582624:GTTT:G | acceptor_gain | 0.9800 |
| 1:89592937:G:GT | donor_gain | 0.9800 |
AlphaMissense
5278 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:89583140:T:A | W164R | 1.000 |
| 1:89583140:T:C | W164R | 1.000 |
| 1:89583809:T:C | F387L | 1.000 |
| 1:89583810:T:C | F387S | 1.000 |
| 1:89583811:C:A | F387L | 1.000 |
| 1:89583811:C:G | F387L | 1.000 |
| 1:89582720:T:A | W24R | 0.999 |
| 1:89582720:T:C | W24R | 0.999 |
| 1:89582975:T:A | C109S | 0.999 |
| 1:89582975:T:C | C109R | 0.999 |
| 1:89582976:G:A | C109Y | 0.999 |
| 1:89582976:G:C | C109S | 0.999 |
| 1:89582977:T:G | C109W | 0.999 |
| 1:89583117:T:C | L156P | 0.999 |
| 1:89583125:T:C | C159R | 0.999 |
| 1:89583127:C:G | C159W | 0.999 |
| 1:89583142:G:C | W164C | 0.999 |
| 1:89583142:G:T | W164C | 0.999 |
| 1:89583362:T:C | F238L | 0.999 |
| 1:89583364:T:A | F238L | 0.999 |
| 1:89583364:T:G | F238L | 0.999 |
| 1:89583384:G:C | R245P | 0.999 |
| 1:89583560:T:A | C304S | 0.999 |
| 1:89583560:T:C | C304R | 0.999 |
| 1:89583561:G:C | C304S | 0.999 |
| 1:89583562:T:G | C304W | 0.999 |
| 1:89583689:T:C | F347L | 0.999 |
| 1:89583691:T:A | F347L | 0.999 |
| 1:89583691:T:G | F347L | 0.999 |
| 1:89583743:G:C | D365H | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000031664 (1:89549334 T>C), RS1000086693 (1:89548903 C>T), RS1000149310 (1:89587976 A>G), RS1000157978 (1:89542090 C>T), RS1000189578 (1:89522691 C>T), RS1000283792 (1:89555970 C>T), RS1000297940 (1:89561373 C>T), RS1000303972 (1:89593660 A>G), RS1000325431 (1:89542798 C>A,T), RS1000395392 (1:89555113 G>A), RS1000489626 (1:89563604 A>T), RS1000495194 (1:89571199 T>C), RS1000574343 (1:89567151 T>C), RS1000576940 (1:89525333 C>G,T), RS1000583047 (1:89560087 A>G)
Disease associations
OMIM: gene MIM:612888 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001999_2 | Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel) | 9.000000e-07 |
| GCST002006_5 | Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin) | 3.000000e-06 |
| GCST009391_524 | Metabolite levels | 7.000000e-06 |
| GCST012071_3 | Response to selenium supplementation (change in plasma selenium concentration) | 3.000000e-06 |
| GCST90002393_35 | Monocyte count | 4.000000e-16 |
| GCST90002394_142 | Monocyte percentage of white cells | 2.000000e-12 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010117 | pyruvate measurement |
| EFO:0600021 | response to dietary selenium supplementation |
| EFO:0005091 | monocyte count |
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation, increases expression | 6 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 3 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 2 |
| entinostat | affects cotreatment, decreases expression | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Ozone | affects cotreatment, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bisphenol A | decreases methylation | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, 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, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
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.