WSB2
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Also known as SBA2MGC10210
Summary
WSB2 (WD repeat and SOCS box containing 2, HGNC:19222) is a protein-coding gene on chromosome 12q24.23, encoding WD repeat and SOCS box-containing protein 2 (Q9NYS7). May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 55884 — RefSeq curated summary.
At a glance
- Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 20 total — 2 pathogenic
- MANE Select transcript:
NM_018639
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19222 |
| Approved symbol | WSB2 |
| Name | WD repeat and SOCS box containing 2 |
| Location | 12q24.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SBA2, MGC10210 |
| Ensembl gene | ENSG00000176871 |
| Ensembl biotype | protein_coding |
| Entrez | 55884 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000315436, ENST00000441406, ENST00000535496, ENST00000536602, ENST00000536738, ENST00000537945, ENST00000540129, ENST00000542726, ENST00000543186, ENST00000543218, ENST00000544233, ENST00000614776, ENST00000900384, ENST00000927429, ENST00000927430, ENST00000962718
RefSeq mRNA: 3 — MANE Select: NM_018639
NM_001278557, NM_001278558, NM_018639
CCDS: CCDS61251, CCDS61252, CCDS9186
Canonical transcript exons
ENST00000315436 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001303814 | 118032687 | 118034358 |
| ENSE00002241893 | 118061036 | 118061179 |
| ENSE00003478142 | 118035214 | 118035324 |
| ENSE00003484297 | 118043133 | 118043377 |
| ENSE00003548200 | 118036338 | 118036510 |
| ENSE00003589512 | 118052310 | 118052478 |
| ENSE00003617943 | 118042841 | 118042972 |
| ENSE00003627154 | 118034986 | 118035093 |
| ENSE00003672656 | 118038288 | 118038388 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 98.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.0049 / max 382.0101, expressed in 1819 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133533 | 40.4807 | 1816 |
| 133535 | 1.2721 | 855 |
| 133532 | 1.2592 | 826 |
| 133524 | 1.0477 | 600 |
| 133530 | 0.8865 | 546 |
| 133534 | 0.7452 | 447 |
| 133531 | 0.6540 | 422 |
| 133536 | 0.3205 | 118 |
| 133526 | 0.2552 | 101 |
| 133529 | 0.0305 | 11 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| superior frontal gyrus | UBERON:0002661 | 98.99 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.97 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 98.93 | gold quality |
| parietal lobe | UBERON:0001872 | 98.92 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.92 | gold quality |
| endothelial cell | CL:0000115 | 98.81 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.78 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.77 | gold quality |
| cortical plate | UBERON:0005343 | 98.75 | gold quality |
| medial globus pallidus | UBERON:0002477 | 98.66 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.61 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.54 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.54 | gold quality |
| globus pallidus | UBERON:0001875 | 98.51 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.44 | gold quality |
| frontal cortex | UBERON:0001870 | 98.37 | gold quality |
| frontal lobe | UBERON:0016525 | 98.37 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.35 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 98.29 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.25 | gold quality |
| neocortex | UBERON:0001950 | 98.23 | gold quality |
| temporal lobe | UBERON:0001871 | 98.21 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.16 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.10 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 98.01 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.99 | gold quality |
| telencephalon | UBERON:0001893 | 97.95 | gold quality |
| Ammon’s horn | UBERON:0001954 | 97.94 | gold quality |
| occipital lobe | UBERON:0002021 | 97.92 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.92 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 144.52 |
| E-MTAB-7249 | no | 3488.18 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting WSB2, 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-4696 | 99.48 | 67.48 | 1040 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-6719-3P | 99.29 | 67.78 | 1387 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-324-3P | 99.26 | 66.31 | 1034 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
Literature-anchored findings (GeneRIF, showing 6)
- SBA2 gene might be a promising novel biomarker of cell differentiation in colorectal cancer and its biological features need further studies. (PMID:11819827)
- This report provides the first evidence that WSB-2 is a regulator of IL-21R expression and IL-21-induced signal transduction. (PMID:20059963)
- This is the first report to demonstrate the effects of WSB2 on melanoma cell function. (PMID:31103822)
- miR285p inhibits the migration of breast cancer by regulating WSB2. (PMID:32945370)
- Elevated expression of WSB2 degrades p53 and activates the IGFBP3-AKT-mTOR-dependent pathway to drive hepatocellular carcinoma. (PMID:38177295)
- WSB1/2 target chromatin-bound lysine-methylated RelA for proteasomal degradation and NF-kappaB termination. (PMID:38452206)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wsb2 | ENSDARG00000058608 |
| mus_musculus | Wsb2 | ENSMUSG00000029364 |
| rattus_norvegicus | Wsb2 | ENSRNOG00000001135 |
Paralogs (1): WSB1 (ENSG00000109046)
Protein
Protein identifiers
WD repeat and SOCS box-containing protein 2 — Q9NYS7 (reviewed: Q9NYS7)
Alternative names: CS box-containing WD protein
All UniProt accessions (5): Q9NYS7, F5GXB6, F5H024, F5H280, F5H2L7
UniProt curated annotations — full annotation on UniProt →
Function. May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
Pathway. Protein modification; protein ubiquitination.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NYS7-1 | 1 | yes |
| Q9NYS7-2 | 2 | |
| Q9NYS7-3 | 3 |
RefSeq proteins (3): NP_001265486, NP_001265487, NP_061109* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001496 | SOCS_box | Domain |
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036036 | SOCS_box-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051983 | WSB_SOCS-box_domain | Family |
Pfam: PF00400, PF07525
UniProt features (14 total): repeat 7, splice variant 2, sequence conflict 2, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYS7-F1 | 84.84 | 0.68 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 236 (showing top):
GCM_MAP4K4, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, YAATNRNNNYNATT_UNKNOWN, GCM_GSPT1, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, HASLINGER_B_CLL_WITH_MUTATED_VH_GENES, MITSIADES_RESPONSE_TO_APLIDIN_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, TGACATY_UNKNOWN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, TATA_C, GCM_NF2
GO Biological Process (3): protein polyubiquitination (GO:0000209), intracellular signal transduction (GO:0035556), protein ubiquitination (GO:0016567)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): cytosol (GO:0005829)
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 |
|---|---|
| protein ubiquitination | 1 |
| intracellular anatomical structure | 1 |
| signal transduction | 1 |
| protein modification by small protein conjugation | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1723 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WSB2 | MARCHF5 | Q9NX47 | 616 |
| WSB2 | DRAP1 | Q14919 | 519 |
| WSB2 | ASB3 | Q9Y575 | 470 |
| WSB2 | FAM168B | A1KXE4 | 463 |
| WSB2 | RNF7 | Q9UBF6 | 419 |
| WSB2 | SLC67A1-AS | Q8N1D0 | 417 |
| WSB2 | DCAF5 | Q96JK2 | 396 |
| WSB2 | DCAF16 | Q9NXF7 | 387 |
| WSB2 | ASB12 | Q8WXK4 | 385 |
| WSB2 | CMTM4 | Q8IZR5 | 384 |
| WSB2 | PCMTD2 | Q9NV79 | 383 |
| WSB2 | LRRC41 | Q15345 | 381 |
| WSB2 | RAB40A | Q8WXH6 | 375 |
| WSB2 | SOCS7 | O14512 | 369 |
| WSB2 | CUL5 | Q93034 | 362 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WSB2 | SNIP1 | psi-mi:“MI:0914”(association) | 0.640 |
| WSB2 | PFDN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WSB2 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WSB2 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| RNF7 | SOCS7 | psi-mi:“MI:0914”(association) | 0.530 |
| WSB2 | BCL2L1 | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AB1 | WSB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | FKBP5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | Hacd3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | HSF2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDC | WSB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | NUDCD3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| WSB2 | SGTA | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | Usp19 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STIP1 | WSB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBPL | WSB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CACYBP | WSB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | NUDCD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | AARSD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WSB2 | PPP5C | psi-mi:“MI:0915”(physical association) | 0.400 |
| CUL5 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| WSB2 | ARIH2 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF7 | SOCS2 | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L1 | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| WSB2 | ELOB | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (593): SNIP1 (Affinity Capture-MS), CLASRP (Affinity Capture-MS), ACIN1 (Affinity Capture-MS), CCDC9 (Affinity Capture-MS), CUL5 (Affinity Capture-MS), ZC3H14 (Affinity Capture-MS), ARIH2 (Affinity Capture-MS), C17orf85 (Affinity Capture-MS), UBB (Affinity Capture-MS), PNN (Affinity Capture-MS), ISY1 (Affinity Capture-MS), RNPS1 (Affinity Capture-MS), NKTR (Affinity Capture-MS), AMBRA1 (Affinity Capture-MS), SUPT6H (Affinity Capture-MS)
ESM2 similar proteins: A4FUF0, A4Q9F4, B0K012, E9PTA2, O15315, O35719, O43502, O54804, O54929, O94759, P0C0T1, P42694, Q0V8J1, Q0VGM9, Q3U2J5, Q3ZBL5, Q49A26, Q5BIM1, Q5R7T2, Q5RJZ1, Q5RKH0, Q5ZIA0, Q5ZLS7, Q6DC64, Q6DFV5, Q6IE70, Q6NYU2, Q6P4H8, Q7Z624, Q80VL1, Q86W50, Q8BYN3, Q8CIW5, Q8NHH1, Q8R1C6, Q8R1G1, Q8R2J9, Q8R2Y8, Q91YD4, Q922P9
Diamond homologs: A0CH87, A0DB19, A1CF18, A1CUD6, A7S338, A8NEG8, A8XZJ9, A9V790, B0LSW3, B0XM00, B2AEZ5, B2B766, B2VWG7, B3MEY6, B3NPW0, B3S4I5, B4GAJ1, B4HSL3, B4JWA1, B4KT48, B4LQ21, B4MY65, B4P6P9, B4QHG6, B5X3C4, B5X3Z6, B6GZD3, B6HP56, B6QC06, B7FNU7, B7PS00, B8N9H4, B8P4B0, B8PD53, B9WD30, C0NRC6, C0S902, C1GB49, C3XVT5, C4Q0P6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 28 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 |
|---|---|---|---|
| Neddylation | 6 | 13.5× | 4e-04 |
| Antigen processing: Ubiquitination & Proteasome degradation | 6 | 10.6× | 9e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein folding | 7 | 27.8× | 1e-06 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 6 | 12.0× | 6e-04 |
| protein ubiquitination | 7 | 11.2× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
20 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4819262 | NM_018639.5(WSB2):c.1121G>A (p.Arg374Gln) | Pathogenic |
| 4819263 | WSB2, 2-BP DEL, 1187AA | Pathogenic |
SpliceAI
1137 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:118034984:AC:A | donor_gain | 1.0000 |
| 12:118034985:CC:C | donor_gain | 1.0000 |
| 12:118035320:TGTGG:T | acceptor_gain | 1.0000 |
| 12:118035322:TGG:T | acceptor_gain | 1.0000 |
| 12:118035323:GG:G | acceptor_gain | 1.0000 |
| 12:118035325:C:CC | acceptor_gain | 1.0000 |
| 12:118036331:T:TA | donor_gain | 1.0000 |
| 12:118036336:A:AC | donor_gain | 1.0000 |
| 12:118036337:C:CT | donor_gain | 1.0000 |
| 12:118036508:GACC:G | acceptor_loss | 1.0000 |
| 12:118036510:CCTG:C | acceptor_loss | 1.0000 |
| 12:118038280:AGACT:A | donor_loss | 1.0000 |
| 12:118038281:GACTC:G | donor_loss | 1.0000 |
| 12:118038282:ACTC:A | donor_loss | 1.0000 |
| 12:118038283:CTCAC:C | donor_loss | 1.0000 |
| 12:118038286:A:AC | donor_gain | 1.0000 |
| 12:118038286:ACC:A | donor_loss | 1.0000 |
| 12:118038287:C:CC | donor_gain | 1.0000 |
| 12:118038287:CCGA:C | donor_gain | 1.0000 |
| 12:118038387:ACC:A | acceptor_loss | 1.0000 |
| 12:118038390:T:C | acceptor_loss | 1.0000 |
| 12:118038394:A:T | acceptor_gain | 1.0000 |
| 12:118042834:C:A | donor_gain | 1.0000 |
| 12:118052308:A:AC | donor_gain | 1.0000 |
| 12:118052309:C:CC | donor_gain | 1.0000 |
| 12:118052309:CAA:C | donor_gain | 1.0000 |
| 12:118052479:C:CC | acceptor_gain | 1.0000 |
| 12:118061031:CTCA:C | donor_loss | 1.0000 |
| 12:118061032:TCACC:T | donor_loss | 1.0000 |
| 12:118061033:CA:C | donor_loss | 1.0000 |
AlphaMissense
2644 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:118034987:C:A | G351W | 1.000 |
| 12:118034992:G:T | A349D | 1.000 |
| 12:118036375:A:G | W266R | 1.000 |
| 12:118036375:A:T | W266R | 1.000 |
| 12:118042876:T:A | D175V | 1.000 |
| 12:118042877:C:G | D175H | 1.000 |
| 12:118042888:G:A | S171F | 1.000 |
| 12:118042888:G:T | S171Y | 1.000 |
| 12:118052367:G:T | A42D | 1.000 |
| 12:118034335:A:G | F359S | 0.999 |
| 12:118034986:C:T | G351E | 0.999 |
| 12:118035080:A:G | W320R | 0.999 |
| 12:118035080:A:T | W320R | 0.999 |
| 12:118036373:C:A | W266C | 0.999 |
| 12:118036373:C:G | W266C | 0.999 |
| 12:118036404:G:C | T256R | 0.999 |
| 12:118036404:G:T | T256K | 0.999 |
| 12:118036410:A:G | L254P | 0.999 |
| 12:118036410:A:T | L254H | 0.999 |
| 12:118036501:A:G | W224R | 0.999 |
| 12:118036501:A:T | W224R | 0.999 |
| 12:118038353:A:G | W199R | 0.999 |
| 12:118038353:A:T | W199R | 0.999 |
| 12:118042859:A:G | W181R | 0.999 |
| 12:118042859:A:T | W181R | 0.999 |
| 12:118042864:C:G | R179P | 0.999 |
| 12:118042867:A:G | L178P | 0.999 |
| 12:118042876:T:G | D175A | 0.999 |
| 12:118042883:A:G | S173P | 0.999 |
| 12:118042889:A:G | S171P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000020880 (12:118062828 T>G), RS1000209611 (12:118042103 T>C), RS1000366007 (12:118060928 G>A), RS1000441297 (12:118048219 G>A,T), RS1000793519 (12:118057640 G>T), RS1000828457 (12:118040722 G>A), RS1000854068 (12:118035570 G>A,T), RS1000862260 (12:118058757 C>A,T), RS1000881442 (12:118052844 A>G), RS1000980272 (12:118059540 C>G), RS1001032612 (12:118034017 A>G), RS1001063098 (12:118033768 A>C), RS1001182249 (12:118047237 A>G), RS1001276497 (12:118047208 G>C,T), RS1001291494 (12:118041163 A>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| complex neurodevelopmental disorder | Limited | Autosomal recessive |
Mondo (1): complex neurodevelopmental disorder (MONDO:0100038)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012015_5 | Chronic rhinosinusitis | 2.000000e-06 |
| GCST90002403_460 | Red blood cell count | 4.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 3 |
| lead acetate | affects cotreatment, decreases expression, increases expression | 2 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, decreases expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| uranyl acetate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| methylselenic acid | decreases expression | 1 |
| zinc protoporphyrin | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Coumestrol | decreases expression | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Diazinon | decreases methylation | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Lead | affects expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2LI | Abcam HeLa WSB2 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic rhinosinusitis, complex neurodevelopmental disorder