SPSB1
gene geneOn this page
Also known as SSB-1
Summary
SPSB1 (splA/ryanodine receptor domain and SOCS box containing 1, HGNC:30628) is a protein-coding gene on chromosome 1p36.22, encoding SPRY domain-containing SOCS box protein 1 (Q96BD6). Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol.
Source: NCBI Gene 80176 — RefSeq curated summary.
At a glance
- GWAS associations: 40
- Clinical variants (ClinVar): 27 total
- MANE Select transcript:
NM_025106
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30628 |
| Approved symbol | SPSB1 |
| Name | splA/ryanodine receptor domain and SOCS box containing 1 |
| Location | 1p36.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SSB-1 |
| Ensembl gene | ENSG00000171621 |
| Ensembl biotype | protein_coding |
| OMIM | 611657 |
| Entrez | 80176 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000328089, ENST00000357898, ENST00000377399, ENST00000450402, ENST00000852374, ENST00000852375, ENST00000852376, ENST00000852377, ENST00000852378, ENST00000946663, ENST00000946664
RefSeq mRNA: 1 — MANE Select: NM_025106
NM_025106
CCDS: CCDS102
Canonical transcript exons
ENST00000328089 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001172204 | 9355743 | 9356585 |
| ENSE00001341608 | 9367448 | 9369532 |
| ENSE00001405037 | 9292894 | 9293071 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 95.24.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.2192 / max 285.5084, expressed in 1728 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 514 | 27.2192 | 1728 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| decidua | UBERON:0002450 | 95.24 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.29 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.57 | gold quality |
| ascending aorta | UBERON:0001496 | 92.56 | gold quality |
| aorta | UBERON:0000947 | 92.43 | gold quality |
| tibial artery | UBERON:0007610 | 92.40 | gold quality |
| popliteal artery | UBERON:0002250 | 92.38 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.08 | gold quality |
| lower esophagus | UBERON:0013473 | 91.04 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.96 | gold quality |
| saphenous vein | UBERON:0007318 | 90.93 | gold quality |
| gall bladder | UBERON:0002110 | 90.26 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.03 | gold quality |
| vena cava | UBERON:0004087 | 89.98 | gold quality |
| right coronary artery | UBERON:0001625 | 89.82 | gold quality |
| left coronary artery | UBERON:0001626 | 89.72 | gold quality |
| coronary artery | UBERON:0001621 | 89.50 | gold quality |
| omental fat pad | UBERON:0010414 | 89.42 | gold quality |
| peritoneum | UBERON:0002358 | 89.37 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 89.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.91 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.62 | gold quality |
| esophagus | UBERON:0001043 | 88.57 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.45 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.30 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.87 | gold quality |
| endocervix | UBERON:0000458 | 87.83 | gold quality |
| muscle of leg | UBERON:0001383 | 87.81 | gold quality |
| body of uterus | UBERON:0009853 | 87.78 | gold quality |
| myometrium | UBERON:0001296 | 87.51 | 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
miRNA regulators (miRDB)
91 targeting SPSB1, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
Literature-anchored findings (GeneRIF, showing 8)
- SSB1/2 is part of an ssDNA-binding heterotrimeric complex, SOSS which is involved in the maintenance of genome stability. (PMID:19683501)
- Findings define a novel pathway that contributes to breast cancer recurrence and provide evidence implicating SPSB proteins in cancer. (PMID:24786206)
- SPSB1 negatively regulates the TGF-beta signaling pathway through its interaction with both endogenous and overexpressed TbetaRII (and not TbetaRI) via its Spry domain. (PMID:26032413)
- EGF signaling upregulates an E3 ubiquitin (Ub) ligase adaptor, SPRY domain-containing SOCS box protein 1 (SPSB1), which recruits Elongin B/C-Cullin complexes to conjugate lysine 29-linked poly Ubiquitin chains onto hnRNP A1. (PMID:28084329)
- SPSB1 plays a key role in ovarian cancer cell survival and proliferation. The data also reveal a novel mechanism of regulating p21 stability by SPSB1. (PMID:30712944)
- Our results indicate that the paralogs Spsb1 and Spsb4, but not Spsb2 and Spsb3, can interact with and facilitate RevErbalpha ubiquitination and degradation and regulate circadian clock periodicity. (PMID:31607207)
- Cullin-5 Adaptor SPSB1 Controls NF-kappaB Activation Downstream of Multiple Signaling Pathways. (PMID:32038638)
- SUMOylation stabilizes hSSB1 and enhances the recruitment of NBS1 to DNA damage sites. (PMID:32576812)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spsb1 | ENSDARG00000056515 |
| mus_musculus | Spsb1 | ENSMUSG00000039911 |
| rattus_norvegicus | Spsb1 | ENSRNOG00000017212 |
| drosophila_melanogaster | gus | FBGN0026238 |
| caenorhabditis_elegans | WBGENE00021596 | |
| caenorhabditis_elegans | WBGENE00021597 |
Paralogs (4): SPSB2 (ENSG00000111671), SPSB3 (ENSG00000162032), FBXO45 (ENSG00000174013), SPSB4 (ENSG00000175093)
Protein
Protein identifiers
SPRY domain-containing SOCS box protein 1 — Q96BD6 (reviewed: Q96BD6)
All UniProt accessions (2): A2A276, Q96BD6
UniProt curated annotations — full annotation on UniProt →
Function. Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2. Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5.
Subunit / interactions. Component of the probable ECS(SPSB1) E3 ubiquitin-protein ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and SPSB1. Interacts with CUL5, RNF7, ELOB and ELOC. Directly interacts with MET tyrosine kinase domain in the presence and in the absence of HGF, however HGF treatment has a positive effect on this interaction. When phosphorylated, interacts with RASA1 without affecting its stability. Interacts (via B30.2/SPRY domain) with PAWR; this interaction is direct and occurs in association with the Elongin BC complex. Interacts with NOS2. Interacts with EPHB2.
Subcellular location. Cytoplasm. Cytosol.
Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes. Essential for its ability to link NOS2 and the ECS E3 ubiquitin ligase complex components ELOC and CUL5. The B30.2/SPRY domain is involved in MET and PAWR binding.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the SPSB family.
RefSeq proteins (1): NP_079382* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001496 | SOCS_box | Domain |
| IPR001870 | B30.2/SPRY | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050672 | FBXO45-Fsn/SPSB_families | Family |
Pfam: PF00622, PF07525
UniProt features (29 total): strand 15, helix 3, turn 3, domain 2, mutagenesis site 2, sequence conflict 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2JK9 | X-RAY DIFFRACTION | 1.79 |
| 3F2O | X-RAY DIFFRACTION | 2.05 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96BD6-F1 | 92.17 | 0.81 |
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 (1): 31
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 31 | loss of phosphorylation. |
| 260–263 | abolishes interaction with rnf7 and cul5. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 240 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, MODULE_522, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, FOSTER_TOLERANT_MACROPHAGE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, ATTCTTT_MIR186, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ACTTTAT_MIR1425P, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS
GO Biological Process (3): ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
662 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPSB1 | CISH | Q9NSE2 | 864 |
| SPSB1 | ELOB | Q15370 | 671 |
| SPSB1 | SPSB3 | Q6PJ21 | 494 |
| SPSB1 | FBXO32 | Q969P5 | 477 |
| SPSB1 | SOCS3 | O14543 | 465 |
| SPSB1 | CCNF | P41002 | 413 |
| SPSB1 | SOCS2 | O14508 | 403 |
| SPSB1 | RASA1 | P20936 | 389 |
| SPSB1 | CUL5 | Q93034 | 384 |
| SPSB1 | FBXO9 | Q9UK97 | 381 |
| SPSB1 | TPX2 | Q9ULW0 | 377 |
| SPSB1 | A0A087WY73 | A0A087WY73 | 376 |
| SPSB1 | ASB18 | Q6ZVZ8 | 376 |
| SPSB1 | CDC20 | Q12834 | 373 |
| SPSB1 | AURKA | O14965 | 368 |
IntAct
73 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VWA5A | SPSB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADPRH | SPSB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | CASP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | CCK | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYAA | SPSB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | HIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2K | SPSB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | HMOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | LAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | PAK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKN | SPSB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | PECAM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | SPSB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | VIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB1 | RNF11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARDBP | SPSB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (59): SPSB1 (Affinity Capture-Western), TGFBR2 (Affinity Capture-Western), Tgfbr2 (Affinity Capture-Western), SPSB1 (Affinity Capture-RNA), Ephb2 (Affinity Capture-Western), EPHB2 (Affinity Capture-Western), KRAS (Affinity Capture-Western), SPSB1 (Affinity Capture-Western), SPSB1 (Affinity Capture-Western), SPSB1 (Affinity Capture-Western), SPSB1 (Two-hybrid), SPSB1 (Two-hybrid), SPSB1 (Affinity Capture-MS), SPSB1 (Two-hybrid), SPSB1 (Two-hybrid)
ESM2 similar proteins: A1Z6E0, A2BHJ4, A8IU92, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, P00860, P0C2W1, P0CH38, P11926, P27117, P27119, P27120, P48455, P53041, P53042, Q0G819, Q16XV7, Q290L5, Q5BJ41, Q5E9X6, Q5VST6, Q5XH73, Q60676, Q68FK8, Q6AXU9, Q6AY17, Q6IR85, Q6NZ03, Q7M759, Q7QGL9
Diamond homologs: A1Z6E0, A8QGZ7, A8XT88, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, O88838, P0C2W1, P0CH38, Q16XV7, Q18223, Q28DT9, Q290L5, Q5E9X6, Q5M877, Q6NZ03, Q7QGL9, Q7ZXY1, Q8K3B1, Q8R5B6, Q96A44, Q96BD6, Q99619, Q9D5L7, Q9V6L9, Q3ZBA7, Q8N3Y1, Q3MHZ2, Q571F5, Q6PJ21, Q3SX45
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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 |
|---|---|---|---|
| Antigen processing: Ubiquitination & Proteasome degradation | 5 | 8.4× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ubiquitin-dependent protein catabolic process | 5 | 11.6× | 8e-03 |
| protein stabilization | 5 | 10.4× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1443 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:9367447:GCCGA:G | acceptor_gain | 1.0000 |
| 1:9293067:GCGCG:G | donor_gain | 0.9900 |
| 1:9293069:GCG:G | donor_gain | 0.9900 |
| 1:9293072:G:GG | donor_gain | 0.9900 |
| 1:9293072:GT:G | donor_loss | 0.9900 |
| 1:9293073:T:G | donor_loss | 0.9900 |
| 1:9355742:GGCA:G | acceptor_gain | 0.9900 |
| 1:9356582:GATC:G | donor_gain | 0.9900 |
| 1:9356586:G:GG | donor_gain | 0.9900 |
| 1:9367444:CCA:C | acceptor_loss | 0.9900 |
| 1:9367446:A:AG | acceptor_gain | 0.9900 |
| 1:9367446:A:T | acceptor_loss | 0.9900 |
| 1:9367446:AGCC:A | acceptor_gain | 0.9900 |
| 1:9367447:G:GA | acceptor_gain | 0.9900 |
| 1:9367447:GC:G | acceptor_gain | 0.9900 |
| 1:9367447:GCC:G | acceptor_gain | 0.9900 |
| 1:9367447:GCCG:G | acceptor_gain | 0.9900 |
| 1:9346443:A:AG | acceptor_gain | 0.9800 |
| 1:9346444:G:GG | acceptor_gain | 0.9800 |
| 1:9355739:TTAG:T | acceptor_loss | 0.9800 |
| 1:9355740:TAGGC:T | acceptor_loss | 0.9800 |
| 1:9355741:A:AG | acceptor_gain | 0.9800 |
| 1:9355742:G:GG | acceptor_gain | 0.9800 |
| 1:9367446:AGCCG:A | acceptor_gain | 0.9700 |
| 1:9293040:A:T | donor_gain | 0.9500 |
| 1:9318595:G:GG | donor_gain | 0.9500 |
| 1:9355742:GGC:G | acceptor_gain | 0.9500 |
| 1:9356584:TC:T | donor_gain | 0.9500 |
| 1:9366096:C:T | donor_gain | 0.9500 |
| 1:9293827:G:GT | donor_gain | 0.9400 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000106252 (1:9338034 C>T), RS1000192268 (1:9352006 C>T), RS1000222770 (1:9357392 G>A,T), RS1000281576 (1:9356700 C>T), RS1000295711 (1:9326080 A>G), RS1000328919 (1:9340067 G>A), RS1000459771 (1:9355261 G>A,C), RS1000481437 (1:9318747 C>T), RS1000526278 (1:9367484 C>T), RS1000538084 (1:9317279 A>G), RS1000545536 (1:9368932 C>G,T), RS1000561759 (1:9300421 G>A), RS1000603969 (1:9333567 G>A), RS1000665592 (1:9323153 T>A,C), RS1000669868 (1:9364256 C>T)
Disease associations
OMIM: gene MIM:611657 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
40 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001476_3 | Response to tocilizumab in rheumatoid arthritis | 5.000000e-08 |
| GCST001547_1 | Immune response to anthrax vaccine | 4.000000e-06 |
| GCST001713_14 | Dental caries | 5.000000e-07 |
| GCST004077_2 | Cognitive function | 1.000000e-06 |
| GCST004253_5 | Accelerated cognitive decline after conversion of mild cognitive impairment to Alzheimer’s disease (Alzhiemer’s diagnosis trajectory interaction) | 2.000000e-06 |
| GCST004606_171 | Eosinophil count | 1.000000e-10 |
| GCST004617_49 | Eosinophil percentage of granulocytes | 5.000000e-11 |
| GCST004623_143 | Neutrophil percentage of granulocytes | 1.000000e-11 |
| GCST004624_197 | Sum eosinophil basophil counts | 1.000000e-10 |
| GCST007096_27 | Pulse pressure | 4.000000e-10 |
| GCST007099_56 | Systolic blood pressure | 2.000000e-06 |
| GCST007267_167 | Systolic blood pressure | 2.000000e-12 |
| GCST007269_6 | Pulse pressure | 5.000000e-21 |
| GCST007798_3 | Asthma | 6.000000e-11 |
| GCST007800_68 | Asthma (childhood onset) | 4.000000e-18 |
| GCST008163_489 | Height | 1.000000e-06 |
| GCST008839_328 | Height | 9.000000e-12 |
| GCST009391_1611 | Metabolite levels | 8.000000e-06 |
| GCST012226_404 | Waist circumference adjusted for body mass index | 2.000000e-10 |
| GCST012227_1124 | Hip circumference adjusted for BMI | 3.000000e-09 |
| GCST90002382_53 | Eosinophil percentage of white cells | 6.000000e-17 |
| GCST90002382_54 | Eosinophil percentage of white cells | 2.000000e-22 |
| GCST90020024_1243 | A body shape index | 3.000000e-08 |
| GCST90020024_1245 | A body shape index | 1.000000e-08 |
| GCST90020024_1246 | A body shape index | 4.000000e-08 |
| GCST90020025_238 | Waist-to-hip ratio adjusted for BMI | 2.000000e-14 |
| GCST90020025_239 | Waist-to-hip ratio adjusted for BMI | 9.000000e-09 |
| GCST90020025_240 | Waist-to-hip ratio adjusted for BMI | 1.000000e-12 |
| GCST90020025_241 | Waist-to-hip ratio adjusted for BMI | 1.000000e-11 |
| GCST90020026_527 | Hip index | 7.000000e-09 |
EFO canonical traits (14, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004645 | response to vaccine |
| EFO:0004337 | intelligence |
| EFO:0007710 | cognitive decline measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0005090 | basophil count |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0010377 | phosphatidylcholine 34:3 measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation, affects methylation | 5 |
| Cyclosporine | decreases expression, increases expression | 4 |
| sodium arsenite | decreases stability, increases expression | 3 |
| Arsenic | affects expression, decreases methylation, increases expression | 3 |
| bisphenol A | affects expression, increases methylation | 2 |
| Acetaminophen | increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| chloroacetaldehyde | affects expression | 1 |
| hydroxyethyl methacrylate | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| beta-lapachone | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| cupric chloride | increases expression | 1 |
| arsenic disulfide | increases methylation | 1 |
| dimethylarsinous acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | affects cotreatment, increases methylation | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Temozolomide | 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.