SPSB3
gene geneOn this page
Also known as SSB-3
Summary
SPSB3 (splA/ryanodine receptor domain and SOCS box containing 3, HGNC:30629) is a protein-coding gene on chromosome 16p13.3, encoding SPRY domain-containing SOCS box protein 3 (Q6PJ21). Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as CGAS and SNAI1.
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including negative regulation of cGAS/STING signaling pathway; negative regulation of epithelial to mesenchymal transition; and protein K48-linked ubiquitination. Part of Cul5-RING ubiquitin ligase complex. Is active in nucleus.
Source: NCBI Gene 90864 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 2 total
- MANE Select transcript:
NM_080861
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30629 |
| Approved symbol | SPSB3 |
| Name | splA/ryanodine receptor domain and SOCS box containing 3 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SSB-3 |
| Ensembl gene | ENSG00000162032 |
| Ensembl biotype | protein_coding |
| OMIM | 611659 |
| Entrez | 90864 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 19 protein_coding, 9 retained_intron
ENST00000301717, ENST00000563668, ENST00000563705, ENST00000563741, ENST00000564070, ENST00000564709, ENST00000565550, ENST00000566339, ENST00000567868, ENST00000568416, ENST00000569380, ENST00000569769, ENST00000890579, ENST00000890580, ENST00000890581, ENST00000890582, ENST00000890583, ENST00000890584, ENST00000890585, ENST00000890586, ENST00000890587, ENST00000890588, ENST00000890589, ENST00000890590, ENST00000965197, ENST00000965198, ENST00000965199, ENST00000965200
RefSeq mRNA: 2 — MANE Select: NM_080861
NM_001324081, NM_080861
CCDS: CCDS32365
Canonical transcript exons
ENST00000566339 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002621258 | 1782502 | 1782571 |
| ENSE00002623095 | 1776712 | 1777443 |
| ENSE00003471659 | 1781358 | 1781495 |
| ENSE00003492934 | 1778134 | 1778321 |
| ENSE00003541994 | 1777747 | 1777872 |
| ENSE00003589455 | 1778435 | 1778612 |
| ENSE00003643619 | 1777946 | 1778048 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 99.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.1462 / max 84.1634, expressed in 1782 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155869 | 10.9929 | 1782 |
| 155870 | 0.3068 | 24 |
| 155868 | 0.1533 | 53 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.40 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 97.58 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.52 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.44 | gold quality |
| granulocyte | CL:0000094 | 97.41 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.41 | gold quality |
| upper leg skin | UBERON:0004262 | 97.22 | gold quality |
| cerebellum | UBERON:0002037 | 97.00 | gold quality |
| skin of hip | UBERON:0001554 | 96.89 | gold quality |
| skin of leg | UBERON:0001511 | 96.71 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.67 | gold quality |
| endothelial cell | CL:0000115 | 96.61 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.56 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.53 | gold quality |
| apex of heart | UBERON:0002098 | 96.36 | gold quality |
| left ovary | UBERON:0002119 | 96.29 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.24 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.24 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 96.10 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.03 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.99 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.94 | gold quality |
| right ovary | UBERON:0002118 | 95.92 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.90 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.87 | gold quality |
| body of pancreas | UBERON:0001150 | 95.84 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.69 | gold quality |
| body of stomach | UBERON:0001161 | 95.63 | gold quality |
| zone of skin | UBERON:0000014 | 95.59 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.57 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.34 |
| E-MTAB-4850 | no | 585.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting SPSB3, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-6842-3P | 98.07 | 66.33 | 1325 |
| HSA-MIR-1910-5P | 97.42 | 66.36 | 844 |
| HSA-MIR-4475 | 97.36 | 66.95 | 761 |
| HSA-MIR-4690-3P | 97.02 | 64.72 | 981 |
| HSA-MIR-5685 | 97.02 | 64.34 | 1004 |
| HSA-MIR-1258 | 96.08 | 67.74 | 700 |
| HSA-MIR-3943 | 95.87 | 64.57 | 523 |
Literature-anchored findings (GeneRIF, showing 2)
- Low SPSB3 expression is associated with lymph node metastasis in Ovarian and esophageal squamous cell carcinoma. (PMID:29059170)
- The CRL5-SPSB3 ubiquitin ligase targets nuclear cGAS for degradation. (PMID:38418882)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spsb3a | ENSDARG00000077737 |
| mus_musculus | Spsb3 | ENSMUSG00000024160 |
| rattus_norvegicus | Spsb3 | ENSRNOG00000015300 |
| drosophila_melanogaster | CG10516 | FBGN0036549 |
Paralogs (4): SPSB2 (ENSG00000111671), SPSB1 (ENSG00000171621), FBXO45 (ENSG00000174013), SPSB4 (ENSG00000175093)
Protein
Protein identifiers
SPRY domain-containing SOCS box protein 3 — Q6PJ21 (reviewed: Q6PJ21)
All UniProt accessions (2): Q6PJ21, H3BP12
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as CGAS and SNAI1. The ECS(SPSB3) complex catalyzes ‘Lys-48’-linked ubiquitination of nuclear CGAS in cycling cells, leading to its degradation. Recognizes and binds nucleosome-bound CGAS: ubiquitination and degradation of nuclear CGAS during G1 and G2 phases is required to promote low intranuclear CGAS abundance before the next mitotic cycle. The ECS(SPSB3) complex also mediates ubiquitination and degradation of phosphorylated SNAI1.
Subunit / interactions. Substrate-recognition component of the ECS(SPSB3) complex, composed of SPSB3, CUL5, ELOB, ELOC and RNF7/RBX2. Interacts with MET.
Subcellular location. Nucleus.
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.
Similarity. Belongs to the SPSB family.
RefSeq proteins (2): NP_001311010, NP_543137* (*=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 |
| IPR035754 | SPRY_SPSB3 | Domain |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050672 | FBXO45-Fsn/SPSB_families | Family |
Pfam: PF00622
UniProt features (34 total): strand 15, turn 5, sequence conflict 4, domain 2, region of interest 2, helix 2, mutagenesis site 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8OL1 | ELECTRON MICROSCOPY | 3.5 |
| 8OKX | ELECTRON MICROSCOPY | 3.51 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PJ21-F1 | 77.01 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 160–162 | abolished interaction with cgas; when associated with 259-a–a-262. |
| 259–262 | abolished interaction with cgas; when associated with 160-a–a-162. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 170 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_MESENCHYMAL_CELL_DIFFERENTIATION, BLALOCK_ALZHEIMERS_DISEASE_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, STONER_ESOPHAGEAL_CARCINOGENESIS_UP
GO Biological Process (8): negative regulation of epithelial to mesenchymal transition (GO:0010719), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K48-linked ubiquitination (GO:0070936), negative regulation of cGAS/STING signaling pathway (GO:0160049), epithelial to mesenchymal transition (GO:0001837), ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567), cGAS/STING signaling pathway (GO:0140896)
GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), SCF ubiquitin ligase complex (GO:0019005), Cul5-RING ubiquitin ligase complex (GO:0031466)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cullin-RING ubiquitin ligase complex | 2 |
| epithelial to mesenchymal transition | 1 |
| regulation of epithelial to mesenchymal transition | 1 |
| negative regulation of cell differentiation | 1 |
| negative regulation of multicellular organismal process | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| protein polyubiquitination | 1 |
| negative regulation of cytoplasmic pattern recognition receptor signaling pathway | 1 |
| cGAS/STING signaling pathway | 1 |
| mesenchymal cell differentiation | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| cytoplasmic pattern recognition receptor signaling pathway | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
720 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPSB3 | CISH | Q9NSE2 | 763 |
| SPSB3 | SPSB1 | Q96BD6 | 494 |
| SPSB3 | FBXL14 | Q8N1E6 | 490 |
| SPSB3 | SPSB2 | Q99619 | 478 |
| SPSB3 | KLHL38 | Q2WGJ6 | 450 |
| SPSB3 | ANKRD29 | Q8N6D5 | 444 |
| SPSB3 | TRIM21 | P19474 | 422 |
| SPSB3 | SPSB4 | Q96A44 | 422 |
| SPSB3 | OR4A5 | Q8NH83 | 419 |
| SPSB3 | BTNL3 | Q6UXE8 | 418 |
| SPSB3 | BTNL8 | Q6UX41 | 416 |
| SPSB3 | BTN2A1 | P78408 | 411 |
| SPSB3 | FBXO11 | Q86XK2 | 410 |
| SPSB3 | FBXL5 | Q9UKA1 | 398 |
| SPSB3 | OR4C12 | Q96R67 | 396 |
IntAct
67 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PGBD1 | ZNF24 | psi-mi:“MI:0914”(association) | 0.900 |
| CUL5 | SOCS2 | psi-mi:“MI:0914”(association) | 0.880 |
| CDK13 | CCNK | psi-mi:“MI:0914”(association) | 0.830 |
| SMYD1 | ADSS2 | psi-mi:“MI:0914”(association) | 0.780 |
| SPSB3 | ENKD1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ENKD1 | SPSB3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CUL5 | SOCS7 | psi-mi:“MI:0914”(association) | 0.640 |
| NUMB | SLC1A1 | psi-mi:“MI:0914”(association) | 0.640 |
| GNPTG | GNPTAB | psi-mi:“MI:0914”(association) | 0.620 |
| SPSB3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SPSB3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SPSB3 | NUMBL | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPSB3 | ZNF396 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRN | SPSB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPGR | NPHP1 | psi-mi:“MI:0914”(association) | 0.560 |
| GPN3 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| POLR1C | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| RNF7 | SOCS7 | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AB1 | SPSB3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAPK8IP2 | SPSB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CSNK2B | SPSB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SPSB3 | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL5 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (57): SPSB3 (Two-hybrid), SPSB3 (Two-hybrid), SPSB3 (Affinity Capture-RNA), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Two-hybrid), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS), SPSB3 (Affinity Capture-MS)
ESM2 similar proteins: A1L0Y2, A2ALK8, A2ARP1, A2Z8S0, A4IFG2, A8XT88, B1AVZ0, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, M9MRI4, O35242, O76050, P0C644, P26045, Q18223, Q29B63, Q29RQ5, Q3MHZ2, Q3UJK4, Q571F5, Q5M870, Q5NCX5, Q5PQR3, Q5R881, Q6PFW1, Q6PJ21, Q75G68, Q8BVR6, Q8C726, Q8CJC5, Q8R516, Q91YL3, Q91ZY8
Diamond homologs: A1Z6E0, A8QGZ7, A8XT88, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, O88838, P0C2W1, P0CH38, Q16XV7, Q18223, Q290L5, Q3MHZ2, Q571F5, Q5E9X6, Q5M877, Q6NZ03, Q6PJ21, Q7QGL9, Q7ZXY1, Q8K3B1, Q8R5B6, Q96A44, Q96BD6, Q99619, Q9D5L7, Q9V6L9, Q28DT9, Q5M9B1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 56 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 |
|---|---|---|---|
| Neutrophil degranulation | 9 | 5.5× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cell migration | 7 | 7.9× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
2 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2635 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1777441:CAC:C | acceptor_gain | 1.0000 |
| 16:1777442:ACCT:A | acceptor_loss | 1.0000 |
| 16:1777444:CTGGA:C | acceptor_loss | 1.0000 |
| 16:1777741:CCTCA:C | donor_loss | 1.0000 |
| 16:1777742:CTCA:C | donor_loss | 1.0000 |
| 16:1777743:TCAC:T | donor_loss | 1.0000 |
| 16:1777745:ACCT:A | donor_loss | 1.0000 |
| 16:1777746:C:T | donor_loss | 1.0000 |
| 16:1777756:T:TA | donor_gain | 1.0000 |
| 16:1777757:C:A | donor_gain | 1.0000 |
| 16:1777873:C:CC | acceptor_gain | 1.0000 |
| 16:1778129:CTTA:C | donor_loss | 1.0000 |
| 16:1778130:TTACC:T | donor_loss | 1.0000 |
| 16:1778131:TAC:T | donor_loss | 1.0000 |
| 16:1778132:A:AC | donor_gain | 1.0000 |
| 16:1778132:AC:A | donor_gain | 1.0000 |
| 16:1778133:C:CA | donor_gain | 1.0000 |
| 16:1778133:CC:C | donor_gain | 1.0000 |
| 16:1778133:CCA:C | donor_gain | 1.0000 |
| 16:1778133:CCAT:C | donor_gain | 1.0000 |
| 16:1778133:CCATG:C | donor_gain | 1.0000 |
| 16:1778319:AATCT:A | acceptor_loss | 1.0000 |
| 16:1778320:ATCT:A | acceptor_loss | 1.0000 |
| 16:1778321:TCT:T | acceptor_loss | 1.0000 |
| 16:1778322:C:CA | acceptor_loss | 1.0000 |
| 16:1778322:C:CC | acceptor_gain | 1.0000 |
| 16:1778323:T:G | acceptor_loss | 1.0000 |
| 16:1778428:CG:C | donor_gain | 1.0000 |
| 16:1778433:A:AC | donor_gain | 1.0000 |
| 16:1778434:C:CC | donor_gain | 1.0000 |
AlphaMissense
2332 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:1777995:G:C | F182L | 1.000 |
| 16:1777995:G:T | F182L | 1.000 |
| 16:1777997:A:G | F182L | 1.000 |
| 16:1778144:C:T | G161D | 1.000 |
| 16:1778175:A:G | W151R | 1.000 |
| 16:1778175:A:T | W151R | 1.000 |
| 16:1778307:A:G | W107R | 1.000 |
| 16:1778307:A:T | W107R | 1.000 |
| 16:1777376:G:C | S263R | 0.999 |
| 16:1777376:G:T | S263R | 0.999 |
| 16:1777378:T:G | S263R | 0.999 |
| 16:1777383:G:T | A261D | 0.999 |
| 16:1777392:G:A | S258F | 0.999 |
| 16:1777392:G:T | S258Y | 0.999 |
| 16:1777393:A:G | S258P | 0.999 |
| 16:1777394:G:C | C257W | 0.999 |
| 16:1777396:A:G | C257R | 0.999 |
| 16:1777776:A:G | L231P | 0.999 |
| 16:1777797:A:G | L224P | 0.999 |
| 16:1777809:A:T | I220N | 0.999 |
| 16:1777826:G:C | F214L | 0.999 |
| 16:1777826:G:T | F214L | 0.999 |
| 16:1777828:A:G | F214L | 0.999 |
| 16:1777872:C:A | G199V | 0.999 |
| 16:1777872:C:T | G199D | 0.999 |
| 16:1777952:A:C | Y197D | 0.999 |
| 16:1777954:G:A | S196F | 0.999 |
| 16:1777955:A:G | S196P | 0.999 |
| 16:1777957:A:G | L195P | 0.999 |
| 16:1777960:C:T | G194D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000513546 (16:1776370 CAG>C), RS1000560342 (16:1778867 A>G), RS1000967235 (16:1779124 C>T), RS1001138988 (16:1784052 C>A,T), RS1001221004 (16:1780501 G>A), RS1001626436 (16:1780661 G>A), RS1001868867 (16:1783851 G>A,T), RS1002250848 (16:1783589 A>C), RS1002479993 (16:1783220 C>G,T), RS1003003991 (16:1781528 G>T), RS1003051504 (16:1781757 C>T), RS1003647232 (16:1782601 G>A), RS1003856156 (16:1779708 G>A,C), RS1004116517 (16:1779572 G>A,C), RS1004344436 (16:1776594 C>T)
Disease associations
OMIM: gene MIM:611659 | 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 |
|---|---|---|
| GCST010320_29 | PR interval | 3.000000e-09 |
| GCST010321_49 | PR interval | 1.000000e-09 |
| GCST90000025_76 | Appendicular lean mass | 2.000000e-23 |
| GCST90000026_8 | Appendicular lean mass | 5.000000e-14 |
| GCST90000027_33 | Appendicular lean mass | 4.000000e-11 |
| GCST90002400_167 | Plateletcrit | 2.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004462 | PR interval |
| EFO:0004980 | appendicular lean mass |
| EFO:0007985 | platelet crit |
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 |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Tunicamycin | increases expression | 2 |
| Valproic Acid | increases methylation, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Resveratrol | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | increases abundance, increases oxidation, affects cotreatment | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Diuron | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases 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.