SPATA2
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Also known as KIAA0757PD1tamoPPP1R145
Summary
SPATA2 (spermatogenesis associated 2, HGNC:14681) is a protein-coding gene on chromosome 20q13.13, encoding Spermatogenesis-associated protein 2 (Q9UM82). Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-induced necroptosis.
Enables signaling receptor complex adaptor activity and ubiquitin-specific protease binding activity. Involved in several processes, including protein deubiquitination; regulation of necroptotic process; and regulation of tumor necrosis factor-mediated signaling pathway. Located in cytoplasm; fibrillar center; and nucleoplasm.
Source: NCBI Gene 9825 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 93 total
- MANE Select transcript:
NM_006038
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14681 |
| Approved symbol | SPATA2 |
| Name | spermatogenesis associated 2 |
| Location | 20q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0757, PD1, tamo, PPP1R145 |
| Ensembl gene | ENSG00000158480 |
| Ensembl biotype | protein_coding |
| OMIM | 607662 |
| Entrez | 9825 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000289431, ENST00000422556, ENST00000857509, ENST00000857510, ENST00000857511, ENST00000939097, ENST00000939098, ENST00000949397
RefSeq mRNA: 2 — MANE Select: NM_006038
NM_001135773, NM_006038
CCDS: CCDS13422
Canonical transcript exons
ENST00000289431 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001039165 | 49915380 | 49915529 |
| ENSE00001455895 | 49908155 | 49908592 |
| ENSE00001886022 | 49903391 | 49906845 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 96.63.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.0694 / max 182.7254, expressed in 1801 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187803 | 9.2788 | 1762 |
| 187804 | 6.0691 | 1728 |
| 187805 | 0.4480 | 199 |
| 187802 | 0.1237 | 47 |
| 187801 | 0.1034 | 33 |
| 187800 | 0.0464 | 25 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.63 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.29 | gold quality |
| endothelial cell | CL:0000115 | 95.09 | gold quality |
| oocyte | CL:0000023 | 93.66 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.67 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.67 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.04 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.94 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.58 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 86.53 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.68 | gold quality |
| frontal cortex | UBERON:0001870 | 85.33 | gold quality |
| caudate nucleus | UBERON:0001873 | 85.33 | gold quality |
| neocortex | UBERON:0001950 | 85.02 | gold quality |
| inferior olivary complex | UBERON:0002127 | 84.60 | gold quality |
| putamen | UBERON:0001874 | 84.58 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.37 | gold quality |
| spinal cord | UBERON:0002240 | 84.30 | gold quality |
| cingulate cortex | UBERON:0003027 | 84.28 | gold quality |
| nucleus accumbens | UBERON:0001882 | 84.14 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.13 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 83.96 | gold quality |
| telencephalon | UBERON:0001893 | 83.80 | gold quality |
| occipital lobe | UBERON:0002021 | 83.80 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.77 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 83.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 83.08 | gold quality |
| entorhinal cortex | UBERON:0002728 | 82.97 | gold quality |
| forebrain | UBERON:0001890 | 82.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.96 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1
miRNA regulators (miRDB)
94 targeting SPATA2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
Literature-anchored findings (GeneRIF, showing 10)
- cloning and base sequence of the promoter region (PMID:12531478)
- disappearance of TLD epitope reactivity from an otherwise stable EBV-specific response reflects selective loss of cognate antigen restimulation, not IL-7-dependent signals, and is immediately preceded by PD-1 upregulation to unprecedented levels. (PMID:19605492)
- Tumor-infiltrating NY-ESO-1-specific CD8+ T cells are negatively regulated by LAG-3 and PD-1 in human ovarian cancer. (PMID:20385810)
- PD-L1 is highly expressed in tumours rather than tumour-free lymph nodes, which is closely correlated with the impairment of IFN-gamma production of tumour-infiltrating T-cells. (PMID:25093496)
- The aim of this study was to investigate whether the HCP5, TNIP1, TNFAIP3, SPATA2 and COG6 genes were genetic risk factors for psoriasis in Chinese population. (PMID:25264125)
- The predicted PUB domain in the N-terminus of SPATA2 interacts with the USP domain of CYLD and SPATA2 is required for recruitment of CYLD to the TNF-alpha receptor-associated signaling complexes. (PMID:27307491)
- this study identifies SPATA2 as an important factor in the TNF signaling pathway with a substantial role for the effects mediated by the cytokine. (PMID:27458237)
- SPATA2 has been described as a previously unrecognized factor in the linear ubiquitin chain assembly complex-dependent signaling pathways that serves as an adaptor between HOIP and CYLD, thereby enabling recruitment of CYLD to signaling complexes. (PMID:27545878)
- The data reveal SPATA2 as a high-affinity binding partner of CYLD and HOIP, and a regulatory component of linear ubiquitin chain assembly complex-mediated NF-kappaB signaling. (PMID:27591049)
- A role of SPATA2 in tumorigenesis. (PMID:30697874)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spata2 | ENSDARG00000063250 |
| mus_musculus | Spata2 | ENSMUSG00000047030 |
| rattus_norvegicus | Spata2 | ENSRNOG00000009207 |
| drosophila_melanogaster | tamo | FBGN0041582 |
Paralogs (1): SPATA2L (ENSG00000158792)
Protein
Protein identifiers
Spermatogenesis-associated protein 2 — Q9UM82 (reviewed: Q9UM82)
All UniProt accessions (1): Q9UM82
UniProt curated annotations — full annotation on UniProt →
Function. Bridging factor that mediates the recruitment of CYLD to the LUBAC complex, thereby regulating TNF-induced necroptosis. Acts as a direct binding intermediate that bridges RNF31/HOIP, the catalytic subunit of the LUBAC complex, and the deubiquitinase (CYLD), thereby recruiting CYLD to the TNF-R1 signaling complex (TNF-RSC). Required to activate the ‘Met-1’- (linear) and ‘Lys-63’-linked deubiquitinase activities of CYLD. Controls the kinase activity of RIPK1 and TNF-induced necroptosis by promoting ‘Met-1’-linked deubiquitination of RIPK1 by CYLD.
Subunit / interactions. Interacts (via the PIM motif) with RNF31/HOIP (via the PUB domain); the interaction is direct. Interacts (via the PUB domain) with CYLD; the interaction is direct.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Present at high level in Sertoli cells, but not detected in spermatogenic cells (at protein level). Low expression in spleen, thymus and prostate.
Similarity. Belongs to the SPATA2 family.
RefSeq proteins (2): NP_001129245, NP_006029* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR048839 | SPATA2_PUB-like | Domain |
Pfam: PF21388
UniProt features (32 total): helix 12, mutagenesis site 6, strand 4, region of interest 2, turn 2, chain 1, domain 1, sequence conflict 1, short sequence motif 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5LJM | X-RAY DIFFRACTION | 1.45 |
| 5LJN | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UM82-F1 | 68.71 | 0.32 |
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): 253
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 114 | reduced interaction with cyld. |
| 115 | reduced interaction with cyld. |
| 338 | strongly reduced interaction with rnf31/hoip. |
| 94 | weak or no effect on interaction with cyld. |
| 98 | weak or no effect on interaction with cyld. |
| 108 | abolished interaction with cyld. |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-5357786 | TNFR1-induced proapoptotic signaling |
| R-HSA-5357905 | Regulation of TNFR1 signaling |
| R-HSA-5357956 | TNFR1-induced NF-kappa-B signaling pathway |
| R-HSA-162582 | Signal Transduction |
| R-HSA-73887 | Death Receptor Signaling |
| R-HSA-75893 | TNF signaling |
MSigDB gene sets: 184 (showing top):
GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_MALE_GAMETE_GENERATION, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, MORF_RAD51L3, MODULE_205, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOBP_SEX_DIFFERENTIATION, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION
GO Biological Process (9): spermatogenesis (GO:0007283), regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803), regulation of inflammatory response (GO:0050727), regulation of necroptotic process (GO:0060544), necroptotic process (GO:0070266), protein K63-linked deubiquitination (GO:0070536), seminiferous tubule development (GO:0072520), protein linear deubiquitination (GO:1990108), programmed cell death (GO:0012501)
GO Molecular Function (4): signaling receptor complex adaptor activity (GO:0030159), protein-containing complex binding (GO:0044877), ubiquitin-specific protease binding (GO:1990381), protein binding (GO:0005515)
GO Cellular Component (5): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| TNF signaling | 3 |
| Signal Transduction | 1 |
| Death Receptor Signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| protein deubiquitination | 2 |
| binding | 2 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| regulation of cytokine-mediated signaling pathway | 1 |
| tumor necrosis factor-mediated signaling pathway | 1 |
| inflammatory response | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| regulation of programmed necrotic cell death | 1 |
| necroptotic process | 1 |
| programmed necrotic cell death | 1 |
| male gonad development | 1 |
| tube development | 1 |
| reproductive structure development | 1 |
| signal transduction | 1 |
| cell death | 1 |
| signaling receptor binding | 1 |
| signaling adaptor activity | 1 |
| protease binding | 1 |
| nucleolus | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
420 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPATA2 | CYLD | Q9NQC7 | 880 |
| SPATA2 | RNF31 | Q96EP0 | 778 |
| SPATA2 | RBCK1 | Q9BYM8 | 619 |
| SPATA2 | OTULIN | Q96BN8 | 609 |
| SPATA2 | SHARPIN | Q9H0F6 | 571 |
| SPATA2 | TRADD | Q15628 | 556 |
| SPATA2 | TNF | P01375 | 487 |
| SPATA2 | RNF114 | Q9Y508 | 430 |
| SPATA2 | ZUP1 | Q96AP4 | 412 |
| SPATA2 | NGLY1 | Q96IV0 | 371 |
| SPATA2 | RIPK1 | Q13546 | 368 |
| SPATA2 | TNFRSF1A | P19438 | 359 |
| SPATA2 | ATP6V1G2 | O95670 | 357 |
| SPATA2 | PHF20 | Q9BVI0 | 355 |
| SPATA2 | BBOX1 | O75936 | 324 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TRIM27 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| GOLGA2 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SPATA2 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SPATA2 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA2 | MAD1L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LZTS2 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA2 | ZNF835 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATP6V1H | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFC3 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAT5 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC102B | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C2CD6 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNIP1 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBC1D22B | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA2 | ANKRD11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LENG1 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFHC1 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPANK1 | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYLD | SPATA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA2 | GFAP | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (145): SPATA2 (Two-hybrid), SPATA2 (Two-hybrid), SPATA2 (Two-hybrid), LZTS2 (Two-hybrid), SPATA2 (Affinity Capture-MS), SPATA2 (Two-hybrid), SPATA2 (Two-hybrid), CEP72 (Two-hybrid), SPATA2 (Proximity Label-MS), SPATA2 (Proximity Label-MS), SPATA2 (Proximity Label-MS), SPATA2 (Proximity Label-MS), SPATA2 (Proximity Label-MS), SPATA2 (Proximity Label-MS), SPATA2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8M9QN10, A0FGR0, A1L3I3, A7LKB2, B1AZP2, E9Q9W7, F1QCY8, O08576, O43147, O54834, P0C6P5, P51111, P59729, P97433, P97839, Q17QK1, Q2NKQ1, Q2TAL5, Q2THW7, Q2THW9, Q2THX1, Q59EK9, Q5R565, Q5R838, Q5RD34, Q5U3W3, Q5U464, Q5VUB5, Q5Y5T5, Q66HP6, Q6BCB4, Q6INH1, Q6NXJ0, Q75N33, Q75NY9, Q80Y56, Q8BPQ7, Q8CI12, Q8K004, Q8VDZ4
Diamond homologs: F1QCY8, Q0IIA6, Q66HP6, Q8BNN1, Q8IUW3, Q8K004, Q9UM82, Q9W1A4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 59 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 |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 7 | 27.1× | 9e-07 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 7 | 27.1× | 9e-07 |
| AURKA Activation by TPX2 | 7 | 26.0× | 9e-07 |
| Recruitment of mitotic centrosome proteins and complexes | 7 | 23.2× | 2e-06 |
| Regulation of PLK1 Activity at G2/M Transition | 7 | 21.7× | 2e-06 |
| Recruitment of NuMA to mitotic centrosomes | 7 | 19.9× | 3e-06 |
| Anchoring of the basal body to the plasma membrane | 7 | 19.3× | 3e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
558 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:49915375:CTCA:C | donor_loss | 1.0000 |
| 20:49915376:TCA:T | donor_loss | 1.0000 |
| 20:49915377:CA:C | donor_loss | 1.0000 |
| 20:49915378:AC:A | donor_gain | 1.0000 |
| 20:49915379:C:CA | donor_loss | 1.0000 |
| 20:49915379:CC:C | donor_gain | 1.0000 |
| 20:49906846:C:CC | acceptor_gain | 0.9900 |
| 20:49908149:CCTCA:C | donor_loss | 0.9900 |
| 20:49908150:CTCAC:C | donor_loss | 0.9900 |
| 20:49908151:TCAC:T | donor_loss | 0.9900 |
| 20:49908152:CA:C | donor_loss | 0.9900 |
| 20:49908153:A:C | donor_loss | 0.9900 |
| 20:49908154:C:CG | donor_loss | 0.9900 |
| 20:49908591:CT:C | acceptor_gain | 0.9900 |
| 20:49915373:CACT:C | donor_loss | 0.9900 |
| 20:49915374:ACTC:A | donor_loss | 0.9900 |
| 20:49915378:A:AC | donor_gain | 0.9900 |
| 20:49915379:C:CC | donor_gain | 0.9900 |
| 20:49906841:TAGGT:T | acceptor_gain | 0.9800 |
| 20:49906860:G:GC | acceptor_gain | 0.9800 |
| 20:49908153:A:AC | donor_gain | 0.9800 |
| 20:49908154:C:CC | donor_gain | 0.9800 |
| 20:49908588:GTGCT:G | acceptor_gain | 0.9800 |
| 20:49908589:TGCT:T | acceptor_gain | 0.9800 |
| 20:49908593:C:CC | acceptor_gain | 0.9800 |
| 20:49906814:T:C | acceptor_gain | 0.9700 |
| 20:49906819:A:C | acceptor_gain | 0.9700 |
| 20:49906843:GGT:G | acceptor_gain | 0.9700 |
| 20:49906843:GGTCT:G | acceptor_loss | 0.9700 |
| 20:49906845:TCTA:T | acceptor_loss | 0.9700 |
AlphaMissense
3373 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:49905768:A:G | C472R | 0.998 |
| 20:49905804:A:G | C460R | 0.998 |
| 20:49905735:A:G | C483R | 0.997 |
| 20:49905803:C:G | C460S | 0.997 |
| 20:49905804:A:T | C460S | 0.997 |
| 20:49908181:A:G | W104R | 0.997 |
| 20:49908181:A:T | W104R | 0.997 |
| 20:49908195:A:G | L99P | 0.997 |
| 20:49905733:G:C | C483W | 0.996 |
| 20:49905744:A:G | C480R | 0.996 |
| 20:49905759:A:G | C475R | 0.996 |
| 20:49905766:G:C | C472W | 0.996 |
| 20:49905795:A:G | C463R | 0.996 |
| 20:49906592:C:G | R197P | 0.996 |
| 20:49906593:G:T | R197S | 0.996 |
| 20:49906676:G:T | A169D | 0.996 |
| 20:49906685:A:G | L166P | 0.996 |
| 20:49906763:T:G | Y140S | 0.996 |
| 20:49906764:A:C | Y140D | 0.996 |
| 20:49908179:C:A | W104C | 0.996 |
| 20:49908179:C:G | W104C | 0.996 |
| 20:49908308:G:C | F61L | 0.996 |
| 20:49908308:G:T | F61L | 0.996 |
| 20:49908310:A:G | F61L | 0.996 |
| 20:49905794:C:G | C463S | 0.995 |
| 20:49905795:A:T | C463S | 0.995 |
| 20:49905802:A:C | C460W | 0.995 |
| 20:49906677:C:G | A169P | 0.995 |
| 20:49906817:A:T | V122D | 0.995 |
| 20:49908159:A:T | I111N | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000364560 (20:49904838 ATATT>A), RS1000421471 (20:49904720 G>A), RS1000511776 (20:49914707 C>T), RS1000614847 (20:49915538 C>A,T), RS1000972951 (20:49905895 C>G,T), RS1001320337 (20:49905707 C>A,G), RS1001500367 (20:49911905 T>C), RS1001521148 (20:49917504 T>C), RS1001886139 (20:49914445 C>A), RS1001990008 (20:49903267 G>A), RS1001991168 (20:49908585 G>A,C,T), RS1002248841 (20:49908162 C>T), RS1002402397 (20:49914045 A>C), RS1002450371 (20:49913294 T>C), RS1002499889 (20:49910421 T>C)
Disease associations
OMIM: gene MIM:607662 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000165_1 | Psoriasis | 1.000000e-08 |
| GCST000834_7 | Psoriasis | 2.000000e-07 |
| GCST002738_8 | Psoriasis | 3.000000e-09 |
| GCST003876_14 | Gut microbiota (beta diversity) | 5.000000e-08 |
| GCST005194_202 | Coronary artery disease | 1.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression | 3 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | increases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| cypermethrin | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| monomethylarsonous acid | increases expression | 1 |
| dimethylarsinous acid | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gold | affects binding, decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Polyethyleneimine | affects binding, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tamoxifen | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): psoriasis