SPICE1
gene geneOn this page
Also known as SPICE
Summary
SPICE1 (spindle and centriole associated protein 1, HGNC:25083) is a protein-coding gene on chromosome 3q13.2, encoding Spindle and centriole-associated protein 1 (Q8N0Z3). Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis. It is a selective cancer dependency (DepMap: 13.7% of cell lines).
Involved in metaphase chromosome alignment; mitotic spindle assembly; and regulation of centriole replication. Located in intracellular membrane-bounded organelle; microtubule cytoskeleton; and plasma membrane.
Source: NCBI Gene 152185 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 144 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 13.7% of screened cell lines
- MANE Select transcript:
NM_144718
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25083 |
| Approved symbol | SPICE1 |
| Name | spindle and centriole associated protein 1 |
| Location | 3q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SPICE |
| Ensembl gene | ENSG00000163611 |
| Ensembl biotype | protein_coding |
| OMIM | 613447 |
| Entrez | 152185 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 20 protein_coding, 2 retained_intron
ENST00000295872, ENST00000460832, ENST00000467618, ENST00000480527, ENST00000495812, ENST00000496105, ENST00000496859, ENST00000854918, ENST00000854919, ENST00000854920, ENST00000854921, ENST00000854922, ENST00000854923, ENST00000854924, ENST00000854925, ENST00000854926, ENST00000854927, ENST00000930826, ENST00000930827, ENST00000930828, ENST00000930829, ENST00000968436
RefSeq mRNA: 4 — MANE Select: NM_144718
NM_001331078, NM_001331079, NM_001387939, NM_144718
CCDS: CCDS2973
Canonical transcript exons
ENST00000295872 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001156013 | 113446589 | 113446676 |
| ENSE00001156020 | 113448038 | 113448140 |
| ENSE00001175104 | 113450336 | 113450516 |
| ENSE00001199378 | 113494049 | 113494142 |
| ENSE00001199381 | 113499439 | 113499582 |
| ENSE00001277405 | 113514897 | 113515156 |
| ENSE00001277415 | 113442718 | 113445360 |
| ENSE00003489197 | 113469099 | 113469238 |
| ENSE00003511105 | 113488945 | 113489063 |
| ENSE00003514332 | 113468762 | 113468899 |
| ENSE00003515593 | 113457136 | 113457357 |
| ENSE00003591537 | 113503180 | 113503227 |
| ENSE00003623440 | 113506507 | 113506605 |
| ENSE00003627107 | 113453466 | 113453950 |
| ENSE00003628863 | 113460617 | 113460764 |
| ENSE00003640608 | 113465653 | 113465784 |
| ENSE00003647241 | 113493206 | 113493312 |
| ENSE00003690638 | 113468139 | 113468404 |
Expression profiles
Bgee: expression breadth ubiquitous, 230 present calls, max score 90.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.4811 / max 266.7659, expressed in 1704 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43846 | 7.8939 | 1636 |
| 43845 | 3.5872 | 1155 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 90.44 | gold quality |
| secondary oocyte | CL:0000655 | 90.29 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.84 | gold quality |
| ventricular zone | UBERON:0003053 | 87.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.88 | gold quality |
| sural nerve | UBERON:0015488 | 83.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.65 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.54 | gold quality |
| ganglionic eminence | UBERON:0004023 | 81.99 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.09 | gold quality |
| gall bladder | UBERON:0002110 | 80.04 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.13 | gold quality |
| tendon | UBERON:0000043 | 78.94 | gold quality |
| rectum | UBERON:0001052 | 78.76 | gold quality |
| right uterine tube | UBERON:0001302 | 77.97 | gold quality |
| bronchial epithelial cell | CL:0002328 | 77.87 | gold quality |
| vagina | UBERON:0000996 | 77.36 | gold quality |
| ovary | UBERON:0000992 | 76.60 | gold quality |
| endometrium | UBERON:0001295 | 76.49 | gold quality |
| tonsil | UBERON:0002372 | 76.40 | gold quality |
| minor salivary gland | UBERON:0001830 | 76.23 | gold quality |
| pancreas | UBERON:0001264 | 76.22 | gold quality |
| left ovary | UBERON:0002119 | 76.02 | gold quality |
| ectocervix | UBERON:0012249 | 75.92 | gold quality |
| endocervix | UBERON:0000458 | 75.59 | gold quality |
| body of uterus | UBERON:0009853 | 75.41 | gold quality |
| body of pancreas | UBERON:0001150 | 75.27 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 75.15 | gold quality |
| bone marrow cell | CL:0002092 | 75.11 | gold quality |
| pituitary gland | UBERON:0000007 | 75.00 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.67 |
| E-MTAB-7249 | no | 204.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
129 targeting SPICE1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| 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-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 13.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- SPICE is required for centriole duplication and mitotic chromosome congression. (PMID:20736305)
- CEP120 associates with SPICE1 and CPAP, and depletion of any of these proteins results in short procentrioles. Furthermore, CEP120 or CPAP overexpression results in excessive centriole elongation, a process dependent on CEP120, SPICE1, and CPAP. (PMID:23810536)
- temporal and spatial Aurora kinase-mediated regulation of SPICE1 is important for correct chromosome segregation. (PMID:30485161)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spice1 | ENSDARG00000004647 |
| mus_musculus | Spice1 | ENSMUSG00000043065 |
| rattus_norvegicus | Spice1 | ENSRNOG00000039024 |
Protein
Protein identifiers
Spindle and centriole-associated protein 1 — Q8N0Z3 (reviewed: Q8N0Z3)
Alternative names: Coiled-coil domain-containing protein 52, Spindle and centriole-associated protein
All UniProt accessions (5): Q8N0Z3, C9IZF0, C9J4W3, C9J5T2, H7C5N4
UniProt curated annotations — full annotation on UniProt →
Function. Regulator required for centriole duplication, for proper bipolar spindle formation and chromosome congression in mitosis.
Subunit / interactions. Interacts with CEP120.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Spindle.
RefSeq proteins (4): NP_001318007, NP_001318008, NP_001374868, NP_653319* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR031387 | SPICE1 | Family |
Pfam: PF15678
UniProt features (18 total): modified residue 6, region of interest 3, compositionally biased region 3, sequence variant 2, coiled-coil region 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N0Z3-F1 | 57.38 | 0.13 |
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 (6): 640, 644, 760, 764, 819, 235
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 200 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_CHROMOSOME_LOCALIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CENTRIOLE_REPLICATION, GOBP_CENTRIOLE_ASSEMBLY, GOBP_MITOTIC_SPINDLE_ASSEMBLY, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_ORGANELLE_ASSEMBLY
GO Biological Process (4): regulation of centriole replication (GO:0046599), cell division (GO:0051301), metaphase chromosome alignment (GO:0051310), mitotic spindle assembly (GO:0090307)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): centrosome (GO:0005813), centriole (GO:0005814), spindle (GO:0005819), plasma membrane (GO:0005886), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule organizing center | 3 |
| intracellular membraneless organelle | 3 |
| centriole replication | 1 |
| regulation of centrosome duplication | 1 |
| regulation of organelle assembly | 1 |
| cellular process | 1 |
| chromosome localization | 1 |
| nuclear chromosome segregation | 1 |
| mitotic sister chromatid segregation | 1 |
| mitotic spindle organization | 1 |
| spindle assembly | 1 |
| mitotic nuclear division | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule cytoskeleton | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cilium | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
992 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPICE1 | CEP120 | Q8N960 | 992 |
| SPICE1 | TACC1 | O75410 | 786 |
| SPICE1 | TACC3 | Q9Y6A5 | 746 |
| SPICE1 | CPAP | Q9HC77 | 738 |
| SPICE1 | POC5 | Q8NA72 | 705 |
| SPICE1 | PCNT | O95613 | 661 |
| SPICE1 | CNTLN | Q9NXG0 | 608 |
| SPICE1 | CEP135 | Q66GS9 | 603 |
| SPICE1 | CEP295 | Q9C0D2 | 579 |
| SPICE1 | CEP192 | Q8TEP8 | 578 |
| SPICE1 | CEP152 | O94986 | 574 |
| SPICE1 | POC1B | Q8TC44 | 571 |
| SPICE1 | CCP110 | O43303 | 570 |
| SPICE1 | CEP63 | Q96MT8 | 563 |
| SPICE1 | NIN | Q8N4C6 | 561 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| WRAP73 | CEP135 | psi-mi:“MI:0914”(association) | 0.890 |
| CSNK1E | PER1 | psi-mi:“MI:0914”(association) | 0.840 |
| KDM1A | SPICE1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SPICE1 | KDM1A | psi-mi:“MI:0915”(physical association) | 0.670 |
| STXBP1 | SPICE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Cep120 | SPICE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP135 | SPICE1 | psi-mi:“MI:0914”(association) | 0.540 |
| CEP135 | SPICE1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| KXD1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SPICE1 | SERPINB2 | psi-mi:“MI:0914”(association) | 0.530 |
| TGM5 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | TRAK2 | psi-mi:“MI:0914”(association) | 0.530 |
| CEP162 | OFD1 | psi-mi:“MI:0914”(association) | 0.420 |
| SSX2IP | SPICE1 | psi-mi:“MI:0914”(association) | 0.420 |
| SPICE1 | IPO5 | psi-mi:“MI:0914”(association) | 0.420 |
| SPICE1 | Them6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPICE1 | GSK3A | psi-mi:“MI:0915”(physical association) | 0.400 |
| GSK3B | SPICE1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPICE1 | STAT2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPICE1 | USP20 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPICE1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Cep120 | TBC1D31 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP43 | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| MYH6 | ELOC | psi-mi:“MI:0914”(association) | 0.350 |
| STAT5A | R3HDM2 | psi-mi:“MI:0914”(association) | 0.350 |
| OFD1 | CCDC14 | psi-mi:“MI:0914”(association) | 0.350 |
| RGMA | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| Ccn1 | SRGAP3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (248): SPICE1 (Proximity Label-MS), SPICE1 (Proximity Label-MS), SPICE1 (Proximity Label-MS), SPICE1 (Affinity Capture-Western), SPICE1 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), IPO5 (Affinity Capture-MS), PTCD3 (Affinity Capture-MS), PA2G4 (Affinity Capture-MS), SPICE1 (Affinity Capture-Western), SPICE1 (Proximity Label-MS), SPICE1 (Proximity Label-MS), SPICE1 (Proximity Label-MS), ARHGAP21 (Proximity Label-MS), ARID1B (Proximity Label-MS)
ESM2 similar proteins: A1YF19, A2T767, B0K035, F1RCE7, F7BHS0, O95997, P0DPK0, P23999, P97613, Q08B36, Q08BD8, Q09HN1, Q0VA20, Q14140, Q2KHM9, Q2QD14, Q2QD15, Q2T9X8, Q2WG80, Q3SZY3, Q3UHI0, Q3V1H1, Q5R7F8, Q5RBY6, Q5RKG1, Q5XG16, Q5ZJU5, Q6A000, Q6AYH4, Q6DF94, Q7SXC6, Q8BHE0, Q8BHZ5, Q8C804, Q8N0Z3, Q8QGU6, Q8R080, Q8WWK9, Q96C57, Q96FF9
Diamond homologs: Q2T9X8, Q5RBY6, Q5RKG1, Q6DF94, Q8C804, Q8N0Z3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 101 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 | 8 | 20.8× | 5e-07 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 8 | 20.8× | 5e-07 |
| Centrosome maturation | 5 | 20.8× | 2e-04 |
| AURKA Activation by TPX2 | 8 | 20.0× | 5e-07 |
| Regulation of PLK1 Activity at G2/M Transition | 9 | 18.7× | 5e-07 |
| Recruitment of mitotic centrosome proteins and complexes | 8 | 17.8× | 1e-06 |
| Anchoring of the basal body to the plasma membrane | 9 | 16.7× | 5e-07 |
| Recruitment of NuMA to mitotic centrosomes | 8 | 15.3× | 3e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of autophagy | 7 | 17.3× | 7e-05 |
| cilium assembly | 10 | 8.8× | 7e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
144 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 116 |
| Likely benign | 13 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1527035 | GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432) | Pathogenic |
SpliceAI
3440 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:113444837:C:CT | acceptor_gain | 1.0000 |
| 3:113444837:C:T | acceptor_gain | 1.0000 |
| 3:113444838:A:T | acceptor_gain | 1.0000 |
| 3:113448033:CTTA:C | donor_loss | 1.0000 |
| 3:113448036:A:AC | donor_gain | 1.0000 |
| 3:113448037:C:CC | donor_gain | 1.0000 |
| 3:113448037:CCTT:C | donor_gain | 1.0000 |
| 3:113448136:TCCTT:T | acceptor_gain | 1.0000 |
| 3:113448137:CCTTC:C | acceptor_gain | 1.0000 |
| 3:113448138:CTT:C | acceptor_gain | 1.0000 |
| 3:113448141:C:CC | acceptor_gain | 1.0000 |
| 3:113450357:A:C | donor_gain | 1.0000 |
| 3:113453457:GGTAC:G | donor_loss | 1.0000 |
| 3:113453458:GTACT:G | donor_loss | 1.0000 |
| 3:113453459:TAC:T | donor_loss | 1.0000 |
| 3:113453460:AC:A | donor_loss | 1.0000 |
| 3:113453461:CTC:C | donor_loss | 1.0000 |
| 3:113453462:TCAC:T | donor_loss | 1.0000 |
| 3:113453463:CACAG:C | donor_loss | 1.0000 |
| 3:113453464:A:AC | donor_gain | 1.0000 |
| 3:113453464:AC:A | donor_loss | 1.0000 |
| 3:113453465:C:CC | donor_gain | 1.0000 |
| 3:113453465:C:CT | donor_loss | 1.0000 |
| 3:113453465:CAGA:C | donor_gain | 1.0000 |
| 3:113453465:CAGAA:C | donor_gain | 1.0000 |
| 3:113453488:T:A | donor_gain | 1.0000 |
| 3:113457129:GACTT:G | donor_loss | 1.0000 |
| 3:113457130:ACTTA:A | donor_loss | 1.0000 |
| 3:113457133:TA:T | donor_loss | 1.0000 |
| 3:113457134:A:AC | donor_gain | 1.0000 |
AlphaMissense
5592 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:113506512:A:G | W32R | 0.994 |
| 3:113506512:A:T | W32R | 0.994 |
| 3:113468146:A:G | L383P | 0.993 |
| 3:113506510:C:A | W32C | 0.993 |
| 3:113506510:C:G | W32C | 0.993 |
| 3:113468179:A:G | L372P | 0.992 |
| 3:113465699:A:G | L414P | 0.989 |
| 3:113445331:A:C | F848L | 0.988 |
| 3:113445331:A:T | F848L | 0.988 |
| 3:113445333:A:G | F848L | 0.988 |
| 3:113499576:G:T | R52S | 0.988 |
| 3:113445336:A:G | W847R | 0.986 |
| 3:113445336:A:T | W847R | 0.986 |
| 3:113450438:C:G | A741P | 0.986 |
| 3:113468190:G:C | F368L | 0.986 |
| 3:113468190:G:T | F368L | 0.986 |
| 3:113468192:A:G | F368L | 0.986 |
| 3:113450452:C:G | R736P | 0.985 |
| 3:113450458:A:G | L734S | 0.985 |
| 3:113450425:A:G | L745P | 0.984 |
| 3:113465711:A:G | L410P | 0.984 |
| 3:113499575:C:G | R52P | 0.984 |
| 3:113503211:A:G | L39P | 0.984 |
| 3:113468158:A:G | L379P | 0.983 |
| 3:113465717:C:G | R408P | 0.981 |
| 3:113468167:A:G | L376P | 0.979 |
| 3:113503181:A:G | L49P | 0.979 |
| 3:113445332:A:G | F848S | 0.978 |
| 3:113465703:C:G | A413P | 0.978 |
| 3:113450445:A:C | S738R | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000041775 (3:113454993 G>C), RS1000064088 (3:113495050 T>C), RS1000067093 (3:113445183 T>C), RS1000074581 (3:113454765 T>G), RS1000081788 (3:113487379 G>A), RS1000134076 (3:113458223 C>T), RS1000161594 (3:113507038 C>A), RS1000179278 (3:113482421 T>C), RS1000322135 (3:113461005 C>T), RS1000422897 (3:113481981 A>G), RS1000480566 (3:113513861 A>C,G), RS1000497575 (3:113444977 T>C), RS1000513111 (3:113462809 G>A,C), RS1000518373 (3:113494705 CAAAAT>C), RS1000579426 (3:113468894 G>C)
Disease associations
OMIM: gene MIM:613447 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_7 | Prostate cancer | 4.000000e-13 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 3 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | decreases methylation | 1 |
| dicrotophos | decreases expression | 1 |
| zinc chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Zinc | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Acrylamide | 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.