STMN3
gene geneOn this page
Also known as SCLIP
Summary
STMN3 (stathmin 3, HGNC:15926) is a protein-coding gene on chromosome 20q13.33, encoding Stathmin-3 (Q9NZ72). Exhibits microtubule-destabilizing activity, which is antagonized by STAT3.
This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 50861 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 26 total
- MANE Select transcript:
NM_015894
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15926 |
| Approved symbol | STMN3 |
| Name | stathmin 3 |
| Location | 20q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SCLIP |
| Ensembl gene | ENSG00000197457 |
| Ensembl biotype | protein_coding |
| OMIM | 608362 |
| Entrez | 50861 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 9 protein_coding
ENST00000370053, ENST00000540534, ENST00000631920, ENST00000632676, ENST00000634126, ENST00000860150, ENST00000860151, ENST00000940055, ENST00000953346
RefSeq mRNA: 2 — MANE Select: NM_015894
NM_001276310, NM_015894
CCDS: CCDS13529, CCDS63330
Canonical transcript exons
ENST00000370053 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001451631 | 63639712 | 63641397 |
| ENSE00001451639 | 63653327 | 63653424 |
| ENSE00001762902 | 63642108 | 63642299 |
| ENSE00003685717 | 63644214 | 63644309 |
| ENSE00003787918 | 63643756 | 63643931 |
Expression profiles
Bgee: expression breadth ubiquitous, 230 present calls, max score 99.59.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.7891 / max 1604.5738, expressed in 1571 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188401 | 48.1160 | 1517 |
| 188402 | 6.6874 | 1195 |
| 188400 | 3.8332 | 1015 |
| 188396 | 0.3878 | 84 |
| 188395 | 0.2775 | 66 |
| 188404 | 0.2750 | 136 |
| 188403 | 0.1387 | 81 |
| 188394 | 0.0736 | 41 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pons | UBERON:0000988 | 99.59 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.24 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.15 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.15 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.14 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.12 | gold quality |
| endothelial cell | CL:0000115 | 99.07 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.06 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.05 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.00 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.97 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.95 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.87 | gold quality |
| entorhinal cortex | UBERON:0002728 | 98.80 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.77 | gold quality |
| parietal lobe | UBERON:0001872 | 98.71 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.67 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.63 | gold quality |
| temporal lobe | UBERON:0001871 | 98.50 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.41 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.41 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.38 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.35 | gold quality |
| amygdala | UBERON:0001876 | 98.31 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.29 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.15 | gold quality |
| cerebellum | UBERON:0002037 | 98.08 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.91 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.89 | gold quality |
| neocortex | UBERON:0001950 | 97.87 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 14.64 |
| E-HCAD-25 | yes | 9.41 |
| E-HCAD-10 | yes | 4.93 |
| E-ANND-3 | yes | 4.03 |
| E-GEOD-36552 | no | 216.38 |
| E-GEOD-110499 | no | 28.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting STMN3, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-6769B-5P | 98.73 | 64.91 | 1092 |
| HSA-MIR-6776-5P | 98.54 | 67.43 | 1304 |
| HSA-MIR-4305 | 97.94 | 68.63 | 533 |
Literature-anchored findings (GeneRIF, showing 8)
- The substantial expression of SCLIP in most tissues points out a novel function outside the nervous system and raises the possibility that its coexpression with stathmin could provide some degree of functional redundancy. (PMID:12676564)
- SCLIP and SCG10 were colocalized to the Golgi apparatus of chromaffin cells in vivo and shared localization with CHGA as it transited the Golgi. (PMID:18549247)
- Studies suggest that a STAT3-SCLIP interaction is required to preserve SCLIP stability and contributes to the maintenance of normal epithelial morphology. (PMID:19824884)
- Specific serine-proline phosphorylation and glycogen synthase kinase 3beta-directed subcellular targeting of stathmin 3/Sclip in neurons (PMID:22577147)
- We found that reduced expression and possibly posttranslational modification of SCLIP following paclitaxel treatment impaired the microtubule-destabilizing effect of SCLIP (PMID:23543364)
- STMN and SCG10 are similarly targeted by JNK but there are clear differences in JNK recognition and phosphorylation of the closely related family member, SCLIP. (PMID:24589734)
- Overexpression of ID1 in two different cell lines induced STMN3 and GSPT1 at the transcriptional level, while depletion of ID1 reduced their expression. (PMID:25028095)
- our findings demonstrate that SCLIP plays an important role in glioma pathology, and may represent a novel therapeutic strategy against human glioma. (PMID:25511414)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stmn3 | ENSDARG00000038465 |
| mus_musculus | Stmn3 | ENSMUSG00000027581 |
| rattus_norvegicus | Stmn3 | ENSRNOG00000013657 |
| drosophila_melanogaster | stai | FBGN0266521 |
Paralogs (4): STMN4 (ENSG00000015592), STMN2 (ENSG00000104435), STMN1 (ENSG00000117632), STMND1 (ENSG00000230873)
Protein
Protein identifiers
Stathmin-3 — Q9NZ72 (reviewed: Q9NZ72)
Alternative names: SCG10-like protein
All UniProt accessions (3): A0A0J9YW36, A0A0J9YXY4, Q9NZ72
UniProt curated annotations — full annotation on UniProt →
Function. Exhibits microtubule-destabilizing activity, which is antagonized by STAT3.
Subunit / interactions. Interacts with STAT3. Interacts with CLU (secreted form); this interaction may act as an important modulator during neuronal differentiation.
Subcellular location. Golgi apparatus. Cell projection. Growth cone. Axon. Cytoplasm. Cytosol.
Tissue specificity. Neuron specific.
Post-translational modifications. N-terminal palmitoylation promotes specific anchoring to the cytosolic leaflet of Golgi membranes and subsequent vesicular trafficking along dendrites and axons. Neuronal Stathmins are substrates for palmitoyltransferases ZDHHC3, ZDHHC7 and ZDHHC15.
Similarity. Belongs to the stathmin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NZ72-1 | 1 | yes |
| Q9NZ72-2 | 2 |
RefSeq proteins (2): NP_001263239, NP_056978* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000956 | Stathmin_fam | Family |
| IPR030514 | Stathmin_CS | Conserved_site |
| IPR036002 | Stathmin_sf | Homologous_superfamily |
Pfam: PF00836
UniProt features (16 total): modified residue 7, lipid moiety-binding region 2, chain 1, domain 1, splice variant 1, sequence conflict 1, region of interest 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NZ72-F1 | 85.85 | 0.61 |
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 (9): 73, 81, 22, 24, 50, 60, 65, 68, 72
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 219 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_MICROTUBULE_DEPOLYMERIZATION
GO Biological Process (9): blastocyst hatching (GO:0001835), microtubule depolymerization (GO:0007019), nervous system development (GO:0007399), negative regulation of neuron projection development (GO:0010977), regulation of microtubule polymerization or depolymerization (GO:0031110), cytoplasmic microtubule organization (GO:0031122), neuron projection development (GO:0031175), negative regulation of Rac protein signal transduction (GO:0035021), regulation of cytoskeleton organization (GO:0051493)
GO Molecular Function (3): tubulin binding (GO:0015631), protein domain specific binding (GO:0019904), protein binding (GO:0005515)
GO Cellular Component (7): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), growth cone (GO:0030426), neuron projection (GO:0043005), axon (GO:0030424), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| microtubule polymerization or depolymerization | 2 |
| supramolecular fiber organization | 2 |
| cytoplasm | 2 |
| blastocyst development | 1 |
| hatching | 1 |
| protein depolymerization | 1 |
| system development | 1 |
| regulation of neuron projection development | 1 |
| neuron projection development | 1 |
| negative regulation of cell projection organization | 1 |
| regulation of microtubule cytoskeleton organization | 1 |
| microtubule cytoskeleton organization | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| Rac protein signal transduction | 1 |
| regulation of Rac protein signal transduction | 1 |
| negative regulation of small GTPase mediated signal transduction | 1 |
| cytoskeleton organization | 1 |
| regulation of organelle organization | 1 |
| cytoskeletal protein binding | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| plasma membrane bounded cell projection | 1 |
| neuron projection | 1 |
Protein interactions and networks
STRING
1980 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STMN3 | ZGPAT | Q8N5A5 | 523 |
| STMN3 | GMEB2 | Q9UKD1 | 515 |
| STMN3 | C2orf80 | Q0P641 | 498 |
| STMN3 | ARFRP1 | Q13795 | 472 |
| STMN3 | LIME1 | Q9H400 | 431 |
| STMN3 | FNDC11 | Q9BVV2 | 418 |
| STMN3 | SLC2A4RG | Q9NR83 | 385 |
| STMN3 | GNG3 | P29798 | 380 |
| STMN3 | RTEL1 | Q9NZ71 | 374 |
| STMN3 | HOXA2 | O43364 | 372 |
| STMN3 | LRPAP1 | P30533 | 370 |
| STMN3 | TMEM239 | Q8WW34 | 360 |
| STMN3 | ARPC3 | O15145 | 352 |
| STMN3 | SV2A | Q7L0J3 | 351 |
| STMN3 | SLC1A2 | P43004 | 350 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UBA7 | ISG15 | psi-mi:“MI:0914”(association) | 0.890 |
| PKN1 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTNNA3 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENKD1 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIPOL1 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STMN3 | CTNNA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARD9 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HGS | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STMN3 | ANKRD11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMARCD1 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM69 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TXLNB | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAT5 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POLR1C | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPANK1 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFC3 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AIRIM | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEKHA7 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF76 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MKRN3 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXOC8 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| P4HA3 | STMN3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (48): STMN3 (Two-hybrid), TRPC5 (Reconstituted Complex), STMN3 (Affinity Capture-RNA), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid), STMN3 (Two-hybrid)
ESM2 similar proteins: A0A088MLT8, A2AQ19, A4FV29, A4IFK9, B3KU38, O14795, O70166, O93388, O95983, P21818, P31395, P50751, P54227, P55821, P63042, P63043, Q09001, Q09002, Q09004, Q09006, Q2KJ58, Q32L68, Q4KUS2, Q4R4N5, Q5F3L9, Q5FVJ5, Q5PSV4, Q5R4C5, Q5R562, Q5R8C6, Q5RAD5, Q62768, Q6GQB5, Q8IVM0, Q8IW50, Q8TBN0, Q8VDV3, Q90987, Q92541, Q93045
Diamond homologs: A4IFK9, A9YWH3, O70166, O93388, P13668, P16949, P21818, P31395, P54227, P55821, P63042, P63043, Q09001, Q09002, Q09004, Q09005, Q09006, Q3T0C7, Q4R4N5, Q4R712, Q5R4C5, Q5R8C6, Q6DUB7, Q90987, Q93045, Q9H169, Q9JHU6, Q9NZ72
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GSK3B | “up-regulates activity” | STMN3 | phosphorylation |
| GSK3A | “up-regulates activity” | STMN3 | phosphorylation |
| CDK5 | unknown | STMN3 | phosphorylation |
| MAPK1 | unknown | STMN3 | phosphorylation |
| STMN3 | “down-regulates quantity by destabilization” | Microtubule_polimerization | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
793 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:63643749:T:TA | donor_gain | 1.0000 |
| 20:63643758:T:TA | donor_gain | 1.0000 |
| 20:63643927:CATGT:C | acceptor_gain | 1.0000 |
| 20:63643929:TGT:T | acceptor_gain | 1.0000 |
| 20:63643930:GT:G | acceptor_gain | 1.0000 |
| 20:63643931:TC:T | acceptor_loss | 1.0000 |
| 20:63643932:C:CC | acceptor_gain | 1.0000 |
| 20:63644212:AC:A | donor_gain | 1.0000 |
| 20:63644212:ACC:A | donor_gain | 1.0000 |
| 20:63644212:ACCC:A | donor_gain | 1.0000 |
| 20:63644213:CC:C | donor_gain | 1.0000 |
| 20:63644213:CCC:C | donor_gain | 1.0000 |
| 20:63644213:CCCC:C | donor_gain | 1.0000 |
| 20:63644305:GTAGG:G | acceptor_gain | 1.0000 |
| 20:63644306:TAGG:T | acceptor_gain | 1.0000 |
| 20:63644310:C:CC | acceptor_gain | 1.0000 |
| 20:63642296:GCGT:G | acceptor_gain | 0.9900 |
| 20:63642297:CGT:C | acceptor_gain | 0.9900 |
| 20:63642297:CGTC:C | acceptor_gain | 0.9900 |
| 20:63642300:C:CC | acceptor_gain | 0.9900 |
| 20:63642300:C:CG | acceptor_loss | 0.9900 |
| 20:63643928:ATGT:A | acceptor_gain | 0.9900 |
| 20:63644207:CACT:C | donor_loss | 0.9900 |
| 20:63644208:ACTC:A | donor_loss | 0.9900 |
| 20:63644209:CTCA:C | donor_loss | 0.9900 |
| 20:63644210:TCAC:T | donor_loss | 0.9900 |
| 20:63644211:C:CG | donor_loss | 0.9900 |
| 20:63644212:A:AC | donor_gain | 0.9900 |
| 20:63644212:A:C | donor_loss | 0.9900 |
| 20:63644213:C:A | donor_loss | 0.9900 |
AlphaMissense
1173 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:63643885:G:C | F54L | 0.999 |
| 20:63643885:G:T | F54L | 0.999 |
| 20:63643887:A:G | F54L | 0.999 |
| 20:63642146:C:G | A149P | 0.998 |
| 20:63642184:A:G | L136P | 0.998 |
| 20:63643759:C:A | R96S | 0.998 |
| 20:63643759:C:G | R96S | 0.998 |
| 20:63643763:C:G | R95P | 0.998 |
| 20:63641375:C:G | R169P | 0.997 |
| 20:63642118:A:G | L158P | 0.997 |
| 20:63643773:C:G | A92P | 0.997 |
| 20:63643886:A:G | F54S | 0.997 |
| 20:63642121:C:G | R157P | 0.996 |
| 20:63642134:C:G | A153P | 0.996 |
| 20:63642151:C:G | R147P | 0.996 |
| 20:63642197:C:G | A132P | 0.996 |
| 20:63643880:A:T | V56D | 0.996 |
| 20:63643895:C:T | G51D | 0.996 |
| 20:63642130:A:G | L154P | 0.995 |
| 20:63642139:A:G | L151P | 0.995 |
| 20:63642259:C:G | R111P | 0.995 |
| 20:63643760:C:G | R96T | 0.995 |
| 20:63644265:A:G | C22R | 0.994 |
| 20:63641376:G:T | R169S | 0.993 |
| 20:63643874:A:G | L58P | 0.993 |
| 20:63644259:A:G | C24R | 0.993 |
| 20:63641388:C:G | A165P | 0.992 |
| 20:63642230:C:G | A121P | 0.992 |
| 20:63642269:C:G | A108P | 0.992 |
| 20:63642271:A:G | L107P | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000121665 (20:63639726 G>A), RS1000320928 (20:63653432 A>G), RS1000440240 (20:63651561 G>A,C), RS1000567247 (20:63644729 A>T), RS1000619377 (20:63649803 T>A,C,G), RS1000720345 (20:63650065 T>A), RS1000915752 (20:63646079 C>T), RS1000970154 (20:63652610 G>A), RS1001131006 (20:63639350 C>A,G), RS1001397739 (20:63655384 T>C), RS1001540286 (20:63650579 A>C,G), RS1001616076 (20:63647115 C>T), RS1001838230 (20:63649336 C>T), RS1001949441 (20:63649686 A>G), RS1002111843 (20:63655288 CAT>C)
Disease associations
OMIM: gene MIM:608362 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000964_24 | Ulcerative colitis | 2.000000e-10 |
| GCST001942_22 | Prostate cancer | 4.000000e-16 |
| GCST004131_34 | Inflammatory bowel disease | 3.000000e-26 |
| GCST004132_110 | Crohn’s disease | 3.000000e-13 |
| GCST004133_15 | Ulcerative colitis | 9.000000e-17 |
| GCST007563_15 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-08 |
| GCST007564_6 | Asthma or allergic disease (pleiotropy) | 3.000000e-10 |
| GCST009856_12 | Leukocyte telomere length | 6.000000e-14 |
| GCST010002_71 | Refractive error | 1.000000e-14 |
| GCST90002390_678 | Mean corpuscular hemoglobin | 1.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, increases methylation | 4 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 2 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tobacco tar | decreases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | affects expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, decreases methylation | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Copper | decreases expression, affects binding | 1 |
| Cyclophosphamide | increases expression | 1 |
| Dactinomycin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression, affects cotreatment | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Glucose | decreases expression | 1 |
| Methyl Methanesulfonate | 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.