GAS2L3
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Summary
GAS2L3 (growth arrest specific 2 like 3, HGNC:27475) is a protein-coding gene on chromosome 12q23.1, encoding GAS2-like protein 3 (Q86XJ1). Cytoskeletal linker protein.
Enables actin binding activity and microtubule binding activity. Involved in actin cytoskeleton organization and microtubule cytoskeleton organization. Located in actin cytoskeleton and microtubule cytoskeleton.
Source: NCBI Gene 283431 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 104 total
- MANE Select transcript:
NM_174942
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27475 |
| Approved symbol | GAS2L3 |
| Name | growth arrest specific 2 like 3 |
| Location | 12q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000139354 |
| Ensembl biotype | protein_coding |
| OMIM | 617224 |
| Entrez | 283431 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 16 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000266754, ENST00000537247, ENST00000539410, ENST00000547739, ENST00000547754, ENST00000548067, ENST00000548113, ENST00000550295, ENST00000552854, ENST00000851885, ENST00000851886, ENST00000851887, ENST00000851888, ENST00000851889, ENST00000851890, ENST00000851891, ENST00000851892, ENST00000851893, ENST00000851894, ENST00000851895
RefSeq mRNA: 4 — MANE Select: NM_174942
NM_001303130, NM_001303131, NM_001363672, NM_174942
CCDS: CCDS76590, CCDS9079
Canonical transcript exons
ENST00000547754 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000937761 | 100618449 | 100618587 |
| ENSE00000937762 | 100622275 | 100622382 |
| ENSE00002350286 | 100623562 | 100628288 |
| ENSE00002370999 | 100591736 | 100591856 |
| ENSE00002401819 | 100573684 | 100573785 |
| ENSE00003467750 | 100617744 | 100617807 |
| ENSE00003491585 | 100594875 | 100594922 |
| ENSE00003555091 | 100601638 | 100601753 |
| ENSE00003569688 | 100600382 | 100600550 |
| ENSE00003694255 | 100612000 | 100612141 |
Expression profiles
Bgee: expression breadth ubiquitous, 204 present calls, max score 98.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.7525 / max 218.5841, expressed in 1473 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127579 | 6.1696 | 1420 |
| 127580 | 0.8691 | 509 |
| 127581 | 0.5046 | 217 |
| 127584 | 0.2092 | 90 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trigeminal ganglion | UBERON:0001675 | 98.57 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.51 | gold quality |
| sural nerve | UBERON:0015488 | 95.78 | gold quality |
| tibial nerve | UBERON:0001323 | 95.22 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.29 | silver quality |
| ventricular zone | UBERON:0003053 | 93.10 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 89.25 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.98 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.58 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.54 | gold quality |
| colonic mucosa | UBERON:0000317 | 87.20 | gold quality |
| secondary oocyte | CL:0000655 | 86.03 | gold quality |
| ganglionic eminence | UBERON:0004023 | 86.03 | gold quality |
| visceral pleura | UBERON:0002401 | 84.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.56 | gold quality |
| kidney epithelium | UBERON:0004819 | 81.82 | gold quality |
| skin of hip | UBERON:0001554 | 81.58 | gold quality |
| ileal mucosa | UBERON:0000331 | 80.85 | gold quality |
| gall bladder | UBERON:0002110 | 80.32 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 80.24 | gold quality |
| rectum | UBERON:0001052 | 80.23 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.99 | gold quality |
| placenta | UBERON:0001987 | 79.37 | gold quality |
| parietal pleura | UBERON:0002400 | 79.09 | silver quality |
| jejunal mucosa | UBERON:0000399 | 78.30 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.27 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.25 | gold quality |
| oocyte | CL:0000023 | 77.22 | gold quality |
| amniotic fluid | UBERON:0000173 | 76.42 | gold quality |
| cartilage tissue | UBERON:0002418 | 76.26 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
148 targeting GAS2L3, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
Literature-anchored findings (GeneRIF, showing 4)
- tubulin acetylation drives GAS2-like 3 localization to MTs and may provide functional insights into the role of GAS2-like 3. (PMID:21561867)
- GAS2L3, a target gene of the DREAM complex, is required for cytokinesis and genomic stability. (PMID:22344256)
- show that the Gas2l3 protein is targeted for ubiquitin-mediated proteolysis by the APC/C(Cdh1) complex, but not by the APC/C(Cdc20) complex, and is phosphorylated by Cdk1 in mitosis (PMID:23469016)
- show that the GAR domain of GAS2L3 is required for localization of GAS2L3 to the constriction zone (PMID:24571573)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gas2l3 | ENSDARG00000045880 |
| mus_musculus | Gas2l3 | ENSMUSG00000074802 |
| rattus_norvegicus | Gas2l3 | ENSRNOG00000063755 |
Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), DRP2 (ENSG00000102385), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)
Protein
Protein identifiers
GAS2-like protein 3 — Q86XJ1 (reviewed: Q86XJ1)
Alternative names: Growth arrest-specific protein 2-like 3
All UniProt accessions (4): Q86XJ1, F8VSB7, G3V1N3, H0YIT6
UniProt curated annotations — full annotation on UniProt →
Function. Cytoskeletal linker protein. May promote and stabilize the formation of the actin and microtubule network.
Subunit / interactions. Interacts (via CH domain) with F-actin. Interacts (via C terminus) with microtubules. Interacts with MAPRE1.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Expressed in the pancreas, heart, liver, placenta, brain, skeletal muscle, kidney and lung.
Domain organisation. The GAR domain modulates the binding strength to each cytoskeletal network.
Similarity. Belongs to the GAS2 family.
RefSeq proteins (4): NP_001290059, NP_001290060, NP_001350601, NP_777602* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001715 | CH_dom | Domain |
| IPR003108 | GAR_dom | Domain |
| IPR036534 | GAR_dom_sf | Homologous_superfamily |
| IPR036872 | CH_dom_sf | Homologous_superfamily |
Pfam: PF00307, PF02187
UniProt features (18 total): compositionally biased region 8, domain 2, modified residue 2, sequence variant 2, mutagenesis site 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86XJ1-F1 | 60.52 | 0.27 |
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 (2): 441, 570
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 373–374 | no effect on microtubule localization and mapre1 binding; when associated with 461-n-n-462. |
| 461–462 | no effect on microtubule localization and mapre1 binding; when associated with 373-n-n-374. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 197 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, FISCHER_G2_M_CELL_CYCLE, GOBP_ACTIN_FILAMENT_ORGANIZATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_UP, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, LIAO_METASTASIS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOMF_ACTIN_BINDING, BASAKI_YBX1_TARGETS_DN, FISCHER_DREAM_TARGETS
GO Biological Process (3): microtubule cytoskeleton organization (GO:0000226), actin cytoskeleton organization (GO:0030036), actin crosslink formation (GO:0051764)
GO Molecular Function (4): actin binding (GO:0003779), microtubule binding (GO:0008017), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), microtubule (GO:0005874), actin cytoskeleton (GO:0015629), microtubule cytoskeleton (GO:0015630), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoskeleton organization | 2 |
| cytoskeleton | 2 |
| microtubule-based process | 1 |
| actin filament-based process | 1 |
| actin filament organization | 1 |
| cytoskeletal protein binding | 1 |
| tubulin binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
900 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GAS2L3 | G2E3 | Q7L622 | 611 |
| GAS2L3 | WDR76 | Q9H967 | 574 |
| GAS2L3 | NCAPD2 | Q15021 | 572 |
| GAS2L3 | NUF2 | Q9BZD4 | 559 |
| GAS2L3 | CKAP2 | Q8WWK9 | 552 |
| GAS2L3 | DLGAP5 | Q15398 | 549 |
| GAS2L3 | PIMREG | Q9BSJ6 | 545 |
| GAS2L3 | CKAP5 | Q14008 | 524 |
| GAS2L3 | PSRC1 | Q6PGN9 | 523 |
| GAS2L3 | DSCC1 | Q9BVC3 | 522 |
| GAS2L3 | GINS2 | Q9Y248 | 516 |
| GAS2L3 | KIF23 | Q02241 | 506 |
| GAS2L3 | CHAF1B | Q13112 | 488 |
| GAS2L3 | CASP8AP2 | Q9UKL3 | 479 |
| GAS2L3 | CDCA2 | Q69YH5 | 472 |
IntAct
27 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AURKB | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.580 |
| AURKB | GAS2L3 | psi-mi:“MI:0403”(colocalization) | 0.580 |
| MYL6 | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZIC1 | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAS2L3 | MYL6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAS2L3 | TSR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FNDC3B | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAS2L3 | BIRC5 | psi-mi:“MI:0914”(association) | 0.560 |
| BIRC5 | GAS2L3 | psi-mi:“MI:0914”(association) | 0.560 |
| BIRC5 | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDCA8 | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.500 |
| GAS2L3 | MFHAS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GAS2L3 | H1-1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DND1 | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC4A1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| DCTN1 | NACA | psi-mi:“MI:2364”(proximity) | 0.270 |
| GAS2L3 | KIF20A | psi-mi:“MI:0403”(colocalization) | 0.270 |
| GAS2L3 | SPAST | psi-mi:“MI:0403”(colocalization) | 0.270 |
| TSR2 | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FNDC3B | GAS2L3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (52): GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Proximity Label-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-MS), GAS2L3 (Affinity Capture-RNA), GAS2L3 (Reconstituted Complex)
ESM2 similar proteins: A0JMZ4, D3YUB6, D4A0X3, E9Q555, F1MJR8, F1QB81, P0C2N5, P51957, P56715, Q0VF22, Q14699, Q1X8D7, Q29RJ0, Q2PFD7, Q2T9I9, Q3U8K7, Q3ULZ2, Q3UPF5, Q3UWW6, Q5DW34, Q5EXX3, Q5REF4, Q5SSZ5, Q5SW75, Q5T7B8, Q5XKL5, Q5ZLE9, Q60DG4, Q65Z40, Q6DFV3, Q6KAQ7, Q6NRK3, Q6NWW5, Q6PI47, Q76I76, Q76I79, Q7TSH4, Q7Z5K2, Q811D2, Q86XJ1
Diamond homologs: A0A1L8H8C0, A0A1L8HFX9, D3ZHV2, D3ZUE1, O43903, O94854, P11862, Q03001, Q3UWW6, Q5SSG4, Q69ZZ9, Q86XJ1, Q8JZP9, Q8NHY3, Q91ZU6, Q99501, Q9QXZ0, Q9UPN3, Q9W3Y4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GAS2L3 | up-regulates | F-actin_assembly |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 17 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 |
|---|---|---|---|
| M Phase | 5 | 30.0× | 3e-05 |
| Cell Cycle, Mitotic | 5 | 21.9× | 7e-05 |
| Cell Cycle | 5 | 16.4× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitotic cytokinesis | 5 | 86.4× | 2e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
104 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 9 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1747 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:100573781:GCCTG:G | donor_gain | 1.0000 |
| 12:100573783:CTGGT:C | donor_loss | 1.0000 |
| 12:100573784:TG:T | donor_gain | 1.0000 |
| 12:100573784:TGG:T | donor_loss | 1.0000 |
| 12:100573785:GG:G | donor_gain | 1.0000 |
| 12:100573786:G:GG | donor_gain | 1.0000 |
| 12:100573786:GTG:G | donor_loss | 1.0000 |
| 12:100573787:T:G | donor_loss | 1.0000 |
| 12:100594874:GAAAA:G | acceptor_gain | 1.0000 |
| 12:100594923:G:GG | donor_gain | 1.0000 |
| 12:100600379:TAGGT:T | acceptor_loss | 1.0000 |
| 12:100600380:A:AG | acceptor_gain | 1.0000 |
| 12:100600380:A:T | acceptor_loss | 1.0000 |
| 12:100600381:G:GA | acceptor_loss | 1.0000 |
| 12:100600381:G:GG | acceptor_gain | 1.0000 |
| 12:100600381:GGT:G | acceptor_gain | 1.0000 |
| 12:100600381:GGTA:G | acceptor_gain | 1.0000 |
| 12:100600381:GGTAT:G | acceptor_gain | 1.0000 |
| 12:100600546:ATTAG:A | donor_loss | 1.0000 |
| 12:100600547:TTAG:T | donor_loss | 1.0000 |
| 12:100600549:AGGT:A | donor_loss | 1.0000 |
| 12:100600550:GGTGA:G | donor_loss | 1.0000 |
| 12:100600552:T:G | donor_loss | 1.0000 |
| 12:100601634:TTAG:T | acceptor_loss | 1.0000 |
| 12:100601636:A:AG | acceptor_gain | 1.0000 |
| 12:100601637:G:GG | acceptor_gain | 1.0000 |
| 12:100601749:CAGGG:C | donor_gain | 1.0000 |
| 12:100601750:AGGG:A | donor_gain | 1.0000 |
| 12:100601751:GGG:G | donor_gain | 1.0000 |
| 12:100601751:GGGG:G | donor_gain | 1.0000 |
AlphaMissense
4459 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:100612051:T:C | F119L | 1.000 |
| 12:100612053:C:A | F119L | 1.000 |
| 12:100612053:C:G | F119L | 1.000 |
| 12:100623604:T:A | W267R | 1.000 |
| 12:100623604:T:C | W267R | 1.000 |
| 12:100623606:G:C | W267C | 1.000 |
| 12:100623606:G:T | W267C | 1.000 |
| 12:100600524:T:C | L54P | 0.999 |
| 12:100600532:T:A | W57R | 0.999 |
| 12:100600532:T:C | W57R | 0.999 |
| 12:100612058:C:A | A121D | 0.999 |
| 12:100612061:G:C | R122P | 0.999 |
| 12:100612072:G:C | A126P | 0.999 |
| 12:100612079:T:C | F128S | 0.999 |
| 12:100617780:T:C | L161P | 0.999 |
| 12:100617795:G:C | R166P | 0.999 |
| 12:100622344:G:A | G240R | 0.999 |
| 12:100622344:G:C | G240R | 0.999 |
| 12:100622348:G:C | R241P | 0.999 |
| 12:100622350:T:C | Y242H | 0.999 |
| 12:100622350:T:G | Y242D | 0.999 |
| 12:100622351:A:C | Y242S | 0.999 |
| 12:100622354:G:C | R243P | 0.999 |
| 12:100622374:T:C | F250L | 0.999 |
| 12:100622376:T:A | F250L | 0.999 |
| 12:100622376:T:G | F250L | 0.999 |
| 12:100622381:G:T | R252I | 0.999 |
| 12:100623581:T:A | V259D | 0.999 |
| 12:100623584:T:C | M260T | 0.999 |
| 12:100623584:T:G | M260R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000024468 (12:100610771 CA>C,CAA), RS1000075347 (12:100621928 T>A,C), RS1000278444 (12:100589365 C>G), RS1000307210 (12:100573425 C>T), RS1000426562 (12:100622242 C>A,T), RS1000491900 (12:100596085 C>G,T), RS1000545936 (12:100603608 C>A,T), RS1000606224 (12:100603227 C>T), RS1000670293 (12:100615480 T>C), RS1000675736 (12:100615136 G>A), RS1000731666 (12:100622858 AGAATCAGTAT>A), RS1000740625 (12:100601434 C>G,T), RS1000912642 (12:100571842 T>C,G), RS1000915226 (12:100616685 G>A), RS1001102642 (12:100610111 A>G)
Disease associations
OMIM: gene MIM:617224 | 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 |
|---|---|---|
| GCST001827_1 | Squamous cell carcinoma | 1.000000e-10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 3 |
| Acetaminophen | increases expression, affects expression | 2 |
| Cadmium | decreases expression, increases abundance | 2 |
| Estradiol | decreases expression, increases expression, affects cotreatment | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| propionaldehyde | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | decreases 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 |
| Dasatinib | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Azathioprine | decreases expression | 1 |
| Benzene | increases expression | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | 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.