EXTL2
gene geneOn this page
Summary
EXTL2 (exostosin like glycosyltransferase 2, HGNC:3516) is a protein-coding gene on chromosome 1p21.2, encoding Exostosin-like 2 (Q9UBQ6). Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.
Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm.
Source: NCBI Gene 2135 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 39 total
- MANE Select transcript:
NM_001033025
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3516 |
| Approved symbol | EXTL2 |
| Name | exostosin like glycosyltransferase 2 |
| Location | 1p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000162694 |
| Ensembl biotype | protein_coding |
| OMIM | 602411 |
| Entrez | 2135 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 17 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000370113, ENST00000370114, ENST00000416479, ENST00000450240, ENST00000480774, ENST00000494907, ENST00000535414, ENST00000886538, ENST00000886539, ENST00000886540, ENST00000886541, ENST00000886542, ENST00000886544, ENST00000886545, ENST00000886546, ENST00000886547, ENST00000939947, ENST00000939948, ENST00000939949
RefSeq mRNA: 5 — MANE Select: NM_001033025
NM_001033025, NM_001261440, NM_001261441, NM_001261442, NM_001439
CCDS: CCDS72831, CCDS775
Canonical transcript exons
ENST00000370114 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001067761 | 100876794 | 100876864 |
| ENSE00001067762 | 100894633 | 100894842 |
| ENSE00003641584 | 100888753 | 100888828 |
| ENSE00003717947 | 100877476 | 100877903 |
| ENSE00003848257 | 100872391 | 100874430 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 97.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8832 / max 250.4997, expressed in 1622 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13530 | 8.9486 | 1476 |
| 13529 | 3.7536 | 1238 |
| 13531 | 1.1344 | 643 |
| 13527 | 0.7798 | 444 |
| 13528 | 0.2668 | 116 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 97.45 | gold quality |
| periodontal ligament | UBERON:0008266 | 92.93 | gold quality |
| postcentral gyrus | UBERON:0002581 | 92.07 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.80 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.77 | gold quality |
| ventricular zone | UBERON:0003053 | 90.70 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.68 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.40 | gold quality |
| parietal lobe | UBERON:0001872 | 90.10 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.98 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.85 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.71 | gold quality |
| adrenal cortex | UBERON:0001235 | 89.63 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 89.50 | gold quality |
| adrenal gland | UBERON:0002369 | 89.48 | gold quality |
| embryo | UBERON:0000922 | 89.26 | gold quality |
| placenta | UBERON:0001987 | 89.15 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 88.89 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.85 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 88.52 | gold quality |
| right uterine tube | UBERON:0001302 | 88.24 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.24 | gold quality |
| tibia | UBERON:0000979 | 88.21 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.17 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.16 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.04 | gold quality |
| frontal cortex | UBERON:0001870 | 87.75 | gold quality |
| cortical plate | UBERON:0005343 | 87.66 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 121.83 |
| E-ANND-3 | yes | 8.64 |
| E-MTAB-6524 | no | 136.04 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
92 targeting EXTL2, 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-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-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
Literature-anchored findings (GeneRIF, showing 6)
- donor binding appears to undergo two distinct steps, beginning with the N-acetyl group expelling water from the donor- enzyme complex into the bulk solvent followed by positioning of the donor into the binding site for interactions with the enzyme (PMID:15831490)
- Lysosomal glycosaminoglycan levels in mucopolysaccharidosis are reduced by EXTL2 gene silencing. (PMID:19690583)
- EXTL2 functions to suppress GAG biosynthesis that is enhanced by a xylose kinase and the EXTL2-dependent mechanism that regulates GAG biosynthesis might be a “quality control system” for proteoglycans (PMID:23395820)
- Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. (PMID:32517548)
- The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination. (PMID:32703234)
- Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion. (PMID:36181793)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | extl2 | ENSDARG00000063191 |
| mus_musculus | Extl2 | ENSMUSG00000027963 |
| rattus_norvegicus | Extl2 | ENSRNOG00000014323 |
Paralogs (4): EXTL3 (ENSG00000012232), EXT2 (ENSG00000151348), EXTL1 (ENSG00000158008), EXT1 (ENSG00000182197)
Protein
Protein identifiers
Exostosin-like 2 — Q9UBQ6 (reviewed: Q9UBQ6)
Alternative names: Alpha-1,4-N-acetylhexosaminyltransferase EXTL2, Alpha-GalNAcT EXTL2, EXT-related protein 2, Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
All UniProt accessions (5): C9IYF5, C9JEG3, Q9UBQ6, F5GZK1, Q8N8F1
UniProt curated annotations — full annotation on UniProt →
Function. Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.
Subcellular location. Endoplasmic reticulum membrane Secreted.
Tissue specificity. Ubiquitous.
Post-translational modifications. The soluble form derives from the membrane form by proteolytic processing.
Pathway. Glycan metabolism; heparan sulfate biosynthesis.
Similarity. Belongs to the glycosyltransferase 47 family.
RefSeq proteins (5): NP_001028197, NP_001248369, NP_001248370, NP_001248371, NP_001430 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015338 | GT64_dom | Domain |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
| IPR052427 | Glycosyltrans_GT2/GT47 | Family |
Pfam: PF09258
Enzyme classification (BRENDA):
- EC 2.4.1.223 — glucuronosyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase (BRENDA: 5 organisms, 17 substrates, 1 inhibitors, 0 Km, 0 kcat entries)
Catalyzed reactions (Rhea), 1 shown:
- 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP + H(+) (RHEA:16221)
UniProt features (31 total): binding site 22, chain 2, topological domain 2, site 1, glycosylation site 1, transmembrane region 1, disulfide bond 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UBQ6-F1 | 89.05 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 53–54 (cleavage); 245
Ligand- & substrate-binding residues (22): 100; 100; 129; 129; 134; 134; 150; 150; 151; 151; 152; 152 …
Disulfide bonds (1): 243–296
Glycosylation sites (1): 74
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2022928 | HS-GAG biosynthesis |
| R-HSA-381038 | XBP1(S) activates chaperone genes |
MSigDB gene sets: 225 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, RORA1_01, AAGCCAT_MIR135A_MIR135B, GEORGES_CELL_CYCLE_MIR192_TARGETS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, BILD_SRC_ONCOGENIC_SIGNATURE, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MODULE_205, BRN2_01, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS
GO Biological Process (4): N-acetylglucosamine metabolic process (GO:0006044), heparan sulfate proteoglycan biosynthetic process (GO:0015012), UDP-N-acetylgalactosamine metabolic process (GO:0019276), carbohydrate derivative metabolic process (GO:1901135)
GO Molecular Function (10): glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888), glycosaminoglycan binding (GO:0005539), manganese ion binding (GO:0030145), alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248), glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237), protein binding (GO:0005515), acetylglucosaminyltransferase activity (GO:0008375), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872)
GO Cellular Component (7): Golgi membrane (GO:0000139), extracellular region (GO:0005576), nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Heparan sulfate/heparin (HS-GAG) metabolism | 1 |
| IRE1alpha activates chaperones | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| amino sugar metabolic process | 2 |
| acetylgalactosaminyltransferase activity | 2 |
| cytoplasm | 2 |
| proteoglycan biosynthetic process | 1 |
| heparan sulfate proteoglycan metabolic process | 1 |
| protein O-linked glycosylation via xylose | 1 |
| nucleotide-sugar metabolic process | 1 |
| metabolic process | 1 |
| acetylglucosaminyltransferase activity | 1 |
| carbohydrate derivative binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| UDP-glycosyltransferase activity | 1 |
| hexosyltransferase activity | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| cation binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
590 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EXTL2 | FAM20B | O75063 | 702 |
| EXTL2 | XYLT1 | Q86Y38 | 669 |
| EXTL2 | XYLT2 | Q9H1B5 | 653 |
| EXTL2 | EXT1 | Q16394 | 642 |
| EXTL2 | B4GALT7 | Q9UBV7 | 622 |
| EXTL2 | HS2ST1 | Q7LGA3 | 613 |
| EXTL2 | CSGALNACT1 | Q8TDX6 | 598 |
| EXTL2 | B3GALT6 | Q96L58 | 596 |
| EXTL2 | B3GAT3 | O94766 | 593 |
| EXTL2 | CSGALNACT2 | Q8N6G5 | 582 |
| EXTL2 | PXYLP1 | Q8TE99 | 578 |
| EXTL2 | CCDC188 | H7C350 | 578 |
| EXTL2 | NDST2 | P52849 | 577 |
| EXTL2 | NDST1 | P52848 | 569 |
| EXTL2 | GLCE | O94923 | 569 |
IntAct
88 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| EXTL2 | GFAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXTL2 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXTL2 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EXTL2 | psi-mi:“MI:0915”(physical association) | 0.550 | |
| SLC39A5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| MGAT4C | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNA10 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| SPPL2B | UQCRQ | psi-mi:“MI:0914”(association) | 0.530 |
| SCN3B | ABCC5 | psi-mi:“MI:0914”(association) | 0.530 |
| AOC3 | AOC2 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| CHRNA4 | FZD6 | psi-mi:“MI:0914”(association) | 0.530 |
| CSGALNACT2 | TPST1 | psi-mi:“MI:0914”(association) | 0.530 |
| GJC1 | EXTL2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (70): EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS), EXTL2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1S6M251, A8Y1P7, H0ZAB5, L7YAI7, O43286, O43505, O60513, O60909, O61394, O61397, O88419, P08037, P15291, P15535, P34548, P34678, P70419, Q09323, Q09363, Q14435, Q3YL68, Q5EA01, Q5EA87, Q5QQ54, Q5QQ55, Q5R4S2, Q66HH1, Q6P768, Q6WV17, Q6WV20, Q7K755, Q80WN7, Q80WN8, Q80WN9, Q8BWP8, Q8I136, Q8IA42, Q8MV48, Q8MVS5, Q91YY2
Diamond homologs: A5D7I4, A9X1C8, O01704, O77783, P70428, P97464, Q16394, Q33AH8, Q5IGR6, Q5IGR7, Q5IGR8, Q5RBC3, Q84WB7, Q92935, Q93063, Q9C975, Q9ES89, Q9JK82, Q9JKV7, Q9LY62, Q9SSE8, Q9UBQ6, Q9V730, Q9XZ08, Q9Y169, A2Y6Z7, O01705, O43909, Q3E9A4, Q3EAR7, Q53WK1, Q94AA9, Q9WVL6, Q6NMM8, A9RGD8, Q6H4N0, Q7XLG3, Q8S1X7, Q8S1X8, Q8S1X9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1197 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:100874428:TTG:T | acceptor_gain | 1.0000 |
| 1:100874429:TG:T | acceptor_gain | 1.0000 |
| 1:100874431:C:CC | acceptor_gain | 1.0000 |
| 1:100876860:CACTG:C | acceptor_gain | 1.0000 |
| 1:100876862:CTG:C | acceptor_gain | 1.0000 |
| 1:100888884:T:C | acceptor_gain | 1.0000 |
| 1:100874426:AATTG:A | acceptor_gain | 0.9900 |
| 1:100874429:TGCTG:T | acceptor_loss | 0.9900 |
| 1:100874430:GCTG:G | acceptor_loss | 0.9900 |
| 1:100874431:CT:C | acceptor_loss | 0.9900 |
| 1:100876865:C:CC | acceptor_gain | 0.9900 |
| 1:100888829:C:CC | acceptor_gain | 0.9900 |
| 1:100888884:T:TC | acceptor_gain | 0.9900 |
| 1:100894627:CCTTA:C | donor_loss | 0.9900 |
| 1:100894628:CTTAC:C | donor_loss | 0.9900 |
| 1:100894629:TTA:T | donor_loss | 0.9900 |
| 1:100894630:TA:T | donor_loss | 0.9900 |
| 1:100894631:A:T | donor_loss | 0.9900 |
| 1:100894632:C:CG | donor_loss | 0.9900 |
| 1:100874427:ATTG:A | acceptor_gain | 0.9800 |
| 1:100876188:T:C | acceptor_gain | 0.9800 |
| 1:100876863:TG:T | acceptor_gain | 0.9800 |
| 1:100877732:G:A | donor_gain | 0.9800 |
| 1:100877909:G:GC | acceptor_gain | 0.9800 |
| 1:100889497:A:C | donor_gain | 0.9800 |
| 1:100891568:T:TA | donor_gain | 0.9800 |
| 1:100875847:T:TA | donor_gain | 0.9700 |
| 1:100876788:CATT:C | donor_loss | 0.9700 |
| 1:100876789:ATTA:A | donor_loss | 0.9700 |
| 1:100876790:TTAC:T | donor_loss | 0.9700 |
AlphaMissense
2194 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:100876849:T:A | D150V | 0.998 |
| 1:100874047:A:C | C296W | 0.997 |
| 1:100874206:A:C | C243W | 0.997 |
| 1:100874408:C:T | G176E | 0.997 |
| 1:100877614:A:G | W99R | 0.997 |
| 1:100877614:A:T | W99R | 0.997 |
| 1:100874201:T:A | D245V | 0.996 |
| 1:100877685:C:G | R75T | 0.996 |
| 1:100874048:C:T | C296Y | 0.995 |
| 1:100874207:C:T | C243Y | 0.995 |
| 1:100877684:T:A | R75S | 0.995 |
| 1:100877684:T:G | R75S | 0.995 |
| 1:100877685:C:A | R75I | 0.995 |
| 1:100874036:A:G | L300P | 0.994 |
| 1:100874056:C:A | R293S | 0.994 |
| 1:100874056:C:G | R293S | 0.994 |
| 1:100874057:C:G | R293T | 0.994 |
| 1:100874188:A:C | N249K | 0.994 |
| 1:100874188:A:T | N249K | 0.994 |
| 1:100874201:T:G | D245A | 0.994 |
| 1:100874208:A:G | C243R | 0.994 |
| 1:100874209:G:C | N242K | 0.994 |
| 1:100874209:G:T | N242K | 0.994 |
| 1:100874309:G:A | S209F | 0.994 |
| 1:100876847:C:G | D151H | 0.994 |
| 1:100877609:G:C | N100K | 0.994 |
| 1:100877609:G:T | N100K | 0.994 |
| 1:100877619:A:T | V97E | 0.994 |
| 1:100874048:C:G | C296S | 0.993 |
| 1:100874049:A:G | C296R | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000057002 (1:100872452 A>T), RS1000065415 (1:100896758 A>G), RS1000095794 (1:100877000 G>C), RS1000115193 (1:100876671 C>T), RS1000890729 (1:100890305 G>C), RS1000940768 (1:100890691 T>C), RS1000961585 (1:100884173 C>T), RS1001020858 (1:100896135 T>C,G), RS1001348364 (1:100890831 A>G), RS1002039319 (1:100894787 C>G,T), RS1002242561 (1:100888311 T>A), RS1002259620 (1:100881880 C>A), RS1002445194 (1:100878664 G>A), RS1002507816 (1:100872135 T>C), RS1002839559 (1:100875338 G>C)
Disease associations
OMIM: gene MIM:602411 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001198_20 | Multiple sclerosis | 4.000000e-08 |
| GCST001198_77 | Multiple sclerosis | 4.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| ginger extract | increases expression, decreases reaction, increases abundance | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression, decreases reaction, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Mitoxantrone | affects response to substance | 1 |
| Oils, Volatile | increases expression, decreases reaction, increases abundance | 1 |
| Quercetin | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | 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.