SIAE
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Also known as CSE-CMGC87009LSE
Summary
SIAE (sialic acid acetylesterase, HGNC:18187) is a protein-coding gene on chromosome 11q24.2, encoding Sialate O-acetylesterase (Q9HAT2). Catalyzes the removal of O-acetyl ester groups from position 9 of the free diacetylated sialate N-acetyl-9-O-acetylneuraminate (Neu5,9Ac2) in the cytosol and of the diacetylated sialate residues of sialylglycoconjugates in the lysosomes.
This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.
Source: NCBI Gene 54414 — RefSeq curated summary.
At a glance
- Gene–disease (curated): autoimmune disease, susceptibility to, 6 (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 558 total
- Druggable target: yes
- MANE Select transcript:
NM_170601
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18187 |
| Approved symbol | SIAE |
| Name | sialic acid acetylesterase |
| Location | 11q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CSE-C, MGC87009, LSE |
| Ensembl gene | ENSG00000110013 |
| Ensembl biotype | protein_coding |
| OMIM | 610079 |
| Entrez | 54414 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000263593, ENST00000436137, ENST00000525730, ENST00000533613, ENST00000545756, ENST00000618733, ENST00000899891, ENST00000899892, ENST00000947745
RefSeq mRNA: 2 — MANE Select: NM_170601
NM_001199922, NM_170601
CCDS: CCDS55795, CCDS8449
Canonical transcript exons
ENST00000263593 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001014285 | 124639710 | 124639867 |
| ENSE00001014286 | 124648066 | 124648175 |
| ENSE00001014287 | 124633113 | 124637202 |
| ENSE00001014289 | 124638542 | 124638737 |
| ENSE00001014293 | 124647365 | 124647498 |
| ENSE00001014294 | 124649619 | 124649796 |
| ENSE00001133647 | 124673642 | 124673739 |
| ENSE00003512275 | 124654655 | 124654793 |
| ENSE00003597209 | 124660628 | 124660803 |
| ENSE00003631543 | 124669360 | 124669521 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 97.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9142 / max 129.1825, expressed in 1776 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122946 | 13.7215 | 1773 |
| 122947 | 0.1104 | 52 |
| 122944 | 0.0659 | 33 |
| 122945 | 0.0164 | 7 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of sigmoid colon | UBERON:0004993 | 97.78 | gold quality |
| rectum | UBERON:0001052 | 97.77 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.73 | gold quality |
| ileal mucosa | UBERON:0000331 | 97.19 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.58 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.51 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.38 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.18 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.63 | gold quality |
| cardiac ventricle | UBERON:0002082 | 93.59 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.60 | gold quality |
| cardiac atrium | UBERON:0002081 | 92.51 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.45 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 92.42 | gold quality |
| myocardium | UBERON:0002349 | 92.11 | gold quality |
| transverse colon | UBERON:0001157 | 92.04 | gold quality |
| apex of heart | UBERON:0002098 | 91.98 | gold quality |
| heart | UBERON:0000948 | 91.72 | gold quality |
| renal medulla | UBERON:0000362 | 91.60 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 91.19 | gold quality |
| duodenum | UBERON:0002114 | 91.04 | gold quality |
| thyroid gland | UBERON:0002046 | 90.82 | gold quality |
| kidney | UBERON:0002113 | 90.71 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.67 | gold quality |
| spinal cord | UBERON:0002240 | 90.59 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.52 | gold quality |
| corpus epididymis | UBERON:0004359 | 90.43 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.27 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.19 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
54 targeting SIAE, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| 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-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
Literature-anchored findings (GeneRIF, showing 11)
- odds ratio for inheriting defective SIAE alleles was 8.6 in all autoimmune subjects, 8.3 in subjects with rheumatoid arthritis, and 7.9 in subjects with type I diabetes (PMID:20555325)
- SIAE expression is upregulated in placentas from pregnancies complicated by preeclampsia. (PMID:21183218)
- Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves’ disease. (PMID:21615338)
- These studies demonstrate that both SIAE and SOAT activities seem to be responsible for the enhanced level of Neu5,9Ac(2) in lymphoblasts, which is a hallmark in acute lymphoblastic leukemia (PMID:21803834)
- SIAE variants play a role in primary biliary cirrhosis. (PMID:22257840)
- There is no evidence for SIAE genetic variants affecting patients with vitiligo. (PMID:22913750)
- The analysis does not support a role for rare variants in SIAE in the pathogenesis of autoimmune Addison’s disease. (PMID:23011869)
- SIAE may be associated with autoimmunity. (PMID:23308225)
- We found A467V SIAE variants (c.1400C>T, rs7941523) in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome. (PMID:24748456)
- Authors determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population (PMID:26535733)
- analysis of whether SIAE rare variants associated with phenotype of juvenile idiopathic arthritis (JIA) and autoimmunity risk in families with primary antibody deficiencies(PADS); 3 novel variants were found in patients with JIA and in their healthy relatives without autoimmunity; none of PAD patients or their relatives had SIAE defects; results show SIAE rare variants are not causative of autoimmunity as single defects (PMID:28900629)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | siae | ENSDARG00000040527 |
| mus_musculus | Siae | ENSMUSG00000001942 |
| rattus_norvegicus | Siae | ENSRNOG00000031266 |
Protein
Protein identifiers
Sialate O-acetylesterase — Q9HAT2 (reviewed: Q9HAT2)
Alternative names: H-Lse, Sialic acid-specific 9-O-acetylesterase
All UniProt accessions (1): Q9HAT2
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the removal of O-acetyl ester groups from position 9 of the free diacetylated sialate N-acetyl-9-O-acetylneuraminate (Neu5,9Ac2) in the cytosol and of the diacetylated sialate residues of sialylglycoconjugates in the lysosomes. Together with the sialate-O-acetyltransferase they regulate the balance of acetylated sialoglycoconjugates, key players in various processes such as cell-cell interactions, host-pathogen recognition, and tumor antigenicity.
Subcellular location. Lysosome Cytoplasm.
Tissue specificity. Widely expressed with high expression in the testis, prostate, and colon.
Disease relevance. Autoimmune disease 6 (AIS6) [MIM:613551] Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HAT2-1 | 1 | yes |
| Q9HAT2-2 | 2 |
RefSeq proteins (2): NP_001186851, NP_733746* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005181 | SASA | Domain |
| IPR036514 | SGNH_hydro_sf | Homologous_superfamily |
| IPR039329 | SIAE | Family |
Pfam: PF03629
Enzyme classification (BRENDA):
- EC 3.1.1.53 — sialate O-acetylesterase (BRENDA: 40 organisms, 142 substrates, 52 inhibitors, 19 Km, 3 kcat entries)
Substrate kinetics (BRENDA)
10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| N-ACETYL-9-O-ACETYLNEURAMINIC ACID | 0.8–18 | 4 |
| 4-NITROPHENYL ACETATE | 0.0512–0.129 | 2 |
| 4-YETHYLUMBELLIFERYL ACETATE | 0.13–0.17 | 2 |
| 9-O-ACETYL-SIALIC ACID | 1.1–1.3 | 2 |
| N-ACETYL-9-O-LACTOYLNEURAMINIC ACID | 0.9–24 | 2 |
| 4-O-ACETYL-SIALIC ACID | 0.3 | 1 |
| ACETYL-COA | 1.28 | 1 |
| ALACEPRIL | 22 | 1 |
| ALPHA-NAPHTHYL ACETATE | 1.71 | 1 |
| SPIRONOLACTONE | 0.652 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- N-acetyl-9-O-acetylneuraminate + H2O = N-acetylneuraminate + acetate + H(+) (RHEA:22600)
- an Ac-O-9-sialoglycoconjugate + H2O = a sialoglycoconjugate + acetate + H(+) (RHEA:80763)
UniProt features (32 total): sequence variant 23, glycosylation site 6, signal peptide 1, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HAT2-F1 | 92.26 | 0.87 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (6): 107, 138, 267, 290, 401, 422
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 124 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, SP3_Q3, GGGTGGRR_PAX4_03, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, TGGAAA_NFAT_Q4_01, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, MATSUDA_NATURAL_KILLER_DIFFERENTIATION, chr11q24, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY
GO Biological Process (2): regulation of immune system process (GO:0002682), carbohydrate metabolic process (GO:0005975)
GO Molecular Function (5): sialate O-acetylesterase activity (GO:0001681), sialate 9-O-acetylesterase activity (GO:0106330), protein binding (GO:0005515), hydrolase activity (GO:0016787), carboxylic ester hydrolase activity (GO:0052689)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), lysosome (GO:0005764), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune system process | 1 |
| regulation of biological process | 1 |
| primary metabolic process | 1 |
| acetylesterase activity | 1 |
| sialate O-acetylesterase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| lytic vacuole | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
682 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SIAE | CASD1 | Q96PB1 | 796 |
| SIAE | CD22 | P20273 | 728 |
| SIAE | SLC2A1 | P11166 | 685 |
| SIAE | NANS | Q9NR45 | 591 |
| SIAE | ABHD2 | P08910 | 519 |
| SIAE | SLC35A1 | P78382 | 512 |
| SIAE | NPIPB4 | C9JG80 | 507 |
| SIAE | CES5A | Q6NT32 | 507 |
| SIAE | ST3GAL5 | Q9UNP4 | 506 |
| SIAE | ST3GAL2 | Q16842 | 492 |
| SIAE | TMEM242 | Q9NWH2 | 490 |
| SIAE | LYN | P07948 | 484 |
| SIAE | SIGLEC15 | Q6ZMC9 | 463 |
| SIAE | PLBD2 | Q8NHP8 | 457 |
| SIAE | ZNF280C | Q8ND82 | 450 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| SIAE | FBXO2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| SIAE | NPTX1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| VPS37C | psi-mi:“MI:0914”(association) | 0.350 | |
| DEFB109B | CHST10 | psi-mi:“MI:0914”(association) | 0.350 |
| EDDM3A | PLXNA2 | psi-mi:“MI:0914”(association) | 0.350 |
| SIAE | NPTXR | psi-mi:“MI:0914”(association) | 0.350 |
| CLGN | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| EPHA1 | SIAE | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (94): SIAE (Affinity Capture-MS), CPE (Affinity Capture-MS), HLA-B (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), NPTX1 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), MANEAL (Affinity Capture-MS), OAF (Affinity Capture-MS), TMEM30A (Affinity Capture-MS), MR1 (Affinity Capture-MS), COCH (Affinity Capture-MS), FAM162A (Affinity Capture-MS), GPR98 (Affinity Capture-MS), GFPT2 (Affinity Capture-MS), MOXD1 (Affinity Capture-MS)
ESM2 similar proteins: A0JMP0, A4IG42, A5PJN5, A6QLU7, A6QQ07, F1N2K1, O00462, O18835, O43280, O77695, O95479, O97524, P08236, P10253, P12265, P19813, P70699, P82450, Q3U4H6, Q4FAT7, Q4FZV0, Q5E985, Q5FVF9, Q5R5N6, Q5R7A9, Q5R8R3, Q5RFU0, Q5XHI4, Q641Z7, Q6P6V7, Q6P7A9, Q6QR59, Q6RHW4, Q76HN1, Q865R1, Q8BFW6, Q8BNE1, Q8BP56, Q8C0L6, Q8CFX1
Diamond homologs: P70665, P82450, Q5RFU0, Q9HAT2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
558 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 348 |
| Likely benign | 166 |
| Benign | 22 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2225 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:124638738:C:CC | acceptor_gain | 1.0000 |
| 11:124654650:CATA:C | donor_loss | 1.0000 |
| 11:124654651:ATACC:A | donor_loss | 1.0000 |
| 11:124654652:TACCT:T | donor_loss | 1.0000 |
| 11:124654653:ACCT:A | donor_loss | 1.0000 |
| 11:124654654:C:A | donor_loss | 1.0000 |
| 11:124654791:TAT:T | acceptor_gain | 1.0000 |
| 11:124654791:TATC:T | acceptor_loss | 1.0000 |
| 11:124654792:ATCT:A | acceptor_loss | 1.0000 |
| 11:124654793:TCTG:T | acceptor_loss | 1.0000 |
| 11:124654794:C:CG | acceptor_loss | 1.0000 |
| 11:124654795:T:A | acceptor_loss | 1.0000 |
| 11:124669354:CCTTA:C | donor_loss | 1.0000 |
| 11:124669355:CTTA:C | donor_loss | 1.0000 |
| 11:124669356:TTA:T | donor_loss | 1.0000 |
| 11:124669357:TACC:T | donor_loss | 1.0000 |
| 11:124669358:ACCTT:A | donor_loss | 1.0000 |
| 11:124669359:C:CG | donor_loss | 1.0000 |
| 11:124673950:G:GT | donor_gain | 1.0000 |
| 11:124675415:GAGA:G | donor_gain | 1.0000 |
| 11:124675417:GA:G | donor_gain | 1.0000 |
| 11:124675419:G:GG | donor_gain | 1.0000 |
| 11:124691686:A:AG | acceptor_gain | 1.0000 |
| 11:124691687:T:G | acceptor_gain | 1.0000 |
| 11:124691689:T:TA | acceptor_gain | 1.0000 |
| 11:124691691:TCCA:T | acceptor_loss | 1.0000 |
| 11:124691694:A:AG | acceptor_gain | 1.0000 |
| 11:124691694:AG:A | acceptor_gain | 1.0000 |
| 11:124691694:AGG:A | acceptor_loss | 1.0000 |
| 11:124691695:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
3428 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:124660672:A:G | W121R | 0.990 |
| 11:124660672:A:T | W121R | 0.990 |
| 11:124647429:C:G | R301P | 0.987 |
| 11:124637087:C:G | R479P | 0.986 |
| 11:124647433:A:G | W300R | 0.981 |
| 11:124647433:A:T | W300R | 0.981 |
| 11:124660661:A:C | S124R | 0.981 |
| 11:124660661:A:T | S124R | 0.981 |
| 11:124660663:T:G | S124R | 0.981 |
| 11:124638699:A:G | L388P | 0.980 |
| 11:124639741:C:G | D365H | 0.980 |
| 11:124638719:T:A | K381N | 0.978 |
| 11:124638719:T:G | K381N | 0.978 |
| 11:124648075:A:G | W275R | 0.977 |
| 11:124648075:A:T | W275R | 0.977 |
| 11:124638702:C:G | R387P | 0.976 |
| 11:124638720:T:A | K381I | 0.976 |
| 11:124649665:A:G | W226R | 0.976 |
| 11:124649665:A:T | W226R | 0.976 |
| 11:124654673:A:G | W176R | 0.976 |
| 11:124654673:A:T | W176R | 0.976 |
| 11:124660664:A:C | C123W | 0.974 |
| 11:124649752:A:G | W197R | 0.971 |
| 11:124649752:A:T | W197R | 0.971 |
| 11:124649733:A:G | L203P | 0.970 |
| 11:124639740:T:G | D365A | 0.969 |
| 11:124649703:A:G | L213P | 0.968 |
| 11:124649753:G:C | C196W | 0.968 |
| 11:124660666:A:G | C123R | 0.966 |
| 11:124649663:C:A | W226C | 0.965 |
dbSNP variants (sampled 300 via entrez): RS1000151876 (11:124634220 G>A), RS1000178570 (11:124656153 C>A), RS1000215927 (11:124675064 T>G), RS1000272722 (11:124674841 A>T), RS1000334970 (11:124637321 A>G), RS1000340572 (11:124643065 T>C), RS1000358431 (11:124645323 T>C), RS1000464609 (11:124658360 AT>A), RS1000556280 (11:124663832 C>A), RS1000669766 (11:124648476 G>A), RS1000719933 (11:124632927 C>G), RS1000789767 (11:124642098 A>T), RS1000978218 (11:124661692 A>G), RS1000982215 (11:124662005 T>A), RS1001209800 (11:124666753 G>A)
Disease associations
OMIM: gene MIM:610079 | disease phenotypes: MIM:613551, MIM:604302
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| autoimmune disease, susceptibility to, 6 | Limited | Unknown |
Mondo (2): autoimmune disease, susceptibility to, 6 (MONDO:0013303), juvenile idiopathic arthritis (MONDO:0011429)
Orphanet (1): Juvenile idiopathic arthritis (Orphanet:92)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002388_11 | Serum metabolite levels | 5.000000e-14 |
| GCST006865_13 | Bipolar disorder | 6.000000e-06 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001171 | Arthritis, Juvenile | C05.550.114.122; C05.799.056; C17.300.775.049; C20.111.198 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523459 (SINGLE PROTEIN)
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 | affects expression, decreases methylation, increases expression | 6 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| belinostat | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Cadmium | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4335411 | Binding | Binding affinity to SIAE in human Huh7.5.1 cell lysate infected with HCV at 0.1 to 10 uM incubated for 1 hr followed by 10000 mJ/cm2 UV irradiation for 10 mins and subsequent addition of biotin-N3 measured after 1 hr by ABPP Gel-based by LC | Discovery, Optimization, and Target Identification of Novel Potent Broad-Spectrum Antiviral Inhibitors. — J Med Chem |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TL07 | HAP1 SIAE (-) 1 | Cancer cell line | Male |
| CVCL_TL08 | HAP1 SIAE (-) 2 | Cancer cell line | Male |
| CVCL_TL09 | HAP1 SIAE (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
230 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00443430 | PHASE4 | COMPLETED | Trial of Early Aggressive Drug Therapy in Juvenile Idiopathic Arthritis |
| NCT00637780 | PHASE4 | TERMINATED | Study To Determine The Pharmacokinetics Of Sulfasalazine In Children With Juvenile Idiopathic Arthritis |
| NCT00731965 | PHASE4 | COMPLETED | Safety and Efficacy of Measles, Mumps, Rubella Vaccination in Juvenile Idiopathic Arthritis |
| NCT00792233 | PHASE4 | COMPLETED | Determining Predictors of Safe Discontinuation of Anti-TNF Treatment in JIA |
| NCT00807846 | PHASE4 | COMPLETED | A Study To Evaluate The Effects Of Celecoxib (Celebrex®) Or Naproxen On Blood Pressure In Pediatric Subjects |
| NCT00815282 | PHASE4 | COMPLETED | Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease |
| NCT01151644 | PHASE4 | UNKNOWN | Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases |
| NCT01287715 | PHASE4 | UNKNOWN | Withdrawal of Etanercept After Successful Treatment of Juvenile Idiopathic Arthritis |
| NCT01544114 | PHASE4 | COMPLETED | A Safety Study of VIMOVO in Adolescents With Juvenile Idiopathic Arthritis (JIA) |
| NCT01563185 | PHASE4 | COMPLETED | Open-label Safety and Pharmacokinetic Study of DUEXIS® (Ibuprofen and Famotidine) Tablets in Juvenile Idiopathic Arthritis |
| NCT01734382 | PHASE4 | COMPLETED | A Study of Decreased Dose Frequency in Participants With Systemic Juvenile Arthritis Who Experience Laboratory Abnormalities During Treatment With RoActemra/Actemra (Tocilizumab) |
| NCT02024334 | PHASE4 | UNKNOWN | Efficacy Study of Leflunomide to Treat Juvenile Idiopathic Arthritis |
| NCT02196480 | PHASE4 | COMPLETED | 23-valent Polysaccharide Pneumococcal Vaccine in Juvenile Idiopathic Arthritis Patients Under Anti-TNF Therapy |
| NCT03069638 | PHASE4 | COMPLETED | Intranasal Dexmedetomidine Sedation During Intra-articular Joint Injections in Pediatric Population |
| NCT03301883 | PHASE4 | COMPLETED | A Study of Tocilizumab in Chinese Participants With Systemic Juvenile Idiopathic Arthritis (sJIA) |
| NCT03816397 | PHASE4 | COMPLETED | Adalimumab in JIA-associated Uveitis Stopping Trial |
| NCT04614311 | PHASE4 | COMPLETED | Strategies Towards Personalised Treatment in Juvenile Idiopathic Arthritis (JIA). |
| NCT04687930 | PHASE4 | COMPLETED | Genicular Nerve Block in Juvenile Idiopathic Arthritis |
| NCT05879419 | PHASE4 | ACTIVE_NOT_RECRUITING | Recombinant Herpes Zoster Vaccine in Patients With Autoimmune Rheumatic Diseases |
| NCT06618937 | PHASE4 | NOT_YET_RECRUITING | Toward Personalized Medicine to Guide Drug Withdrawal in Children with Juvenile Idiopathic Arthritis in Clinical Remission |
| NCT06653634 | PHASE4 | RECRUITING | Optimizing Treatment for Patients With Juvenile Idiopathic Arthritis in Sustained Remission: The MOVE-JIA Trial |
| NCT07087912 | PHASE4 | RECRUITING | Safety and Immunogenicity of the Live Attenuated Tetravalent Butantan-Dengue Vaccine in Autoimmune Rheumatic Diseases |
| NCT07428551 | PHASE4 | COMPLETED | Comparative Study of Leflunomide Plus Methotrexate Versus Methotrexate Monotherapy in Refractory Polyarticular Juvenile Idiopathic Arthritis Patients |
| NCT00012506 | PHASE3 | UNKNOWN | The Safety and Efficacy of a Tumor Necrosis Factor Receptor Fusion Protein on Uveitis Associated With Juvenile Rheumatoid Arthritis |
| NCT00034853 | PHASE3 | COMPLETED | Meloxicam [Mobic] in Juvenile Rheumatoid Arthritis (JRA) |
| NCT00078806 | PHASE3 | TERMINATED | Safety and Efficacy Study of Etanercept (Enbrel®) In Children With Systemic Onset Juvenile Rheumatoid Arthritis |
| NCT00095173 | PHASE3 | COMPLETED | BMS-188667 in Children and Adolescents With Juvenile Rheumatoid Arthritis |
| NCT00279747 | PHASE3 | COMPLETED | A One Year Double-blind Trial to Investigate the Efficacy and Safety of Meloxicam Oral Suspension in Juvenile Rheumatoid Arthritis (JRA/JIA) |
| NCT00420251 | PHASE3 | COMPLETED | Efficacy and Safety of Growth Hormone Treatment in Juvenile Idiopathic Arthritis |
| NCT00570934 | PHASE3 | COMPLETED | Supplementation With Vitamin D, Calcium or Both on Calcium Absorption and Bone Mineral Content in Children With JRA |
| NCT00642460 | PHASE3 | COMPLETED | A Study of RoActemra/Actemra (Tocilizumab) in Patients With Active Systemic Juvenile Idiopathic Arthritis (JIA) |
| NCT00652925 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Celecoxib Suspension Compared to Naproxen Suspension in Patients With JRA |
| NCT00690573 | PHASE3 | COMPLETED | Safety, Efficacy, and Pharmacokinetics of Adalimumab in Japanese Children With Juvenile Rheumatoid Arthritis |
| NCT00775437 | PHASE3 | COMPLETED | Active Juvenile Idiopathic Arthritis (JIA) Compassionate Use |
| NCT00988221 | PHASE3 | COMPLETED | A Study of Tocilizumab in Patients With Active Polyarticular Juvenile Idiopathic Arthritis |
| NCT01015547 | PHASE3 | COMPLETED | Aggressive Combination Drug Therapy in Very Early Polyarticular Juvenile Idiopathic Arthritis |
| NCT01230827 | PHASE3 | TERMINATED | A Study of the Safety and Efficacy of CNTO 148 (Golimumab) in Children With Juvenile Idiopathic Arthritis (JIA) and Multiple Joint Involvement Who Have Poor Response to Methotrexate (GO KIDS) |
| NCT01541917 | PHASE3 | COMPLETED | Efficacy of Web-based Pain Self-management for Adolescents With Juvenile Idiopathic Arthritis |
| NCT01575769 | PHASE3 | TERMINATED | An Extension Study to WA19977 in Patients With Active Polyarticular-Course Juvenile Idiopathic Arthritis |
| NCT01667471 | PHASE3 | COMPLETED | A Long-Term Extension Study of RoActemra/Actemra (Tocilizumab) in Patients With Juvenile Idiopathic Arthritis Who Completed WA19977 Core Study |
Related Atlas pages
- Associated diseases: autoimmune disease, susceptibility to, 6
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autoimmune disease, susceptibility to, 6, juvenile idiopathic arthritis