CTBS
gene geneOn this page
Summary
CTBS (chitobiase, HGNC:2496) is a protein-coding gene on chromosome 1p22.3, encoding Di-N-acetylchitobiase (Q01459). Reducing-end exoglycosidase involved in glycan degradation.
Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).
Source: NCBI Gene 1486 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 72 total
- MANE Select transcript:
NM_004388
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2496 |
| Approved symbol | CTBS |
| Name | chitobiase |
| Location | 1p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000117151 |
| Ensembl biotype | protein_coding |
| OMIM | 600873 |
| Entrez | 1486 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000370625, ENST00000370630, ENST00000465118, ENST00000477677, ENST00000863691, ENST00000863692, ENST00000863693, ENST00000863694, ENST00000957715
RefSeq mRNA: 1 — MANE Select: NM_004388
NM_004388
CCDS: CCDS698
Canonical transcript exons
ENST00000370630 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001823837 | 84549611 | 84555199 |
| ENSE00001912166 | 84574239 | 84574440 |
| ENSE00003459781 | 84570582 | 84570720 |
| ENSE00003464156 | 84565841 | 84566012 |
| ENSE00003542715 | 84563735 | 84563832 |
| ENSE00003630858 | 84569931 | 84570139 |
| ENSE00003657005 | 84563257 | 84563418 |
Expression profiles
Bgee: expression breadth ubiquitous, 247 present calls, max score 93.88.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.3997 / max 1445.2533, expressed in 1826 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 12988 | 46.3997 | 1826 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| choroid plexus epithelium | UBERON:0003911 | 93.88 | gold quality |
| monocyte | CL:0000576 | 92.63 | gold quality |
| mononuclear cell | CL:0000842 | 92.28 | gold quality |
| leukocyte | CL:0000738 | 92.11 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 91.13 | gold quality |
| blood | UBERON:0000178 | 90.80 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.10 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.85 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.59 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.58 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.67 | gold quality |
| ascending aorta | UBERON:0001496 | 87.43 | gold quality |
| thoracic aorta | UBERON:0001515 | 87.43 | gold quality |
| gall bladder | UBERON:0002110 | 87.10 | gold quality |
| rectum | UBERON:0001052 | 87.07 | gold quality |
| pancreas | UBERON:0001264 | 86.86 | gold quality |
| right coronary artery | UBERON:0001625 | 86.85 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.23 | gold quality |
| body of pancreas | UBERON:0001150 | 86.12 | gold quality |
| liver | UBERON:0002107 | 86.08 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.72 | gold quality |
| aorta | UBERON:0000947 | 85.53 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.24 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.14 | gold quality |
| left coronary artery | UBERON:0001626 | 85.00 | gold quality |
| granulocyte | CL:0000094 | 84.97 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.86 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 84.80 | gold quality |
| minor salivary gland | UBERON:0001830 | 84.77 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.58 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
129 targeting CTBS, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
Literature-anchored findings (GeneRIF, showing 2)
- biochemical behavior of di-N-acetylchitobiase indicates it has three subsites, -2, -1, +1, in which the reducing-end trimer of any sized chitooligosaccharide is bound. The +1 site is specific for an alpha-anomer. (PMID:16794344)
- Data indicate that infliximab changes the concentration of hexosaminidase (N-acetyl-beta-glucosaminidase; HEX) activity depending on the drug dose and time of administration. (PMID:26768631)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ctbs | ENSDARG00000100002 |
| mus_musculus | Ctbs | ENSMUSG00000028189 |
| rattus_norvegicus | Ctbs | ENSRNOG00000015573 |
| drosophila_melanogaster | Cda5 | FBGN0051973 |
| caenorhabditis_elegans | WBGENE00010686 |
Paralogs (6): CHI3L2 (ENSG00000064886), OVGP1 (ENSG00000085465), CHI3L1 (ENSG00000133048), CHIT1 (ENSG00000133063), CHIA (ENSG00000134216), CHID1 (ENSG00000177830)
Protein
Protein identifiers
Di-N-acetylchitobiase — Q01459 (reviewed: Q01459)
All UniProt accessions (2): Q01459, F6X5H7
UniProt curated annotations — full annotation on UniProt →
Function. Reducing-end exoglycosidase involved in glycan degradation. Hydrolyzes N,N’-diacetylchitobiose (GlnNAc2) and higher chitin-oligosaccharides (GlcNAc(n)) to monomeric GlcNAc acting on reducing-end residues. During N-linked glycoprotein degradation, it cleaves single GlcNAc molecules uniquely from the reducing end of N,N’-diacetylchitobiose units linking oligosaccharides to proteins, and therefore it functions after cleavage of the Asn-GlcNAc bond and asparagine removal by glycosylasparaginase.
Subcellular location. Lysosome.
Pathway. Glycan metabolism; N-glycan degradation. Glycan degradation; chitin degradation.
Similarity. Belongs to the glycosyl hydrolase 18 family.
RefSeq proteins (1): NP_004379* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001223 | Glyco_hydro18_cat | Domain |
| IPR001579 | Glyco_hydro_18_chit_AS | Active_site |
| IPR011583 | Chitinase_II/V-like_cat | Domain |
| IPR017853 | GH_hydrolase_sf | Homologous_superfamily |
| IPR029070 | Chitinase_insertion_sf | Homologous_superfamily |
| IPR047898 | DIAC_cat | Domain |
| IPR051887 | GH18_Domain-Containing | Family |
Pfam: PF00704
Catalyzed reactions (Rhea), 7 shown:
- N,N’-diacetylchitobiose + H2O = 2 N-acetyl-D-glucosamine (RHEA:30671)
- alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-D-GlcNAc + H2O = alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-D-GlcNAc + N-acetyl-D-glucosamine (RHEA:84983)
- alpha-hexa-N-acetylchitohexaose + H2O = beta-penta-N-acetylchitopentaose + N-acetyl-alpha-D-glucosamine (RHEA:85195)
- alpha-penta-N-acetylchitopentaose + H2O = beta-tetra-N-acetylchitotetraose + N-acetyl-alpha-D-glucosamine (RHEA:85199)
- alpha-tetra-N-acetylchitotetraose + H2O = beta-tri-N-acetylchitotriose + N-acetyl-alpha-D-glucosamine (RHEA:85203)
- alpha-tri-N-acetylchitotriose + H2O = beta-di-N-acetylchitobiose + N-acetyl-alpha-D-glucosamine (RHEA:85207)
- alpha-di-N-acetylchitobiose + H2O = N-acetyl-beta-D-glucosamine + N-acetyl-alpha-D-glucosamine (RHEA:85211)
UniProt features (10 total): glycosylation site 4, sequence variant 2, signal peptide 1, chain 1, domain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01459-F1 | 91.87 | 0.88 |
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 (1): 143 (proton donor)
Glycosylation sites (4): 193, 228, 262, 299
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 157 (showing top):
GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN, MARTINEZ_RB1_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_AMINO_SUGAR_CATABOLIC_PROCESS, GOBP_AMINO_SUGAR_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_CATABOLIC_PROCESS
GO Biological Process (4): chitin catabolic process (GO:0006032), oligosaccharide catabolic process (GO:0009313), carbohydrate catabolic process (GO:0016052), carbohydrate metabolic process (GO:0005975)
GO Molecular Function (5): chitinase activity (GO:0004568), chitin binding (GO:0008061), hydrolase activity, acting on glycosyl bonds (GO:0016798), hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), hydrolase activity (GO:0016787)
GO Cellular Component (2): obsolete extracellular space (GO:0005615), lysosome (GO:0005764)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| aminoglycan catabolic process | 1 |
| chitin metabolic process | 1 |
| glucosamine-containing compound catabolic process | 1 |
| oligosaccharide metabolic process | 1 |
| carbohydrate catabolic process | 1 |
| carbohydrate metabolic process | 1 |
| catabolic process | 1 |
| primary metabolic process | 1 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | 1 |
| carbohydrate derivative binding | 1 |
| hydrolase activity | 1 |
| hydrolase activity, acting on glycosyl bonds | 1 |
| catalytic activity | 1 |
| lytic vacuole | 1 |
Protein interactions and networks
STRING
708 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CTBS | GNG5 | P30670 | 968 |
| CTBS | SMIM23 | A6NLE4 | 536 |
| CTBS | MAN2B1 | O00754 | 504 |
| CTBS | PDE12 | Q6L8Q7 | 482 |
| CTBS | OGA | O60502 | 476 |
| CTBS | MAN2C1 | Q9NTJ4 | 456 |
| CTBS | CRISP1 | P54107 | 446 |
| CTBS | KTN1 | Q86UP2 | 428 |
| CTBS | NAGA | P17050 | 418 |
| CTBS | MANBA | O00462 | 401 |
| CTBS | GYG2 | O15488 | 395 |
| CTBS | MAPK6 | Q16659 | 389 |
| CTBS | HSD17B2 | P37059 | 383 |
| CTBS | EHHADH | Q08426 | 383 |
| CTBS | ARIH1 | Q9Y4X5 | 381 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RELB | NFKBIE | psi-mi:“MI:0914”(association) | 0.670 |
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| MARVELD2 | GAP43 | psi-mi:“MI:0914”(association) | 0.530 |
| CMA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| MARVELD2 | RAP2A | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| ST7 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| PTDSS1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| PATE1 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| DEFB136 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| IGF2R | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| DEFB135 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| DEFB123 | PFDN6 | psi-mi:“MI:0914”(association) | 0.350 |
| DEFB110 | NME2P1 | psi-mi:“MI:0914”(association) | 0.350 |
| EDN3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PCP4 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| ELSPBP1 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| IDS | RTCA | psi-mi:“MI:0914”(association) | 0.350 |
| NXPH3 | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| LILRA5 | HGS | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS5 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM25 | CRLF1 | psi-mi:“MI:0914”(association) | 0.350 |
| NDP | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (34): CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-RNA), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS), CTBS (Affinity Capture-MS)
ESM2 similar proteins: O18835, O18998, O42446, O55070, O77588, O77695, O89107, O97524, O97860, P00639, P04066, P08236, P11936, P11937, P12265, P13686, P21704, P22412, P24855, P49183, P49184, P70158, Q01459, Q01460, Q02809, Q13609, Q2QDE6, Q2QDE7, Q2QDE9, Q2QDF0, Q2QDF1, Q4AEE3, Q4FAT7, Q4FZV0, Q5R5N6, Q5R9N3, Q5RFI5, Q63321, Q641Z7, Q6AYS4
Diamond homologs: Q01458, Q01459, Q01460, Q7KWW8, Q8R242, Q8T293, O31682, C0H404
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 48 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 |
|---|---|---|---|
| Defensins | 5 | 44.1× | 6e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
819 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:84563243:A:AC | donor_gain | 1.0000 |
| 1:84563244:C:CC | donor_gain | 1.0000 |
| 1:84563255:A:AC | donor_gain | 1.0000 |
| 1:84563256:C:CC | donor_gain | 1.0000 |
| 1:84563414:TGATC:T | acceptor_gain | 1.0000 |
| 1:84563419:C:A | acceptor_loss | 1.0000 |
| 1:84563419:C:CC | acceptor_gain | 1.0000 |
| 1:84563420:T:A | acceptor_loss | 1.0000 |
| 1:84563729:TCCTA:T | donor_loss | 1.0000 |
| 1:84563731:CTACC:C | donor_loss | 1.0000 |
| 1:84563733:A:AT | donor_loss | 1.0000 |
| 1:84564206:A:C | donor_gain | 1.0000 |
| 1:84565835:TCTTA:T | donor_loss | 1.0000 |
| 1:84565836:CTTA:C | donor_loss | 1.0000 |
| 1:84565837:TTA:T | donor_loss | 1.0000 |
| 1:84565838:TA:T | donor_loss | 1.0000 |
| 1:84565839:A:AC | donor_gain | 1.0000 |
| 1:84565840:C:A | donor_loss | 1.0000 |
| 1:84565840:C:CC | donor_gain | 1.0000 |
| 1:84570721:CT:C | acceptor_loss | 1.0000 |
| 1:84570722:T:C | acceptor_loss | 1.0000 |
| 1:84555030:T:TA | donor_gain | 0.9900 |
| 1:84555031:C:A | donor_gain | 0.9900 |
| 1:84563417:TC:T | acceptor_gain | 0.9900 |
| 1:84563418:CC:C | acceptor_gain | 0.9900 |
| 1:84565834:GTCTT:G | donor_loss | 0.9900 |
| 1:84565839:AC:A | donor_gain | 0.9900 |
| 1:84565840:CC:C | donor_gain | 0.9900 |
| 1:84565840:CCA:C | donor_gain | 0.9900 |
| 1:84565840:CCAG:C | donor_gain | 0.9900 |
AlphaMissense
2517 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:84563773:A:G | W253R | 0.993 |
| 1:84563773:A:T | W253R | 0.993 |
| 1:84555152:A:C | S335R | 0.990 |
| 1:84555152:A:T | S335R | 0.990 |
| 1:84555154:T:G | S335R | 0.990 |
| 1:84555097:A:G | W354R | 0.989 |
| 1:84555097:A:T | W354R | 0.989 |
| 1:84570039:A:C | N139K | 0.989 |
| 1:84570039:A:T | N139K | 0.989 |
| 1:84555140:C:A | K339N | 0.986 |
| 1:84555140:C:G | K339N | 0.986 |
| 1:84570614:G:T | A95D | 0.985 |
| 1:84570709:A:C | F63L | 0.985 |
| 1:84570709:A:T | F63L | 0.985 |
| 1:84570711:A:G | F63L | 0.985 |
| 1:84563766:C:T | G255D | 0.984 |
| 1:84563368:A:C | S282R | 0.983 |
| 1:84563368:A:T | S282R | 0.983 |
| 1:84563370:T:G | S282R | 0.983 |
| 1:84563750:G:C | C260W | 0.982 |
| 1:84565865:C:G | A225P | 0.982 |
| 1:84565917:C:A | M207I | 0.980 |
| 1:84565917:C:G | M207I | 0.980 |
| 1:84565917:C:T | M207I | 0.980 |
| 1:84569977:A:T | V160D | 0.980 |
| 1:84555095:C:A | W354C | 0.979 |
| 1:84555095:C:G | W354C | 0.979 |
| 1:84555032:C:A | W375C | 0.977 |
| 1:84555032:C:G | W375C | 0.977 |
| 1:84563409:A:G | C269R | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000130325 (1:84558552 A>G), RS1000185189 (1:84549896 C>A,T), RS1000251317 (1:84558259 C>G), RS1000278089 (1:84551503 A>C), RS1000289753 (1:84551792 T>C), RS1000336567 (1:84572627 C>G), RS1000396000 (1:84565154 G>A), RS1000515716 (1:84551516 T>G), RS1000726078 (1:84559302 C>A,T), RS1000856700 (1:84564169 T>C,G), RS1001066500 (1:84557501 C>G,T), RS1001087615 (1:84551906 C>G), RS1001146957 (1:84571681 G>A), RS1001370227 (1:84574155 C>A,T), RS1001426224 (1:84553980 T>C)
Disease associations
OMIM: gene MIM:600873 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90006920_2 | Herpes simplex virus 2 mgG-1 antibody levels | 5.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009350 | Anti-herpes simplex virus 2 IgG measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
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 |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 6 |
| trichostatin A | affects cotreatment, decreases expression, increases expression | 3 |
| sodium arsenite | affects expression, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| salinomycin | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| CC-8490 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| NSC 689534 | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.