CHID1
geneOn this page
Also known as MGC3234FLJ42707SI-CLP
Summary
CHID1 (chitinase domain containing 1, HGNC:28474) is a protein-coding gene on chromosome 11p15.5, encoding Chitinase domain-containing protein 1 (Q9BWS9). Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization.
Enables oligosaccharide binding activity. Involved in negative regulation of cytokine production involved in inflammatory response. Located in several cellular components, including late endosome; lysosome; and trans-Golgi network.
Source: NCBI Gene 66005 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 76 total — 1 pathogenic
- MANE Select transcript:
NM_023947
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28474 |
| Approved symbol | CHID1 |
| Name | chitinase domain containing 1 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC3234, FLJ42707, SI-CLP |
| Ensembl gene | ENSG00000177830 |
| Ensembl biotype | protein_coding |
| OMIM | 615692 |
| Entrez | 66005 |
Gene structure
Transcript identifiers
Ensembl transcripts: 66 — 57 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000323578, ENST00000429789, ENST00000436108, ENST00000449825, ENST00000454838, ENST00000524538, ENST00000524832, ENST00000525225, ENST00000525840, ENST00000526714, ENST00000528154, ENST00000528426, ENST00000528521, ENST00000528534, ENST00000528581, ENST00000529539, ENST00000530939, ENST00000531010, ENST00000531859, ENST00000532909, ENST00000533056, ENST00000533059, ENST00000534207, ENST00000534254, ENST00000903752, ENST00000903753, ENST00000903754, ENST00000903755, ENST00000903756, ENST00000903757, ENST00000903758, ENST00000903759, ENST00000903760, ENST00000903761, ENST00000903762, ENST00000903763, ENST00000903764, ENST00000903765, ENST00000903766, ENST00000903767, ENST00000903768, ENST00000903769, ENST00000903770, ENST00000903771, ENST00000903772, ENST00000924111, ENST00000924112, ENST00000924113, ENST00000924114, ENST00000924115, ENST00000924116, ENST00000924117, ENST00000924118, ENST00000924119, ENST00000924120, ENST00000970720, ENST00000970721, ENST00000970722, ENST00000970723, ENST00000970724, ENST00000970725, ENST00000970726, ENST00000970727, ENST00000970728, ENST00000970729, ENST00000970730
RefSeq mRNA: 5 — MANE Select: NM_023947
NM_001142674, NM_001142675, NM_001142676, NM_001142677, NM_023947
CCDS: CCDS44510, CCDS44511, CCDS7722
Canonical transcript exons
ENST00000323578 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001958037 | 867859 | 869956 |
| ENSE00002141308 | 910775 | 910810 |
| ENSE00003481765 | 902198 | 902330 |
| ENSE00003535970 | 870121 | 870163 |
| ENSE00003538547 | 899340 | 899401 |
| ENSE00003592892 | 883148 | 883303 |
| ENSE00003594152 | 884068 | 884169 |
| ENSE00003613969 | 902962 | 903111 |
| ENSE00003621317 | 900004 | 900110 |
| ENSE00003624404 | 900936 | 900980 |
| ENSE00003657827 | 904706 | 904859 |
| ENSE00003658118 | 870419 | 870499 |
| ENSE00003693169 | 893427 | 893519 |
Expression profiles
Bgee: expression breadth ubiquitous, 252 present calls, max score 97.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.1529 / max 104.0594, expressed in 1813 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117847 | 28.6360 | 1811 |
| 117850 | 0.2646 | 103 |
| 117852 | 0.0734 | 34 |
| 117849 | 0.0591 | 29 |
| 117853 | 0.0575 | 14 |
| 117851 | 0.0239 | 11 |
| 117854 | 0.0213 | 8 |
| 117848 | 0.0076 | 2 |
| 206082 | 0.0059 | 4 |
| 117855 | 0.0035 | 1 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 97.86 | gold quality |
| body of pancreas | UBERON:0001150 | 97.27 | gold quality |
| right testis | UBERON:0004534 | 97.05 | gold quality |
| left testis | UBERON:0004533 | 96.81 | gold quality |
| pancreas | UBERON:0001264 | 96.14 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.07 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.00 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.00 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.97 | gold quality |
| right uterine tube | UBERON:0001302 | 95.89 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.86 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.81 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.61 | gold quality |
| spleen | UBERON:0002106 | 95.59 | gold quality |
| right coronary artery | UBERON:0001625 | 95.56 | gold quality |
| right ovary | UBERON:0002118 | 95.36 | gold quality |
| pituitary gland | UBERON:0000007 | 95.32 | gold quality |
| left ovary | UBERON:0002119 | 95.32 | gold quality |
| testis | UBERON:0000473 | 95.16 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.92 | gold quality |
| gall bladder | UBERON:0002110 | 94.87 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.72 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.71 | gold quality |
| body of stomach | UBERON:0001161 | 94.67 | gold quality |
| adrenal cortex | UBERON:0001235 | 94.64 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.63 | gold quality |
| adrenal gland | UBERON:0002369 | 94.63 | gold quality |
| ascending aorta | UBERON:0001496 | 94.59 | gold quality |
| left coronary artery | UBERON:0001626 | 94.59 | gold quality |
| endocervix | UBERON:0000458 | 94.56 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 27.39 |
| E-ANND-3 | yes | 17.99 |
| E-CURD-112 | no | 3.74 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting CHID1, 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-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-3191-3P | 99.45 | 63.94 | 356 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-6751-3P | 98.44 | 66.35 | 835 |
| HSA-MIR-1199-5P | 98.44 | 66.51 | 829 |
| HSA-MIR-4736 | 97.96 | 65.89 | 1287 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-4253 | 97.48 | 65.11 | 692 |
| HSA-MIR-6862-5P | 97.48 | 64.84 | 713 |
| HSA-MIR-5699-5P | 97.36 | 67.03 | 1014 |
| HSA-MIR-7106-3P | 97.33 | 65.33 | 644 |
Literature-anchored findings (GeneRIF, showing 8)
- The crystals of SI-CLP belong to the space group P3(2)21 with unit cell parameters a=b=99.79 A, c=250.53 A, alpha=beta=90 degrees, gamma=120 degrees. (PMID:19275751)
- Structure of human stabilin-1 interacting chitinase-like protein (SI-CLP) reveals a saccharide-binding cleft with lower sugar-binding selectivity. (PMID:20724479)
- stabilin-1-interacting chitinase-like protein functions as a regulator of the inflammatory response in rheumatoid arthritis by macrophages. (PMID:24470346)
- This review comprehensively analyzes recent data about expression pattern, and involvement of human YKL-40, YKL-39 and SI-CLP in cancer. [review] (PMID:26733160)
- These results indicate that CHID1 positively regulates RLR antiviral signal, revealing the novel mechanism of the RIG-I antiviral signaling pathway. (PMID:31106867)
- CHID1 Is a Novel Prognostic Marker of Non-Small Cell Lung Cancer. (PMID:33466316)
- Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients. (PMID:33924468)
- Chitinase domain containing 1 increase is associated with low survival rate and M0 macrophages infiltrates in colorectal cancer patients. (PMID:35932496)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chid1 | ENSDARG00000069673 |
| mus_musculus | Chid1 | ENSMUSG00000025512 |
| rattus_norvegicus | Chid1 | ENSRNOG00000063613 |
| drosophila_melanogaster | CG8460 | FBGN0031996 |
| caenorhabditis_elegans | WBGENE00019980 |
Paralogs (6): CHI3L2 (ENSG00000064886), OVGP1 (ENSG00000085465), CTBS (ENSG00000117151), CHI3L1 (ENSG00000133048), CHIT1 (ENSG00000133063), CHIA (ENSG00000134216)
Protein
Protein identifiers
Chitinase domain-containing protein 1 — Q9BWS9 (reviewed: Q9BWS9)
Alternative names: Stabilin-1-interacting chitinase-like protein
All UniProt accessions (14): E9PI70, E9PIP0, E9PJ91, E9PJL0, E9PKF1, E9PPA0, E9PPH0, E9PQZ0, E9PRL3, Q9BWS9, H0YC89, H0YCC4, H0YDL6, H0YEA3
UniProt curated annotations — full annotation on UniProt →
Function. Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro).
Subunit / interactions. Interacts with STAB1.
Subcellular location. Secreted. Lysosome.
Tissue specificity. Expressed in cells of monocytic, T, B and epithelial origin.
Induction. Up-regulated by IL4/interleukin-4 and dexamethasone in the macrophages. Up-regulated by glucocorticoid.
Similarity. Belongs to the glycosyl hydrolase 18 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BWS9-1 | 1 | yes |
| Q9BWS9-2 | 2 | |
| Q9BWS9-3 | 3 |
RefSeq proteins (5): NP_001136146, NP_001136147, NP_001136148, NP_001136149, NP_076436* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001223 | Glyco_hydro18_cat | Domain |
| IPR011583 | Chitinase_II/V-like_cat | Domain |
| IPR017853 | GH_hydrolase_sf | Homologous_superfamily |
| IPR029070 | Chitinase_insertion_sf | Homologous_superfamily |
Pfam: PF00704
UniProt features (52 total): helix 16, strand 16, mutagenesis site 6, turn 6, splice variant 2, sequence variant 2, signal peptide 1, chain 1, sequence conflict 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3BXW | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BWS9-F1 | 91.61 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 261 | significantly decreased carbohydrate binding. |
| 277 | no noticeable effect. |
| 302 | significantly decreased carbohydrate binding. |
| 84 | significantly decreased carbohydrate binding. |
| 88 | significantly decreased carbohydrate binding. |
| 110 | significantly decreased carbohydrate binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-114608 | Platelet degranulation |
MSigDB gene sets: 114 (showing top):
GOBP_INFLAMMATORY_RESPONSE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, AP4_Q6, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOCC_TRANS_GOLGI_NETWORK, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_PRODUCTION_OF_MOLECULAR_MEDIATOR_INVOLVED_IN_INFLAMMATORY_RESPONSE, GOBP_CYTOKINE_PRODUCTION, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, AACTTT_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_CYTOKINE_PRODUCTION, CETS1P54_01, GOCC_LYSOSOMAL_LUMEN, GOCC_VACUOLAR_LUMEN
GO Biological Process (4): carbohydrate metabolic process (GO:0005975), innate immune response (GO:0045087), negative regulation of cytokine production involved in inflammatory response (GO:1900016), immune system process (GO:0002376)
GO Molecular Function (3): chitin binding (GO:0008061), oligosaccharide binding (GO:0070492), protein binding (GO:0005515)
GO Cellular Component (10): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), lysosome (GO:0005764), late endosome (GO:0005770), trans-Golgi network (GO:0005802), endomembrane system (GO:0012505), membrane (GO:0016020), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Response to elevated platelet cytosolic Ca2+ | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| primary metabolic process | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| negative regulation of cytokine production | 1 |
| cytokine production involved in inflammatory response | 1 |
| regulation of cytokine production involved in inflammatory response | 1 |
| biological_process | 1 |
| carbohydrate derivative binding | 1 |
| carbohydrate binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| lytic vacuole | 1 |
| endosome | 1 |
| Golgi apparatus subcompartment | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| lysosome | 1 |
| vacuolar lumen | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1055 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHID1 | STAB1 | Q9NY15 | 840 |
| CHID1 | CHI3L2 | Q15782 | 745 |
| CHID1 | CHIT1 | Q13231 | 683 |
| CHID1 | CHIA | Q9BZP6 | 665 |
| CHID1 | CHI3L1 | P30923 | 599 |
| CHID1 | OVGP1 | Q12889 | 565 |
| CHID1 | SLC35A3 | Q9Y2D2 | 488 |
| CHID1 | SLC35D2 | Q76EJ3 | 473 |
| CHID1 | SLC35B4 | Q969S0 | 453 |
| CHID1 | TIMM21 | Q9BVV7 | 433 |
| CHID1 | CHIC1 | Q5VXU3 | 427 |
| CHID1 | CNDP1 | Q96KN2 | 402 |
| CHID1 | RAB29 | O14966 | 396 |
| CHID1 | CNDP2 | Q96KP4 | 388 |
| CHID1 | SLC35B3 | Q9H1N7 | 375 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C1QTNF9 | C1QTNF9B | psi-mi:“MI:0914”(association) | 0.780 |
| B3GNT3 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.670 |
| C1orf54 | EXTL3 | psi-mi:“MI:0914”(association) | 0.530 |
| GPIHBP1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.530 |
| CHID1 | HSPA5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| rep | UQCRB | psi-mi:“MI:0914”(association) | 0.350 |
| PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM106A | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLK15 | SPINT1 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| PSCA | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| ST14 | LIPT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| GPIHBP1 | SAC3D1 | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM25 | NME4 | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| P2RX2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| ASIC4 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM87A | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| NCR3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PI15 | psi-mi:“MI:0914”(association) | 0.350 | |
| MFAP4 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| DPEP2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (92): CHID1 (Affinity Capture-MS), CHID1 (Co-fractionation), GAA (Co-fractionation), MAN2B1 (Co-fractionation), CHID1 (Proximity Label-MS), CHID1 (Affinity Capture-MS), CHID1 (Co-fractionation), CHID1 (Co-fractionation), CHID1 (Proximity Label-MS), CHID1 (Affinity Capture-RNA), CHID1 (Proximity Label-MS), CHID1 (Proximity Label-MS), CHID1 (Proximity Label-MS), CHID1 (Proximity Label-MS), CHID1 (Proximity Label-MS)
ESM2 similar proteins: A0JPQ9, O14657, O14672, O19015, O35598, P09958, P16098, P23188, P23377, P58780, P82993, Q01458, Q01460, Q08169, Q0JJD4, Q10741, Q10743, Q10RB4, Q1L8D2, Q28193, Q29LW1, Q29NU5, Q4V8H8, Q58D55, Q5EAB4, Q5GF25, Q5RFF6, Q66IL0, Q68EX9, Q6NXH2, Q6ZJJ0, Q7SYK0, Q7Z1Z1, Q8BH64, Q8MLZ7, Q8MX31, Q8MX32, Q8MX40, Q8T0R7, Q922Q9
Diamond homologs: A0JPQ9, Q54G42, Q5EAB4, Q5RFF6, Q66IL0, Q68EX9, Q7SYK0, Q922Q9, Q9BWS9, P37531
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1808628 | GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 | Pathogenic |
SpliceAI
3003 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:870117:GCAC:G | donor_loss | 1.0000 |
| 11:870118:CA:C | donor_loss | 1.0000 |
| 11:870119:A:AC | donor_gain | 1.0000 |
| 11:870119:A:AG | donor_loss | 1.0000 |
| 11:870120:C:CC | donor_gain | 1.0000 |
| 11:870120:CCTT:C | donor_gain | 1.0000 |
| 11:870159:GGCTC:G | acceptor_gain | 1.0000 |
| 11:870161:CTC:C | acceptor_gain | 1.0000 |
| 11:870162:TC:T | acceptor_gain | 1.0000 |
| 11:870163:CC:C | acceptor_gain | 1.0000 |
| 11:870164:C:CC | acceptor_gain | 1.0000 |
| 11:870415:TCA:T | donor_loss | 1.0000 |
| 11:870416:CACTT:C | donor_loss | 1.0000 |
| 11:870417:A:AC | donor_gain | 1.0000 |
| 11:870417:ACTT:A | donor_gain | 1.0000 |
| 11:870418:C:CT | donor_gain | 1.0000 |
| 11:870418:CT:C | donor_gain | 1.0000 |
| 11:870418:CTT:C | donor_gain | 1.0000 |
| 11:870418:CTTC:C | donor_gain | 1.0000 |
| 11:870420:T:TA | donor_gain | 1.0000 |
| 11:870495:TGTAC:T | acceptor_gain | 1.0000 |
| 11:870497:TAC:T | acceptor_gain | 1.0000 |
| 11:870498:AC:A | acceptor_gain | 1.0000 |
| 11:870499:CC:C | acceptor_gain | 1.0000 |
| 11:870500:C:CA | acceptor_loss | 1.0000 |
| 11:884066:A:AC | donor_gain | 1.0000 |
| 11:884067:C:CT | donor_gain | 1.0000 |
| 11:884067:CTG:C | donor_gain | 1.0000 |
| 11:884165:CGGTC:C | acceptor_gain | 1.0000 |
| 11:884168:TC:T | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000075417 (11:880567 G>A), RS1000113020 (11:893442 G>A), RS1000118894 (11:886972 C>T), RS1000188214 (11:891354 T>A,G), RS1000215750 (11:877439 GTCTC>G,GTCTCTC), RS1000240364 (11:917176 G>A), RS1000295247 (11:899716 C>T), RS1000363576 (11:904461 T>G), RS1000385292 (11:897408 G>A), RS1000416172 (11:904180 C>G), RS1000436990 (11:902581 G>A), RS1000444226 (11:871697 G>A), RS1000450014 (11:894751 G>A), RS1000628612 (11:868466 C>T), RS1000653503 (11:873992 T>C)
Disease associations
OMIM: gene MIM:615692 | 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 |
|---|---|---|
| GCST002625_2 | Chronic bronchitis and chronic obstructive pulmonary disease | 5.000000e-08 |
| GCST010988_457 | Adult body size | 3.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| bisphenol A | increases expression, affects cotreatment, affects methylation, decreases methylation | 2 |
| Arsenic | affects methylation, affects cotreatment, increases abundance, increases expression | 2 |
| Dexamethasone | decreases reaction, affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| tremortin | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation, decreases methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E8NR | LN229-CHID1 | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic bronchitis