CHIC2
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Also known as BTL
Summary
CHIC2 (cysteine rich hydrophobic domain 2, HGNC:1935) is a protein-coding gene on chromosome 4q12, encoding Cysteine-rich hydrophobic domain-containing protein 2 (Q9UKJ5).
This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia.
Source: NCBI Gene 26511 — RefSeq curated summary.
At a glance
- Gene–disease (curated): acute myeloid leukemia (No Known Disease Relationship, GenCC)
- GWAS associations: 12
- Clinical variants (ClinVar): 21 total
- Phenotypes (HPO): 3
- MANE Select transcript:
NM_012110
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1935 |
| Approved symbol | CHIC2 |
| Name | cysteine rich hydrophobic domain 2 |
| Location | 4q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BTL |
| Ensembl gene | ENSG00000109220 |
| Ensembl biotype | protein_coding |
| OMIM | 604332 |
| Entrez | 26511 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron
ENST00000263921, ENST00000509678, ENST00000510894, ENST00000512964
RefSeq mRNA: 1 — MANE Select: NM_012110
NM_012110
CCDS: CCDS3493
Canonical transcript exons
ENST00000263921 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000715419 | 54048955 | 54049110 |
| ENSE00000877906 | 54064182 | 54064605 |
| ENSE00001122093 | 54013837 | 54013896 |
| ENSE00001126708 | 54009789 | 54010145 |
| ENSE00001607014 | 54014063 | 54014119 |
| ENSE00003502630 | 54049251 | 54049305 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 93.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.0487 / max 518.1826, expressed in 1819 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52138 | 33.1787 | 1815 |
| 52139 | 9.1722 | 1787 |
| 52136 | 4.5072 | 1230 |
| 52137 | 0.7850 | 358 |
| 52140 | 0.3336 | 145 |
| 52135 | 0.0720 | 28 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 93.41 | gold quality |
| left testis | UBERON:0004533 | 92.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.78 | gold quality |
| blood | UBERON:0000178 | 92.55 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.32 | gold quality |
| testis | UBERON:0000473 | 91.73 | gold quality |
| adult organism | UBERON:0007023 | 91.63 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.39 | gold quality |
| cartilage tissue | UBERON:0002418 | 91.37 | gold quality |
| monocyte | CL:0000576 | 90.79 | gold quality |
| bone marrow | UBERON:0002371 | 90.78 | gold quality |
| mononuclear cell | CL:0000842 | 90.56 | gold quality |
| right lung | UBERON:0002167 | 90.51 | gold quality |
| leukocyte | CL:0000738 | 90.50 | gold quality |
| thymus | UBERON:0002370 | 90.37 | gold quality |
| skin of leg | UBERON:0001511 | 90.21 | gold quality |
| decidua | UBERON:0002450 | 90.21 | gold quality |
| upper leg skin | UBERON:0004262 | 90.12 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.83 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.62 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.48 | gold quality |
| zone of skin | UBERON:0000014 | 89.45 | gold quality |
| corpus epididymis | UBERON:0004359 | 89.21 | gold quality |
| oral cavity | UBERON:0000167 | 88.82 | gold quality |
| caput epididymis | UBERON:0004358 | 88.79 | gold quality |
| bronchial epithelial cell | CL:0002328 | 88.75 | gold quality |
| penis | UBERON:0000989 | 88.63 | gold quality |
| upper arm skin | UBERON:0004263 | 88.23 | gold quality |
| jejunal mucosa | UBERON:0000399 | 88.20 | gold quality |
| tendon | UBERON:0000043 | 88.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
73 targeting CHIC2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
Literature-anchored findings (GeneRIF, showing 2)
- used fluorescence in situ hybridization to detect deletion of the CHIC2 locus at 4q12 as a surrogate for the FIP1L1-PDGFRA fusion and was observed in bone marrow cells for 3 of 5 patients with systemic mast cell disease associated with eosinophilia (PMID:12842979)
- studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated with eosinophilia (PMID:19118897)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chic2 | ENSDARG00000022690 |
| mus_musculus | Chic2 | ENSMUSG00000029229 |
| rattus_norvegicus | Chic2 | ENSRNOG00000002267 |
| drosophila_melanogaster | CG5938 | FBGN0046247 |
| caenorhabditis_elegans | WBGENE00044319 |
Paralogs (1): CHIC1 (ENSG00000204116)
Protein
Protein identifiers
Cysteine-rich hydrophobic domain-containing protein 2 — Q9UKJ5 (reviewed: Q9UKJ5)
Alternative names: BrX-like translocated in leukemia
All UniProt accessions (3): Q9UKJ5, D6RDW7, H0Y8H1
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cell membrane. Cytoplasmic vesicle.
Post-translational modifications. Palmitoylation in the CHIC motif is required for membrane association.
Disease relevance. A chromosomal aberration involving CHIC2 is found in a form of acute myeloid leukemia (AML). Translocation t(4;12)(q12;p13) with ETV6.
Similarity. Belongs to the CHIC family.
RefSeq proteins (1): NP_036242* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019383 | Golgin_A_7/ERF4 | Domain |
| IPR039735 | CHIC1/2 | Family |
Pfam: PF10256
UniProt features (5 total): chain 1, coiled-coil region 1, short sequence motif 1, site 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8SUV | X-RAY DIFFRACTION | 1.63 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKJ5-F1 | 84.67 | 0.50 |
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): 111–112 (breakpoint for translocation to form chic2-etv6 in aml)
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 88–95 | loss of palmitoylation. abolishes membrane association. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 173 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_BCELL_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, GTGCCTT_MIR506, GROSS_HYPOXIA_VIA_ELK3_DN, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, GOCC_GOLGI_ASSOCIATED_VESICLE, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, MAF_Q6, RYTTCCTG_ETS2_B, CREBP1_01, VANTVEER_BREAST_CANCER_ESR1_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, WGGAATGY_TEF1_Q6, E4BP4_01
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): Golgi apparatus (GO:0005794), Golgi-associated vesicle (GO:0005798), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| binding | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasmic vesicle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
436 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHIC2 | ETV6 | P41212 | 852 |
| CHIC2 | FIP1L1 | Q6UN15 | 766 |
| CHIC2 | PDGFRA | P16234 | 572 |
| CHIC2 | LGALS4 | P56470 | 507 |
| CHIC2 | GSX2 | Q9BZM3 | 425 |
| CHIC2 | FGF10 | O15520 | 410 |
| CHIC2 | LNX1 | Q8TBB1 | 409 |
| CHIC2 | PDGFRB | P09619 | 398 |
| CHIC2 | FGF5 | P12034 | 377 |
| CHIC2 | FGF9 | P31371 | 377 |
| CHIC2 | FGF7 | P21781 | 371 |
| CHIC2 | FGF8 | P55075 | 369 |
| CHIC2 | SCFD2 | Q8WU76 | 367 |
| CHIC2 | FGFR1 | P11362 | 356 |
| CHIC2 | FGF18 | O76093 | 355 |
| CHIC2 | FGF3 | P11487 | 355 |
IntAct
210 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CHIC2 | CDR2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CDR2 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CHIC2 | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP10-8 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CHIC2 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KRTAP5-9 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOXA1 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CATSPER1 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| OTX1 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| UBE2N | UBA1 | psi-mi:“MI:0914”(association) | 0.640 |
| CHIC2 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| MEOX2 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| TCF4 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-9 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLJ13057 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHIC2 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBY2 | CHIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHIC2 | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CHIC2 | KRTAP4-2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (99): CHIC2 (Two-hybrid), CHIC2 (Two-hybrid), CHIC2 (Two-hybrid), CHIC2 (Two-hybrid), CHIC2 (Two-hybrid), GMCL1 (Two-hybrid), CEP44 (Two-hybrid), KRTAP4-2 (Two-hybrid), KRT40 (Two-hybrid), SPERT (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid)
ESM2 similar proteins: A0A8I6A2H6, A2A7Q9, A7E2I7, F1M8G0, O08873, O14795, P17863, P49140, P49805, P54368, P55814, Q05DH4, Q08B84, Q2M146, Q3C2P8, Q49LS4, Q4KUS2, Q505K2, Q5GH67, Q5GH76, Q5RDN2, Q5RH73, Q5TF58, Q5VXU3, Q5ZKN3, Q62739, Q62768, Q62769, Q66JG9, Q68FE7, Q6NRE7, Q6NYK3, Q7Z698, Q86XE3, Q8CB19, Q8CBW7, Q8CDD8, Q8IW70, Q8R2V2, Q8WXG6
Diamond homologs: Q5VXU3, Q8CBW7, Q9D9G3, Q9UKJ5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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 |
|---|---|---|---|
| Keratinization | 19 | 25.8× | 6e-21 |
| Formation of the cornified envelope | 9 | 19.3× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| keratinization | 9 | 42.1× | 2e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 11 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1536 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:54013894:CAG:C | acceptor_gain | 1.0000 |
| 4:54014058:CTCA:C | donor_loss | 1.0000 |
| 4:54014059:TCACC:T | donor_loss | 1.0000 |
| 4:54014060:CAC:C | donor_loss | 1.0000 |
| 4:54014061:ACC:A | donor_loss | 1.0000 |
| 4:54014120:C:CC | acceptor_gain | 1.0000 |
| 4:54020495:A:AG | acceptor_gain | 1.0000 |
| 4:54020495:ACT:A | acceptor_gain | 1.0000 |
| 4:54020496:C:G | acceptor_gain | 1.0000 |
| 4:54048947:CAACT:C | donor_loss | 1.0000 |
| 4:54048948:AACTT:A | donor_loss | 1.0000 |
| 4:54048949:ACTTA:A | donor_loss | 1.0000 |
| 4:54048950:CTTAC:C | donor_loss | 1.0000 |
| 4:54048951:TTACT:T | donor_loss | 1.0000 |
| 4:54048952:TACT:T | donor_loss | 1.0000 |
| 4:54048953:A:AC | donor_gain | 1.0000 |
| 4:54048953:ACT:A | donor_gain | 1.0000 |
| 4:54048953:ACTCT:A | donor_loss | 1.0000 |
| 4:54048954:C:CT | donor_gain | 1.0000 |
| 4:54048954:CT:C | donor_gain | 1.0000 |
| 4:54048954:CTC:C | donor_gain | 1.0000 |
| 4:54048954:CTCT:C | donor_gain | 1.0000 |
| 4:54049106:GCTAC:G | acceptor_loss | 1.0000 |
| 4:54049107:CTAC:C | acceptor_gain | 1.0000 |
| 4:54049108:TAC:T | acceptor_gain | 1.0000 |
| 4:54049109:ACC:A | acceptor_loss | 1.0000 |
| 4:54049111:CTAA:C | acceptor_loss | 1.0000 |
| 4:54049112:T:A | acceptor_loss | 1.0000 |
| 4:54049243:ACACT:A | donor_loss | 1.0000 |
| 4:54049244:CACT:C | donor_loss | 1.0000 |
AlphaMissense
1086 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:54013884:A:G | W134R | 1.000 |
| 4:54013884:A:T | W134R | 1.000 |
| 4:54013889:A:G | L132S | 1.000 |
| 4:54048985:A:C | S100R | 1.000 |
| 4:54048985:A:T | S100R | 1.000 |
| 4:54048987:T:G | S100R | 1.000 |
| 4:54049011:A:G | C92R | 1.000 |
| 4:54049019:C:T | G89D | 1.000 |
| 4:54049020:C:G | G89R | 1.000 |
| 4:54049032:A:G | W85R | 1.000 |
| 4:54049032:A:T | W85R | 1.000 |
| 4:54049061:A:G | L75P | 1.000 |
| 4:54049073:A:T | V71D | 1.000 |
| 4:54049084:G:C | S67R | 1.000 |
| 4:54049084:G:T | S67R | 1.000 |
| 4:54049086:T:G | S67R | 1.000 |
| 4:54049094:A:G | F64S | 1.000 |
| 4:54049261:A:G | L55S | 1.000 |
| 4:54049285:A:G | F47S | 1.000 |
| 4:54049297:A:G | L43P | 1.000 |
| 4:54049300:C:T | G42E | 1.000 |
| 4:54013895:A:G | L130P | 0.999 |
| 4:54014071:A:C | Y127D | 0.999 |
| 4:54014081:G:C | N123K | 0.999 |
| 4:54014081:G:T | N123K | 0.999 |
| 4:54014082:T:A | N123I | 0.999 |
| 4:54014094:A:G | L119S | 0.999 |
| 4:54048977:G:C | P103R | 0.999 |
| 4:54048977:G:T | P103Q | 0.999 |
| 4:54048981:A:G | W102R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000036635 (4:54020577 C>A), RS1000049899 (4:54059456 C>G,T), RS1000055839 (4:54014848 T>A), RS1000079231 (4:54059789 C>A), RS1000112420 (4:54083747 G>C), RS1000140375 (4:54029138 A>C,G), RS1000149790 (4:54026239 GT>G,GTT), RS1000183977 (4:54021331 A>G), RS10002384 (4:54060870 T>G), RS1000282390 (4:54065760 A>G), RS1000292363 (4:54059676 A>G), RS1000342960 (4:54078583 T>G), RS1000368211 (4:54088026 A>G), RS1000370706 (4:54014301 A>C,T), RS1000396263 (4:54052869 A>G)
Disease associations
OMIM: gene MIM:604332 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| acute myeloid leukemia | No Known Disease Relationship | Unknown |
Mondo (1): acute myeloid leukemia (MONDO:0018874)
Orphanet (0):
HPO phenotypes
3 total (3 of 3 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0004808 | Acute myeloid leukemia |
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001235_2 | Blood pressure | 1.000000e-08 |
| GCST003264_80 | Post bronchodilator FEV1/FVC ratio | 2.000000e-06 |
| GCST004775_19 | Pulse pressure | 2.000000e-10 |
| GCST007705_74 | Pulse pressure | 5.000000e-16 |
| GCST007705_76 | Pulse pressure | 7.000000e-13 |
| GCST009240_402 | Serum metabolite levels (CMS) | 2.000000e-10 |
| GCST009391_1161 | Metabolite levels | 2.000000e-06 |
| GCST009391_888 | Metabolite levels | 9.000000e-06 |
| GCST010699_1 | Brain morphology (min-P) | 3.000000e-11 |
| GCST010701_128 | Cortical surface area (MOSTest) | 2.000000e-10 |
| GCST010702_22 | Subcortical volume (MOSTest) | 5.000000e-50 |
| GCST010703_288 | Brain morphology (MOSTest) | 5.000000e-15 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0010460 | anthranilic acid measurement |
| EFO:0010439 | triacylglycerol 58:12 measurement |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D015470 | Leukemia, Myeloid, Acute | C04.557.337.539.275; C15.378.508.539.275 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs871606 | CHIC2 | 0.00 | 0 |
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, increases expression, decreases expression | 3 |
| Cyclosporine | increases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Arsenic | decreases ubiquitination | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Copper | affects binding, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00199147 | PHASE4 | UNKNOWN | Efficacy of G-CSF-Priming in Elderly AML Patients |
| NCT00304447 | PHASE4 | COMPLETED | Study Evaluating the Effect of Corticosteroids on Mylotarg® Infusion-Related Adverse Events in Patients With Leukemia |
| NCT00464217 | PHASE4 | COMPLETED | Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years |
| NCT00487448 | PHASE4 | COMPLETED | SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia |
| NCT00488709 | PHASE4 | COMPLETED | Fludarabine, Cytarabine, Topotecan in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia |
| NCT00686543 | PHASE4 | COMPLETED | Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115) |
| NCT01041040 | PHASE4 | COMPLETED | LAM07: Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML) |
| NCT01198054 | PHASE4 | TERMINATED | LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML) |
| NCT01200355 | PHASE4 | COMPLETED | Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome |
| NCT01347996 | PHASE4 | COMPLETED | Maintenance Therapy With Ceplene® (Histamine) and IL-2 on Immune Response and MRD in Acute Myeloid Leukemia |
| NCT01587430 | PHASE4 | UNKNOWN | 3 Anthracyclines, 2 Types of Consolidation With Different ARA-C Doses and Maintenance in Adult Acute Myeloid Leukemia |
| NCT01819792 | PHASE4 | COMPLETED | Respiratory Viral Infections During Acute Myeloid Leukemia (AML)Chemotherapy Related Aplasia |
| NCT02024308 | PHASE4 | UNKNOWN | AML1-ETO Acute Myeloid Leukemia With Fludarabine and Cytarabine Chemotherapy |
| NCT02027064 | PHASE4 | UNKNOWN | Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT |
| NCT02277847 | PHASE4 | UNKNOWN | Idarubicin at Different Dosages as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia |
| NCT02386800 | PHASE4 | ACTIVE_NOT_RECRUITING | CINC424A2X01B Rollover Protocol |
| NCT02926586 | PHASE4 | COMPLETED | Fludarabine and Cytarabine Versus High-dose Cytarabine for CBF-AML |
| NCT02933333 | PHASE4 | UNKNOWN | G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor |
| NCT03026842 | PHASE4 | UNKNOWN | Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Acute Myeloid Leukemia With t(8;21) |
| NCT03150134 | PHASE4 | UNKNOWN | Early Tapering of Immunosuppressive Agents to Immunomodulation to Improve Survival of AML Patients |
| NCT05144243 | PHASE4 | ACTIVE_NOT_RECRUITING | Study to Assess Adverse Events and Change in Disease State of Oral Venetoclax in Combination With Subcutaneous (SC) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy in China |
| NCT06370000 | PHASE4 | RECRUITING | Oral Azacitidine in Transplant-Eligible Patients With Acute Myeloid Leukemia (AML) Suffering From Health-Inequality |
| NCT06571825 | PHASE4 | RECRUITING | RIC Allo-HSCT vs. Venetoclax-Based Consolidation in Elderly AML Patients After First CR |
| NCT07016165 | PHASE4 | RECRUITING | Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies |
| NCT07044687 | PHASE4 | RECRUITING | Study to Assess Adverse Events and Change in Disease Activity of Oral Venetoclax in Combination With Subcutaneous (SC) or Intravenous (IV) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Standard Induction Therapy in India |
| NCT07486713 | PHASE4 | RECRUITING | Olutasidenib DDI Study in Patients With IDH1 Mutation Positive Malignancies |
| NCT07561892 | PHASE4 | RECRUITING | Study of the Effectiveness and Safety of Daunorubicin /Idarubicin ± Silibinin in Treating Newly Diagnosed AML (Non-M3). |
| NCT00000589 | PHASE3 | COMPLETED | Trial to Reduce Alloimmunization to Platelets (TRAP) |
| NCT00044486 | PHASE3 | COMPLETED | Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899) |
| NCT00093990 | PHASE3 | COMPLETED | Tipifarnib Versus Best Supportive Care in the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML) |
| NCT00125606 | PHASE3 | TERMINATED | Phase 3 Trial for AML Patients in CR2 Comparing 8Gy TBI /Fludarabine to Conditioning With TBI 12Gy/Cyclophosphamide |
| NCT00136084 | PHASE3 | COMPLETED | Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia |
| NCT00146120 | PHASE3 | COMPLETED | Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result |
| NCT00150878 | PHASE3 | TERMINATED | Standard vs. Reduced-Intensity Conditioning in Patients With Acute Myeloid Leukemia in First Remission |
| NCT00151255 | PHASE3 | COMPLETED | All-Trans Retinoic Acid in Combination With Standard Induction and Consolidation Therapy in Older Patients With Newly Diagnosed Acute Myeloid Leukemia |
| NCT00152139 | PHASE3 | COMPLETED | Stem Cell Transplantation for Patients With Hematologic Malignancies |
| NCT00152594 | PHASE3 | TERMINATED | Voriconazole or Placebo in the Prophylaxis of Lung Infiltrates in Patients Undergoing Induction Chemotherapy for Acute Myelogenous Leukemia |
| NCT00186966 | PHASE3 | COMPLETED | Treatment of Children and Adolescents With Refractory or Relapsed Acute Myeloid Leukemia |
| NCT00226512 | PHASE3 | WITHDRAWN | To Determine the Role of Adding Campath-1H or ATG Given In-vivo in Addition to Fludarabine and Low Dose Busulfex on Outcome in Patients Treated With Reduced Intensity Conditioning |
| NCT00260832 | PHASE3 | COMPLETED | Trial of Decitabine in Patients With Acute Myeloid Leukemia |
Related Atlas pages
- Associated diseases: acute myeloid leukemia by FAB classification
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acute myeloid leukemia