CD99L2
geneOn this page
Also known as CD99B
Summary
CD99L2 (CD99 molecule like 2, HGNC:18237) is a protein-coding gene on chromosome Xq28, encoding CD99 antigen-like protein 2 (Q8TCZ2). Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane.
This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 83692 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 134 total — 2 pathogenic
- MANE Select transcript:
NM_031462
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18237 |
| Approved symbol | CD99L2 |
| Name | CD99 molecule like 2 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CD99B |
| Ensembl gene | ENSG00000102181 |
| Ensembl biotype | protein_coding |
| OMIM | 300846 |
| Entrez | 83692 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 21 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000346693, ENST00000355149, ENST00000370377, ENST00000418547, ENST00000437787, ENST00000466436, ENST00000491877, ENST00000634795, ENST00000881084, ENST00000881086, ENST00000881089, ENST00000881090, ENST00000881091, ENST00000881092, ENST00000954707, ENST00000954708, ENST00000954709, ENST00000954710, ENST00000954711, ENST00000954712, ENST00000954713, ENST00000954714, ENST00000954715
RefSeq mRNA: 5 — MANE Select: NM_031462
NM_001184808, NM_001242614, NM_031462, NM_134445, NM_134446
CCDS: CCDS14697, CCDS14698, CCDS35427, CCDS55527
Canonical transcript exons
ENST00000370377 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001261819 | 150898522 | 150898668 |
| ENSE00001754630 | 150777444 | 150777482 |
| ENSE00003466725 | 150795418 | 150795486 |
| ENSE00003533345 | 150814862 | 150814936 |
| ENSE00003547583 | 150793691 | 150793756 |
| ENSE00003572850 | 150776174 | 150776293 |
| ENSE00003594849 | 150816007 | 150816078 |
| ENSE00003597636 | 150795206 | 150795289 |
| ENSE00003608834 | 150770304 | 150770369 |
| ENSE00003681174 | 150766336 | 150769101 |
| ENSE00003682869 | 150831231 | 150831293 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 97.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.2702 / max 387.5476, expressed in 1817 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 200830 | 41.9551 | 1816 |
| 200831 | 2.0763 | 975 |
| 200833 | 0.5940 | 259 |
| 200832 | 0.3196 | 137 |
| 200828 | 0.2094 | 65 |
| 200834 | 0.1159 | 49 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 97.53 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.45 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.15 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.11 | gold quality |
| muscle of leg | UBERON:0001383 | 97.08 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.01 | gold quality |
| frontal cortex | UBERON:0001870 | 96.58 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.57 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.37 | gold quality |
| hypothalamus | UBERON:0001898 | 96.24 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.22 | gold quality |
| spinal cord | UBERON:0002240 | 96.09 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.09 | gold quality |
| neocortex | UBERON:0001950 | 96.04 | gold quality |
| pons | UBERON:0000988 | 95.99 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.81 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.72 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.63 | gold quality |
| tibial nerve | UBERON:0001323 | 95.52 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.30 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.29 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.27 | gold quality |
| putamen | UBERON:0001874 | 95.18 | gold quality |
| apex of heart | UBERON:0002098 | 95.16 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.13 | gold quality |
| substantia nigra | UBERON:0002038 | 95.13 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.12 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.12 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.10 | gold quality |
| cerebellum | UBERON:0002037 | 94.93 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 28.39 |
| E-ENAD-27 | yes | 7.81 |
| E-GEOD-81608 | no | 344.90 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting CD99L2, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-593-5P | 99.34 | 69.50 | 965 |
| HSA-MIR-6128 | 99.33 | 67.83 | 1581 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-7851-3P | 98.72 | 64.88 | 980 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
Literature-anchored findings (GeneRIF, showing 2)
- This study identified predicted pathogenic, hemizygous variants on chromosome X in disease genes CD99L2. (PMID:25666757)
- Human CD99L2 Regulates a Unique Step in Leukocyte Transmigration. (PMID:35914838)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cd99l2 | ENSDARG00000056722 |
| mus_musculus | Cd99l2 | ENSMUSG00000035776 |
| rattus_norvegicus | ENSRNOG00000088438 | |
| rattus_norvegicus | Cd99l2 | ENSRNOG00000089435 |
Paralogs (1): CD99 (ENSG00000002586)
Protein
Protein identifiers
CD99 antigen-like protein 2 — Q8TCZ2 (reviewed: Q8TCZ2)
Alternative names: MIC2-like protein 1
All UniProt accessions (5): Q8TCZ2, A0A024RC16, A0A0S2Z5R8, A0A0U1RQT8, H0Y4H3
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1. Homophilic adhesion molecule, but these interactions may not be required for cell aggregation.
Subcellular location. Cell membrane. Cell junction. Secreted.
Tissue specificity. Detected in cerebrospinal fluid (at protein level). Expressed in many tissues, with low expression in thymus.
Post-translational modifications. O-glycosylated.
Similarity. Belongs to the CD99 family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TCZ2-1 | 1 | yes |
| Q8TCZ2-2 | 2 | |
| Q8TCZ2-3 | 3 | |
| Q8TCZ2-4 | 4 | |
| Q8TCZ2-5 | 5 | |
| Q8TCZ2-6 | 6 |
RefSeq proteins (5): NP_001171737, NP_001229543, NP_113650, NP_604394, NP_604395 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR022078 | CD99L2 | Family |
Pfam: PF12301
UniProt features (24 total): splice variant 8, sequence conflict 5, compositionally biased region 4, topological domain 2, signal peptide 1, chain 1, glycosylation site 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TCZ2-F1 | 55.71 | 0.00 |
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 (1): 178
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-109582 | Hemostasis |
MSigDB gene sets: 155 (showing top):
GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_EXTRAVASATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOCC_CELL_SURFACE, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_NEUTROPHIL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION, HEN1_01, GOBP_GRANULOCYTE_MIGRATION, GOBP_REGULATION_OF_CELLULAR_EXTRAVASATION
GO Biological Process (4): cell adhesion (GO:0007155), diapedesis (GO:0050904), positive regulation of neutrophil extravasation (GO:2000391), positive regulation of T cell extravasation (GO:2000409)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), plasma membrane (GO:0005886), adherens junction (GO:0005912), focal adhesion (GO:0005925), cell surface (GO:0009986), membrane (GO:0016020), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Hemostasis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| positive regulation of cellular extravasation | 2 |
| cellular process | 1 |
| cellular extravasation | 1 |
| leukocyte migration | 1 |
| neutrophil extravasation | 1 |
| positive regulation of neutrophil migration | 1 |
| regulation of neutrophil extravasation | 1 |
| T cell extravasation | 1 |
| positive regulation of T cell migration | 1 |
| regulation of T cell extravasation | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| cell-substrate junction | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1124 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD99L2 | PILRA | Q9UKJ1 | 968 |
| CD99L2 | PILRB | Q9UKJ0 | 936 |
| CD99L2 | CD99 | P14209 | 849 |
| CD99L2 | CD34 | P28906 | 840 |
| CD99L2 | EWSR1 | Q01844 | 825 |
| CD99L2 | SYP | P08247 | 791 |
| CD99L2 | PECAM1 | P16284 | 775 |
| CD99L2 | ENO2 | P09104 | 773 |
| CD99L2 | PTPRC | P08575 | 726 |
| CD99L2 | KIT | P10721 | 720 |
| CD99L2 | BCL2 | P10415 | 720 |
| CD99L2 | MME | P08473 | 720 |
| CD99L2 | NCAM1 | P13591 | 720 |
| CD99L2 | SPN | P16150 | 719 |
| CD99L2 | MYOG | P15173 | 713 |
| CD99L2 | CALB2 | P22676 | 713 |
IntAct
65 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAPN1 | CAPNS1 | psi-mi:“MI:0914”(association) | 0.840 |
| CD99L2 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| UBQLN1 | CD99L2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CD99L2 | SGTA | psi-mi:“MI:0915”(physical association) | 0.720 |
| SGTA | CD99L2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TMBIM6 | CD99L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAM1L1 | CD99L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC30A8 | CD99L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD99L2 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD99L2 | SGTB | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (52): CD99L2 (Two-hybrid), CD99L2 (Proximity Label-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS), CD99L2 (Affinity Capture-MS)
ESM2 similar proteins: A1A4K1, B1H3G4, E9PV24, O35988, O61704, O75167, O93383, P14209, P14599, P15514, P24338, P31431, P31955, P34741, P34900, P34901, P43322, P43407, P49414, P49416, P50605, P55808, P58239, Q02297, Q0VFF9, Q1RMT9, Q27913, Q56A20, Q58DD4, Q5RAT9, Q5RCS3, Q5RE35, Q5REP3, Q5XG99, Q6DBW9, Q6GR51, Q6PKG0, Q6ZQ58, Q7SXB3, Q7TMJ8
Diamond homologs: A1A4K1, B1H3G4, P14209, Q5RE35, Q6DBW9, Q8BIF0, Q8R1R5, Q8TCZ2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 36 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of macroautophagy | 5 | 43.5× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
134 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2685725 | GRCh37/hg19 Xq28(chrX:149650839-149937387)x1 | Pathogenic |
| 4076026 | GRCh37/hg19 Xq28(chrX:149348005-150139922)x0 | Pathogenic |
SpliceAI
2417 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:150770365:ACCCT:A | acceptor_gain | 1.0000 |
| X:150770366:CCCT:C | acceptor_gain | 1.0000 |
| X:150770366:CCCTC:C | acceptor_gain | 1.0000 |
| X:150770367:CCTC:C | acceptor_gain | 1.0000 |
| X:150770368:CT:C | acceptor_gain | 1.0000 |
| X:150770368:CTCTG:C | acceptor_loss | 1.0000 |
| X:150770370:C:CC | acceptor_gain | 1.0000 |
| X:150770371:T:A | acceptor_loss | 1.0000 |
| X:150776166:GCACT:G | donor_loss | 1.0000 |
| X:150776169:CTTAC:C | donor_loss | 1.0000 |
| X:150776170:T:TC | donor_loss | 1.0000 |
| X:150776171:T:TG | donor_loss | 1.0000 |
| X:150776172:A:AC | donor_gain | 1.0000 |
| X:150776172:A:AT | donor_loss | 1.0000 |
| X:150776172:ACG:A | donor_gain | 1.0000 |
| X:150776173:C:CG | donor_gain | 1.0000 |
| X:150776173:CG:C | donor_gain | 1.0000 |
| X:150776173:CGC:C | donor_gain | 1.0000 |
| X:150776173:CGCTG:C | donor_gain | 1.0000 |
| X:150776289:CATGC:C | acceptor_gain | 1.0000 |
| X:150776290:ATGC:A | acceptor_gain | 1.0000 |
| X:150776291:TGC:T | acceptor_gain | 1.0000 |
| X:150776292:GC:G | acceptor_gain | 1.0000 |
| X:150776293:CC:C | acceptor_gain | 1.0000 |
| X:150776293:CCTG:C | acceptor_loss | 1.0000 |
| X:150776294:C:CA | acceptor_loss | 1.0000 |
| X:150776294:C:CC | acceptor_gain | 1.0000 |
| X:150776298:G:C | acceptor_gain | 1.0000 |
| X:150776298:G:GC | acceptor_gain | 1.0000 |
| X:150795201:CTCA:C | donor_loss | 1.0000 |
AlphaMissense
1698 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:150776253:G:C | S192R | 0.998 |
| X:150776253:G:T | S192R | 0.998 |
| X:150776255:T:G | S192R | 0.998 |
| X:150776217:G:C | S204R | 0.997 |
| X:150776217:G:T | S204R | 0.997 |
| X:150776219:T:G | S204R | 0.997 |
| X:150776230:C:T | G200D | 0.995 |
| X:150776227:G:T | A201D | 0.994 |
| X:150776239:G:T | A197D | 0.994 |
| X:150776242:A:T | M196K | 0.994 |
| X:150776184:G:C | F215L | 0.993 |
| X:150776184:G:T | F215L | 0.993 |
| X:150776186:A:G | F215L | 0.993 |
| X:150776242:A:C | M196R | 0.993 |
| X:150776245:G:T | A195D | 0.993 |
| X:150776251:G:T | A193D | 0.992 |
| X:150776224:A:T | V202D | 0.991 |
| X:150776216:A:C | Y205D | 0.989 |
| X:150776236:A:T | L198H | 0.989 |
| X:150776228:C:G | A201P | 0.988 |
| X:150776231:C:G | G200R | 0.986 |
| X:150776257:G:T | A191D | 0.986 |
| X:150776188:C:T | C214Y | 0.985 |
| X:150776266:G:T | A188D | 0.983 |
| X:150776236:A:G | L198P | 0.982 |
| X:150776189:A:G | C214R | 0.980 |
| X:150776233:A:T | I199N | 0.979 |
| X:150776236:A:C | L198R | 0.979 |
| X:150776188:C:G | C214S | 0.978 |
| X:150776189:A:T | C214S | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000004106 (X:150878712 T>C,G), RS1000022512 (X:150781463 G>A), RS1000182860 (X:150832459 A>G), RS1000296065 (X:150845741 A>C), RS1000300751 (X:150770767 T>C), RS1000412242 (X:150895534 G>A), RS1000417005 (X:150818793 G>A), RS1000597803 (X:150843239 A>G), RS1000630431 (X:150843577 G>A), RS1000701679 (X:150785105 C>G,T), RS1000736911 (X:150893399 T>C), RS1000745109 (X:150893732 T>C), RS1000783323 (X:150834170 A>C), RS1000790321 (X:150776346 C>G,T), RS1000849360 (X:150836211 G>A)
Disease associations
OMIM: gene MIM:300846 | disease phenotypes: MIM:310400, MIM:310440, MIM:147421
GenCC curated gene-disease
Mondo (4): X-linked myotubular myopathy (MONDO:0010683), X-linked myopathy with excessive autophagy (MONDO:0010684), inclusion body myositis (MONDO:0007827), neurodevelopmental disorder (MONDO:0700092)
Orphanet (3): X-linked myopathy with excessive autophagy (Orphanet:25980), X-linked centronuclear myopathy (Orphanet:596), Inclusion body myositis (Orphanet:611)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018979 | Myositis, Inclusion Body | C05.651.594.600; C10.668.491.562.500 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
| C536522 | Vacuolar myopathy (supp.) |
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 |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Valproic Acid | affects cotreatment, decreases expression, increases methylation | 4 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases expression, increases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression, affects cotreatment | 1 |
Clinical trials (associated diseases)
284 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT07240649 | PHASE4 | NOT_YET_RECRUITING | Outcomes From Hyperbaric Oxygen (HBO2) Treatment for Emerging Indications |
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02573467 | PHASE3 | COMPLETED | An Extension Study of the Efficacy, Safety and Tolerability of BYM338 (Bimagrumab) in Patients With Sporadic Inclusion Body Myositis Who Previously Participated in the Core Study CBYM338B2203 |
| NCT04049097 | PHASE3 | TERMINATED | Arimoclomol in Sporadic Inclusion Body Myositis - Open Label Extension Trial |
| NCT04789070 | PHASE3 | ACTIVE_NOT_RECRUITING | Phase III Trial of Sirolimus in IBM |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT00001261 | PHASE2 | COMPLETED | Intravenousimmunoglobulin (IVIg) for the Treatment of Inflammatory Myopathies |
| NCT01423110 | PHASE2 | COMPLETED | Efficacy, Safety and Tolerability of BYM338 in Patients With Sporadic Inclusion Body Myositis |
| NCT02753530 | PHASE2 | COMPLETED | Study of Arimoclomol in Inclusion Body Myositis (IBM) |
| NCT03710941 | PHASE2 | WITHDRAWN | Safety and Efficacy of REGN2477+REGN1033 in Patients With Sporadic Inclusion Body Myositis |
| NCT04062019 | PHASE2 | UNKNOWN | Low-dose Interleukin-2 Treatment on Idiopathic Inflammatory Myopathy |
| NCT04237987 | PHASE2 | UNKNOWN | Low-dose Interleukin-2 in Combination With Standard Therapy on Idiopathic Inflammatory Myopathy |
| NCT04687111 | PHASE2 | UNKNOWN | Personalised Prospective Comparison of ARni With ArB in Patients With Natriuretic Peptide eLEvation |
| NCT06794008 | PHASE2 | RECRUITING | BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT01519349 | PHASE1 | COMPLETED | Follistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis |
| NCT02483845 | PHASE1 | UNKNOWN | Natalizumab in Inclusion Body Myositis (IBM) |
| NCT03440034 | PHASE1 | COMPLETED | Study of Pioglitazone in Sporadic Inclusion Body Myositis |
| NCT04421677 | PHASE1 | COMPLETED | Safety and Tolerability of Phenylbutyrate in Inclusion Body Myositis |
| NCT04659031 | PHASE1 | COMPLETED | A Phase 1 Study of ABC008 in Ascending (Single Ascending Dose/Multiple Ascending Dose) Study in Patients With (IBM) |
| NCT05032131 | PHASE1 | UNKNOWN | Cell Therapy for IBM by Muscle Injection of ADSVF |
| NCT06524687 | PHASE1 | TERMINATED | A Study of Imvotamab in Active, Refractory Idiopathic Inflammatory Myopathies |
| NCT06941129 | PHASE1 | RECRUITING | CAR T-cell Therapy Targeting CD19 and BCMA in Patients With Relapse/Refractory Autoimmune Diseases |
| NCT06978647 | PHASE1 | RECRUITING | A Clinical Study of YTS109 Cell in R/R Autoimmune Diseases |
| NCT06978738 | PHASE1 | NOT_YET_RECRUITING | UCAR T-cell Therapy Targeting CD19/ BCMA in Patients With Relapse/ Refractory Autoimmune Diseases |
| NCT07104721 | PHASE1 | RECRUITING | A Clinical Study of YTS109 Cell for R/R Autoimmune Diseases |
| NCT07123519 | PHASE1 | RECRUITING | A Clinical Study of YTS109 Cells for the Treatment of R/R Autoimmune Diseases |
| NCT07236762 | PHASE1 | RECRUITING | An Exploratory Clinical Study of YTS109 Cell for R/R Autoimmune Diseases |
| NCT07236801 | PHASE1 | RECRUITING | Exploratory Clinical Study on YTS109 Cell Therapy for Autoimmune Diseases |
| NCT07413341 | PHASE1 | RECRUITING | A Clinical Study of TI-0032-III Injection in Patients With Relapsed and Refractory Autoimmune Diseases |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT03199469 | PHASE2/PHASE3 | ACTIVE_NOT_RECRUITING | A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM) |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): inclusion body myositis, X-linked myopathy with excessive autophagy, X-linked myotubular myopathy