CDC42SE2
gene geneOn this page
Also known as FLJ21967SPEC2
Summary
CDC42SE2 (CDC42 small effector 2, HGNC:18547) is a protein-coding gene on chromosome 5q31.1, encoding CDC42 small effector protein 2 (Q9NRR3). Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly.
Enables signaling adaptor activity. Involved in regulation of signal transduction. Located in plasma membrane.
Source: NCBI Gene 56990 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 18 total
- MANE Select transcript:
NM_001375635
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18547 |
| Approved symbol | CDC42SE2 |
| Name | CDC42 small effector 2 |
| Location | 5q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21967, SPEC2 |
| Ensembl gene | ENSG00000158985 |
| Ensembl biotype | protein_coding |
| OMIM | 619457 |
| Entrez | 56990 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 7 protein_coding_CDS_not_defined, 6 protein_coding
ENST00000360515, ENST00000395246, ENST00000502582, ENST00000502639, ENST00000502840, ENST00000503291, ENST00000504701, ENST00000505065, ENST00000506419, ENST00000506929, ENST00000511432, ENST00000515533, ENST00000892403
RefSeq mRNA: 5 — MANE Select: NM_001375635
NM_001038702, NM_001375633, NM_001375634, NM_001375635, NM_020240
CCDS: CCDS34224
Canonical transcript exons
ENST00000505065 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001298120 | 131315976 | 131316144 |
| ENSE00001326537 | 131359209 | 131359547 |
| ENSE00002041653 | 131390993 | 131394672 |
| ENSE00002045409 | 131264053 | 131264166 |
| ENSE00003516888 | 131385543 | 131385644 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.7016 / max 2224.5546, expressed in 1818 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58399 | 49.0761 | 1813 |
| 58398 | 2.7898 | 1003 |
| 58396 | 1.1212 | 157 |
| 58414 | 0.9491 | 460 |
| 58395 | 0.9191 | 147 |
| 58411 | 0.7579 | 348 |
| 58412 | 0.5855 | 255 |
| 58413 | 0.2269 | 92 |
| 203681 | 0.1335 | 37 |
| 58397 | 0.1281 | 51 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.45 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.05 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.93 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.86 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.78 | gold quality |
| endothelial cell | CL:0000115 | 98.75 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.66 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.62 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.52 | gold quality |
| oviduct epithelium | UBERON:0004804 | 98.51 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.19 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 97.84 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.82 | gold quality |
| parietal lobe | UBERON:0001872 | 97.71 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 97.66 | gold quality |
| globus pallidus | UBERON:0001875 | 97.52 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.52 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.49 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.49 | gold quality |
| caput epididymis | UBERON:0004358 | 97.48 | gold quality |
| upper arm skin | UBERON:0004263 | 97.47 | gold quality |
| parotid gland | UBERON:0001831 | 97.35 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.33 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.32 | gold quality |
| bone marrow | UBERON:0002371 | 97.22 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.16 | gold quality |
| lymph node | UBERON:0000029 | 97.15 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.08 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.06 | gold quality |
| pons | UBERON:0000988 | 97.02 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 36.95 |
| E-GEOD-135922 | yes | 32.69 |
| E-ANND-3 | yes | 23.18 |
| E-CURD-119 | yes | 4.09 |
| E-GEOD-106540 | no | 2382.11 |
| E-MTAB-7606 | no | 819.56 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PAX3
miRNA regulators (miRDB)
130 targeting CDC42SE2, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
Literature-anchored findings (GeneRIF, showing 3)
- Recruitment of SPEC2 within Jurkat T cells to the antigen-presenting cell interface occurred following incubation with staphylococcal enterotoxin E superantigen-loaded B cells and colocalized there with F-actin and Cdc42. T cell receptor (PMID:15840583)
- haplotypes underlying the SPEC2/PDZ-GEF2/acyl-CoA synthetase long-chain family member 6 region are associated with schizophrenia (PMID:17030554)
- Cdc42 is an important regulator of corneal epithelial wound repair. To promote healing, Cdc42 may interact with receptor tyrosine kinase-activated signaling cascades that participate in cell migration and cell-cycle progression. (PMID:23833064)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdc42se2 | ENSDARG00000094577 |
| mus_musculus | Cdc42se2 | ENSMUSG00000052298 |
| rattus_norvegicus | Cdc42se2 | ENSRNOG00000042449 |
Paralogs (1): CDC42SE1 (ENSG00000197622)
Protein
Protein identifiers
CDC42 small effector protein 2 — Q9NRR3 (reviewed: Q9NRR3)
Alternative names: Small effector of CDC42 protein 2
All UniProt accessions (3): Q9NRR3, D6REL0, H0Y9W5
UniProt curated annotations — full annotation on UniProt →
Function. Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages.
Subunit / interactions. Interacts with CDC42 (in GTP-bound form). Interacts weakly with RAC1 and not at all with RHOA.
Subcellular location. Cytoplasm. Cytoskeleton. Cell membrane. Cell projection. Phagocytic cup.
Tissue specificity. Widely expressed. Expressed at higher level in T-lymphocytes. Highly expressed in CCRF-CEM T-lymphocytes, Jurkat T-lymphocytes, and Raji B-lymphocytes compared (at protein level).
Domain organisation. The CRIB domain mediates interaction with CDC42.
Miscellaneous. CDC42SE2 is mapped in the genomic region associated with schizophrenia.
Similarity. Belongs to the CDC42SE/SPEC family.
RefSeq proteins (5): NP_001033791, NP_001362562, NP_001362563, NP_001362564, NP_064625 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000095 | CRIB_dom | Domain |
| IPR036936 | CRIB_dom_sf | Homologous_superfamily |
| IPR039056 | SPEC | Family |
Pfam: PF00786
UniProt features (6 total): modified residue 2, lipid moiety-binding region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRR3-F1 | 68.02 | 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.
Post-translational modifications (4): 43, 52, 10, 11
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 192 (showing top):
GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, MODULE_503, MODULE_195, GOBP_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION, MODULE_147, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, SENESE_HDAC1_TARGETS_UP, FUJII_YBX1_TARGETS_UP, YAMAZAKI_TCEB3_TARGETS_UP, GOBP_IMPORT_INTO_CELL, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_ENDOCYTOSIS
GO Biological Process (4): phagocytosis (GO:0006909), regulation of cell shape (GO:0008360), regulation of signal transduction (GO:0009966), regulation of Rho protein signal transduction (GO:0035023)
GO Molecular Function (3): small GTPase binding (GO:0031267), signaling adaptor activity (GO:0035591), protein binding (GO:0005515)
GO Cellular Component (6): phagocytic cup (GO:0001891), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| endocytosis | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| Rho protein signal transduction | 1 |
| regulation of small GTPase mediated signal transduction | 1 |
| GTPase binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| plasma membrane | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2155 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDC42SE2 | RAPGEF6 | Q8TEU7 | 638 |
| CDC42SE2 | ACSL6 | Q9UKU0 | 599 |
| CDC42SE2 | CDC42 | P21181 | 554 |
| CDC42SE2 | OR2B3 | O76000 | 507 |
| CDC42SE2 | CDR2L | Q86X02 | 476 |
| CDC42SE2 | SLC35F4 | A4IF30 | 471 |
| CDC42SE2 | CDC42EP4 | Q9H3Q1 | 450 |
| CDC42SE2 | CDC42BPB | Q9Y5S2 | 439 |
| CDC42SE2 | LYRM7 | Q5U5X0 | 437 |
| CDC42SE2 | TMEM196 | Q5HYL7 | 435 |
| CDC42SE2 | STPG3 | Q8N7X2 | 431 |
| CDC42SE2 | LMBRD2 | Q68DH5 | 410 |
| CDC42SE2 | BAIAP2L1 | Q9UHR4 | 401 |
| CDC42SE2 | KANSL1 | Q7Z3B3 | 395 |
| CDC42SE2 | CASS4 | Q9NQ75 | 387 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDC42SE2 | CDC42 | psi-mi:“MI:0914”(association) | 0.730 |
| CDC42 | BBX | psi-mi:“MI:0914”(association) | 0.350 |
| MYO19 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MAD2L2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDC42 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| CDC42SE2 | SSC5D | psi-mi:“MI:0914”(association) | 0.350 |
| TUBB | psi-mi:“MI:0914”(association) | 0.350 | |
| TUBB4B | PLD2 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS5 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2A | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | MAP2K7 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA8 | B4GALT5 | psi-mi:“MI:0914”(association) | 0.350 |
| UPK2 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC37A3 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC46A3 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (33): CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-MS), CDC42 (Affinity Capture-MS), TSC22D3 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-RNA), CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Two-hybrid), CDC42SE2 (Two-hybrid), CDC42SE2 (Affinity Capture-MS), CDC42SE2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GUI7, A1DL98, A1L1K4, A4V8B4, A6QLJ4, A6ZMG4, A6ZR60, A7NVJ4, A9JR56, B3LLZ8, C5E1C7, C7GWA2, C8ZEW0, O13916, O60153, P0C2W9, P15130, P16135, P20486, P27271, P28974, P35198, P40063, P84395, Q04438, Q28EW5, Q28GG3, Q4V853, Q5FVD7, Q5R4F8, Q5R977, Q5RD94, Q5U550, Q66657, Q68EK9, Q68FR5, Q6AX78, Q6C3T0, Q751I6, Q7T2A3
Diamond homologs: A1L1K4, A6QLJ4, A9JR56, Q28EW5, Q28GG3, Q4V853, Q5BIS3, Q5BJM7, Q5BKH3, Q5FVD7, Q5R4F8, Q5RDD6, Q5ZKB1, Q66KZ1, Q6AX78, Q6GPV4, Q6TEL3, Q8BGH7, Q8BHL7, Q9NRR3, Q9NRR8, Q9VNE7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 13 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1528 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:131264167:G:GG | donor_gain | 1.0000 |
| 5:131359207:A:AG | acceptor_gain | 1.0000 |
| 5:131359208:G:GG | acceptor_gain | 1.0000 |
| 5:131359208:GACT:G | acceptor_gain | 1.0000 |
| 5:131385645:G:GG | donor_gain | 1.0000 |
| 5:131391109:G:GG | donor_gain | 1.0000 |
| 5:131264163:GACG:G | donor_gain | 0.9900 |
| 5:131264165:CGGT:C | donor_loss | 0.9900 |
| 5:131264166:GGTG:G | donor_loss | 0.9900 |
| 5:131264167:G:A | donor_loss | 0.9900 |
| 5:131264168:TGAG:T | donor_loss | 0.9900 |
| 5:131264169:GAGT:G | donor_loss | 0.9900 |
| 5:131264483:A:T | donor_gain | 0.9900 |
| 5:131315975:GATA:G | acceptor_gain | 0.9900 |
| 5:131359205:CTAG:C | acceptor_gain | 0.9900 |
| 5:131359205:CTAGA:C | acceptor_loss | 0.9900 |
| 5:131359206:TAG:T | acceptor_loss | 0.9900 |
| 5:131359206:TAGA:T | acceptor_gain | 0.9900 |
| 5:131359207:A:G | acceptor_loss | 0.9900 |
| 5:131359207:AGAC:A | acceptor_gain | 0.9900 |
| 5:131359208:G:GC | acceptor_loss | 0.9900 |
| 5:131359208:GA:G | acceptor_gain | 0.9900 |
| 5:131359208:GAC:G | acceptor_gain | 0.9900 |
| 5:131359208:GACTA:G | acceptor_gain | 0.9900 |
| 5:131359302:G:GT | donor_gain | 0.9900 |
| 5:131359422:A:T | donor_gain | 0.9900 |
| 5:131359544:GCCT:G | donor_gain | 0.9900 |
| 5:131385535:T:G | acceptor_gain | 0.9900 |
| 5:131385541:A:AG | acceptor_gain | 0.9900 |
| 5:131385542:G:GG | acceptor_gain | 0.9900 |
AlphaMissense
554 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:131385559:T:A | I24N | 1.000 |
| 5:131385559:T:G | I24S | 1.000 |
| 5:131385574:T:A | I29N | 1.000 |
| 5:131385574:T:G | I29S | 1.000 |
| 5:131385582:C:T | P32S | 1.000 |
| 5:131385583:C:A | P32H | 1.000 |
| 5:131385591:T:A | F35I | 1.000 |
| 5:131385591:T:C | F35L | 1.000 |
| 5:131385592:T:C | F35S | 1.000 |
| 5:131385592:T:G | F35C | 1.000 |
| 5:131385593:T:A | F35L | 1.000 |
| 5:131385593:T:G | F35L | 1.000 |
| 5:131385597:C:A | H37N | 1.000 |
| 5:131385597:C:G | H37D | 1.000 |
| 5:131385606:C:G | H40D | 1.000 |
| 5:131385608:T:A | H40Q | 1.000 |
| 5:131385608:T:G | H40Q | 1.000 |
| 5:131391015:T:C | M60T | 1.000 |
| 5:131391025:G:C | K63N | 1.000 |
| 5:131391025:G:T | K63N | 1.000 |
| 5:131385559:T:C | I24T | 0.999 |
| 5:131385565:G:T | R26I | 0.999 |
| 5:131385572:G:A | M28I | 0.999 |
| 5:131385572:G:C | M28I | 0.999 |
| 5:131385572:G:T | M28I | 0.999 |
| 5:131385574:T:C | I29T | 0.999 |
| 5:131385576:G:A | G30R | 0.999 |
| 5:131385576:G:C | G30R | 0.999 |
| 5:131385577:G:A | G30E | 0.999 |
| 5:131385577:G:T | G30V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000013971 (5:131386949 A>G), RS1000028545 (5:131281100 G>T), RS1000048967 (5:131238821 G>A,C,T), RS1000073234 (5:131370157 T>C), RS1000073633 (5:131298709 C>T), RS1000077267 (5:131324079 C>G), RS1000120069 (5:131386643 G>C,T), RS1000130361 (5:131345972 C>A,G,T), RS1000138463 (5:131356746 A>T), RS1000147180 (5:131349951 A>G), RS1000186050 (5:131336927 A>G,T), RS1000187579 (5:131392763 C>T), RS1000194707 (5:131270945 G>C,T), RS1000207013 (5:131264952 A>G), RS1000211448 (5:131305383 G>A)
Disease associations
OMIM: gene MIM:619457 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002817_5 | Alzheimer’s disease in APOE e4- carriers | 2.000000e-07 |
| GCST002875_174 | Diisocyanate-induced asthma | 1.000000e-06 |
| GCST004131_32 | Inflammatory bowel disease | 4.000000e-27 |
| GCST004132_10 | Crohn’s disease | 6.000000e-36 |
| GCST004133_36 | Ulcerative colitis | 2.000000e-06 |
| GCST004861_64 | Itch intensity from mosquito bite | 1.000000e-27 |
| GCST004862_151 | Itch intensity from mosquito bite adjusted by bite size | 2.000000e-15 |
| GCST004862_224 | Itch intensity from mosquito bite adjusted by bite size | 3.000000e-08 |
| GCST004862_57 | Itch intensity from mosquito bite adjusted by bite size | 2.000000e-08 |
| GCST004863_99 | Mosquito bite size | 2.000000e-15 |
| GCST004864_30 | Perceived unattractiveness to mosquitoes | 5.000000e-06 |
| GCST004865_88 | Itch intensity from mosquito bite adjusted by bite size | 5.000000e-15 |
| GCST010241_308 | Apolipoprotein A1 levels | 2.000000e-08 |
| GCST010242_379 | HDL cholesterol levels | 3.000000e-10 |
| GCST010244_416 | Triglyceride levels | 7.000000e-10 |
| GCST010701_41 | Cortical surface area (MOSTest) | 1.000000e-20 |
| GCST010702_96 | Subcortical volume (MOSTest) | 2.000000e-08 |
| GCST010703_160 | Brain morphology (MOSTest) | 3.000000e-09 |
| GCST012047_19 | Fasting glucose | 1.000000e-07 |
| GCST90002388_322 | Lymphocyte count | 4.000000e-11 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0008380 | perceived unattractiveness to mosquitos measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Nickel | increases expression | 2 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bufotalin | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzoates | decreases expression | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cycloheximide | increases expression, affects cotreatment, affects expression | 1 |
| Tetrachlorodibenzodioxin | affects expression, affects cotreatment | 1 |
| Thimerosal | increases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.