EFNA4
gene geneOn this page
Also known as LERK4
Summary
EFNA4 (ephrin A4, HGNC:3224) is a protein-coding gene on chromosome 1q21.3, encoding Ephrin-A4 (P52798). Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development.
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin that has been implicated in proliferation and metastasis of several types of cancers.
Source: NCBI Gene 1945 — RefSeq curated summary.
At a glance
- Gene–disease (curated): craniosynostosis (Limited, GenCC)
- GWAS associations: 16
- Clinical variants (ClinVar): 4 total
- MANE Select transcript:
NM_005227
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3224 |
| Approved symbol | EFNA4 |
| Name | ephrin A4 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LERK4 |
| Ensembl gene | ENSG00000243364 |
| Ensembl biotype | protein_coding |
| OMIM | 601380 |
| Entrez | 1945 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000359751, ENST00000368409, ENST00000427683
RefSeq mRNA: 4 — MANE Select: NM_005227
NM_001406810, NM_005227, NM_182689, NM_182690
CCDS: CCDS1089, CCDS41407, CCDS44237
Canonical transcript exons
ENST00000368409 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000961189 | 155066730 | 155067016 |
| ENSE00000961190 | 155067372 | 155067440 |
| ENSE00001447063 | 155068853 | 155069553 |
| ENSE00001825919 | 155063740 | 155063936 |
Expression profiles
Bgee: expression breadth ubiquitous, 197 present calls, max score 89.27.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.9432 / max 180.8391, expressed in 1763 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5564 | 19.2178 | 1749 |
| 5563 | 2.7254 | 1307 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.27 | gold quality |
| skin of leg | UBERON:0001511 | 88.49 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.19 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.47 | gold quality |
| zone of skin | UBERON:0000014 | 86.70 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.32 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 83.80 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.77 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.18 | gold quality |
| rectum | UBERON:0001052 | 81.68 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.41 | gold quality |
| minor salivary gland | UBERON:0001830 | 81.37 | gold quality |
| transverse colon | UBERON:0001157 | 81.34 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 81.14 | gold quality |
| gingival epithelium | UBERON:0001949 | 81.11 | silver quality |
| stromal cell of endometrium | CL:0002255 | 80.82 | gold quality |
| mouth mucosa | UBERON:0003729 | 80.71 | gold quality |
| ectocervix | UBERON:0012249 | 80.33 | gold quality |
| gingiva | UBERON:0001828 | 80.25 | gold quality |
| granulocyte | CL:0000094 | 80.02 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 79.80 | gold quality |
| right ovary | UBERON:0002118 | 79.80 | gold quality |
| vagina | UBERON:0000996 | 79.77 | gold quality |
| adrenal cortex | UBERON:0001235 | 79.59 | gold quality |
| adrenal gland | UBERON:0002369 | 79.26 | gold quality |
| endometrium epithelium | UBERON:0004811 | 78.92 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 78.86 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 78.58 | gold quality |
| left ovary | UBERON:0002119 | 78.38 | gold quality |
| right lobe of liver | UBERON:0001114 | 78.02 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.33 |
| E-MTAB-6142 | no | 72.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting EFNA4, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-149-5P | 99.25 | 67.16 | 1315 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-376A-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-376B-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
| HSA-MIR-5187-5P | 98.54 | 67.94 | 952 |
| HSA-MIR-660-3P | 98.14 | 66.04 | 1434 |
| HSA-MIR-340-3P | 98.11 | 68.25 | 679 |
| HSA-MIR-6827-3P | 98.08 | 72.27 | 651 |
| HSA-MIR-6728-5P | 97.79 | 66.33 | 891 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
| HSA-MIR-3616-3P | 96.96 | 65.45 | 983 |
| HSA-MIR-3189-3P | 96.80 | 66.34 | 896 |
| HSA-MIR-1343-5P | 96.48 | 66.06 | 1506 |
| HSA-MIR-601 | 95.98 | 67.59 | 421 |
| HSA-MIR-1238-5P | 94.82 | 67.52 | 493 |
Literature-anchored findings (GeneRIF, showing 10)
- Characterization of the promoter (PMID:12030849)
- This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis. (PMID:16540516)
- CLL B-cells showed a more heterogeneous Eph/EFN profile, specially EFNA4, EphB6 and EphA10. EphB6 and EFNA4 were further related with the clinical course of CLL. (PMID:18819711)
- EFNA4-EphA2 interactions are involved in Chronic lymphocytic leukemia cell trafficking between blood and the tissues (PMID:19828693)
- The cytoplasmic pattern of ephrin A4 could identify a subgroup of primary osteosarcoma patients with a high liability for progression, poor prognosis, and inferior response to chemotherapy. (PMID:20071790)
- The interaction between ephrin-As, Eph receptors and integrin alpha3 is plausibly important for the crosstalk between Eph and integrin signalling pathways at the membrane protrusions and in the migration of brain cancer cells. (PMID:23686814)
- The present study provides evidence that microglia upregulates endothelial ephrin-A3 and ephrin-A4 to facilitate in vitro angiogenesis of brain endothelial cells, which is mediated by microglia-released TNF-alpha. (PMID:25070915)
- Study present for the first time in vitro and in vivo evidence suggesting that the major role of two ephrin A4 isoforms in chronic lymphocytic leukemia could be related with a non-previously described mechanism of survival linked to extravasation strongly dependent on integrin signaling. (PMID:27374180)
- Ephrin A4-ephrin receptor A10 signaling promotes cell migration and spheroid formation by upregulating NANOG expression in oral squamous cell carcinoma cells. (PMID:33436772)
- Interference of EFNA4 suppresses cell proliferation, invasion and angiogenesis in hepatocellular carcinoma by downregulating PYGO2. (PMID:36404439)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Efna4 | ENSMUSG00000028040 |
| rattus_norvegicus | Efna4 | ENSRNOG00000020588 |
| drosophila_melanogaster | Ephrin | FBGN0040324 |
| caenorhabditis_elegans | WBGENE00001163 | |
| caenorhabditis_elegans | WBGENE00001164 | |
| caenorhabditis_elegans | WBGENE00001165 | |
| caenorhabditis_elegans | WBGENE00006869 |
Paralogs (7): EFNB1 (ENSG00000090776), EFNA2 (ENSG00000099617), EFNB3 (ENSG00000108947), EFNB2 (ENSG00000125266), EFNA3 (ENSG00000143590), EFNA1 (ENSG00000169242), EFNA5 (ENSG00000184349)
Protein
Protein identifiers
Ephrin-A4 — P52798 (reviewed: P52798)
Alternative names: EPH-related receptor tyrosine kinase ligand 4
All UniProt accessions (1): P52798
UniProt curated annotations — full annotation on UniProt →
Function. Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils.
Subcellular location. Cell membrane Secreted.
Tissue specificity. Expressed in the adult spleen, lymph node, prostate, ovary, small intestine, and colon, and in fetal heart, lung, liver and kidney. Also detected in hematopoietic cell lines.
Similarity. Belongs to the ephrin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P52798-1 | 1, GPI-anchored | yes |
| P52798-2 | 2, Secreted | |
| P52798-3 | 3 |
RefSeq proteins (4): NP_001393739, NP_005218, NP_872631, NP_872632 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001799 | Ephrin_RBD | Domain |
| IPR008972 | Cupredoxin | Homologous_superfamily |
| IPR019765 | Ephrin_CS | Conserved_site |
| IPR031328 | Ephrin | Family |
| IPR034252 | Ephrin-A_Ecto | Domain |
Pfam: PF00812
UniProt features (10 total): disulfide bond 2, splice variant 2, signal peptide 1, chain 1, propeptide 1, domain 1, lipid moiety-binding region 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P52798-F1 | 83.78 | 0.62 |
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 (1): 170
Disulfide bonds (2): 58–99, 86–144
Glycosylation sites (1): 33
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-2682334 | EPH-Ephrin signaling |
| R-HSA-3928663 | EPHA-mediated growth cone collapse |
| R-HSA-3928665 | EPH-ephrin mediated repulsion of cells |
MSigDB gene sets: 145 (showing top):
MYOGENIN_Q6, MODULE_64, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MODULE_493, GOBP_NEUROGENESIS, LEE_LIVER_CANCER_CIPROFIBRATE_DN, GOBP_CELL_CELL_SIGNALING, TCF4_Q5, WANG_RESPONSE_TO_BEXAROTENE_UP, MODULE_99, ZIC1_01, GOBP_EPHRIN_RECEPTOR_SIGNALING_PATHWAY, MODULE_259, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOMF_TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY
GO Biological Process (3): cell-cell signaling (GO:0007267), axon guidance (GO:0007411), ephrin receptor signaling pathway (GO:0048013)
GO Molecular Function (3): transmembrane-ephrin receptor activity (GO:0005005), ephrin receptor binding (GO:0046875), protein binding (GO:0005515)
GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| EPH-Ephrin signaling | 2 |
| Axon guidance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| membrane | 2 |
| cell communication | 1 |
| signaling | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| ephrin receptor activity | 1 |
| signaling receptor binding | 1 |
| binding | 1 |
| cell periphery | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
722 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EFNA4 | EPHA4 | P54764 | 999 |
| EFNA4 | EPHA1 | P21709 | 995 |
| EFNA4 | EPHA2 | P29317 | 993 |
| EFNA4 | EPHA10 | Q5JZY3 | 969 |
| EFNA4 | EPHB1 | P54762 | 908 |
| EFNA4 | EPHA3 | P29320 | 871 |
| EFNA4 | EPHB2 | P29323 | 831 |
| EFNA4 | EPHB6 | O15197 | 796 |
| EFNA4 | EPHA7 | Q15375 | 787 |
| EFNA4 | NGEF | Q8N5V2 | 776 |
| EFNA4 | EPHA5 | P54756 | 776 |
| EFNA4 | EPHA8 | P29322 | 743 |
| EFNA4 | EPHB4 | P54760 | 728 |
| EFNA4 | EFNB3 | Q15768 | 690 |
| EFNA4 | NGFR | P08138 | 602 |
| EFNA4 | EPHB3 | P54753 | 602 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EPHA4 | EFNA4 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| EFNA4 | EPHA4 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| EFNA4 | TMEM147 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TUSC5 | EFNA4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EPHA7 | EFNA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| EFNA4 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| TUSC5 | EFNA4 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM147 | EFNA4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (242): EFNA4 (Affinity Capture-RNA), EFNA4 (Affinity Capture-RNA), EFNA4 (Two-hybrid), EFNA4 (Two-hybrid), COG6 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TNPO2 (Affinity Capture-MS), SYMPK (Affinity Capture-MS), CCNB2 (Affinity Capture-MS), INTS5 (Affinity Capture-MS), TUBGCP3 (Affinity Capture-MS), ZW10 (Affinity Capture-MS), BZW1 (Affinity Capture-MS), EXOC8 (Affinity Capture-MS), HEATR5B (Affinity Capture-MS)
ESM2 similar proteins: A5A8Y8, A7MBM2, E9PY61, O08542, O08545, O08717, O43921, O75888, O77805, O77835, P04087, P05111, P07434, P07994, P17490, P34820, P43031, P52794, P52797, P52798, P52801, P55101, P58166, Q16586, Q24JP5, Q28686, Q5Q0T9, Q5RJL6, Q5SZI1, Q641Q3, Q6PGN1, Q6PRD1, Q6ZVN8, Q7TQ32, Q7Z5Y6, Q80WF4, Q8C1Q4, Q8K1S7, Q8N7M5, Q8NCW0
Diamond homologs: O08542, O08543, O08545, O35393, O43921, O73612, O73874, P20827, P52793, P52794, P52795, P52796, P52797, P52798, P52799, P52800, P52801, P52802, P52803, P52804, P79727, P79728, P97553, P97605, P98172, Q06AS9, Q15768, Q3ZC64, O13097, O44516
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EFNA4 | up-regulates | EPHA5 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
926 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:155063927:G:GG | donor_gain | 1.0000 |
| 1:155066978:GCTT:G | donor_gain | 1.0000 |
| 1:155067014:TCT:T | donor_gain | 1.0000 |
| 1:155067017:G:GG | donor_gain | 1.0000 |
| 1:155063909:T:TA | donor_gain | 0.9900 |
| 1:155063910:A:AA | donor_gain | 0.9900 |
| 1:155063933:CCAGG:C | donor_loss | 0.9900 |
| 1:155063934:CAGGT:C | donor_loss | 0.9900 |
| 1:155063935:AGGTA:A | donor_loss | 0.9900 |
| 1:155063936:GGTAG:G | donor_loss | 0.9900 |
| 1:155063937:G:A | donor_loss | 0.9900 |
| 1:155063937:G:GA | donor_loss | 0.9900 |
| 1:155063938:T:A | donor_loss | 0.9900 |
| 1:155066861:GCTA:G | donor_gain | 0.9900 |
| 1:155067012:CATCT:C | donor_gain | 0.9900 |
| 1:155067013:ATCT:A | donor_gain | 0.9900 |
| 1:155067014:TCTGT:T | donor_loss | 0.9900 |
| 1:155067015:CT:C | donor_gain | 0.9900 |
| 1:155067017:G:A | donor_loss | 0.9900 |
| 1:155067018:T:G | donor_loss | 0.9900 |
| 1:155067020:A:AT | donor_loss | 0.9900 |
| 1:155067021:G:T | donor_loss | 0.9900 |
| 1:155068978:C:CA | acceptor_gain | 0.9900 |
| 1:155063907:C:G | donor_gain | 0.9800 |
| 1:155066724:CTGCA:C | acceptor_loss | 0.9800 |
| 1:155066725:TGCAG:T | acceptor_loss | 0.9800 |
| 1:155066726:GCAGG:G | acceptor_loss | 0.9800 |
| 1:155066727:CA:C | acceptor_loss | 0.9800 |
| 1:155066728:AGGT:A | acceptor_loss | 0.9800 |
| 1:155066729:G:GA | acceptor_loss | 0.9800 |
AlphaMissense
1262 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:155063919:G:C | W32C | 0.998 |
| 1:155063919:G:T | W32C | 0.998 |
| 1:155066907:G:C | W97C | 0.998 |
| 1:155066907:G:T | W97C | 0.998 |
| 1:155066986:T:C | F124L | 0.998 |
| 1:155066987:T:G | F124C | 0.998 |
| 1:155066988:C:A | F124L | 0.998 |
| 1:155066988:C:G | F124L | 0.998 |
| 1:155066788:T:A | C58S | 0.996 |
| 1:155066788:T:C | C58R | 0.996 |
| 1:155066789:G:C | C58S | 0.996 |
| 1:155066911:T:A | C99S | 0.996 |
| 1:155066912:G:C | C99S | 0.996 |
| 1:155066959:T:C | F115L | 0.996 |
| 1:155066961:C:A | F115L | 0.996 |
| 1:155066961:C:G | F115L | 0.996 |
| 1:155066987:T:C | F124S | 0.996 |
| 1:155066789:G:A | C58Y | 0.995 |
| 1:155066911:T:C | C99R | 0.995 |
| 1:155066912:G:A | C99Y | 0.994 |
| 1:155066913:C:G | C99W | 0.994 |
| 1:155067411:T:C | L147P | 0.994 |
| 1:155066777:T:C | L54P | 0.993 |
| 1:155066790:C:G | C58W | 0.993 |
| 1:155066840:T:C | L75S | 0.993 |
| 1:155066902:C:A | R96S | 0.993 |
| 1:155063917:T:A | W32R | 0.992 |
| 1:155063917:T:C | W32R | 0.992 |
| 1:155066968:T:C | F118L | 0.992 |
| 1:155066969:T:G | F118C | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000261643 (1:155066531 G>A,T), RS1001331677 (1:155064591 C>T), RS1001368419 (1:155064090 G>A), RS1001418155 (1:155064808 C>G,T), RS1002068673 (1:155069944 G>A), RS1002230 (1:155063753 G>A), RS1002264598 (1:155063732 C>G,T), RS1003813721 (1:155066097 G>A,T), RS1004443861 (1:155066886 C>A,T), RS1004837915 (1:155067077 G>C,T), RS1005044865 (1:155065286 T>C), RS1005485567 (1:155064968 T>A), RS1005769497 (1:155063553 T>C), RS1005971283 (1:155068080 C>G), RS1006051615 (1:155069954 G>A)
Disease associations
OMIM: gene MIM:601380 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| craniosynostosis | Limited | Autosomal dominant |
Mondo (1): craniosynostosis (MONDO:0015469)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_19 | Prostate cancer | 2.000000e-08 |
| GCST007294_124 | Body fat distribution (trunk fat ratio) | 8.000000e-35 |
| GCST007294_3 | Body fat distribution (trunk fat ratio) | 6.000000e-21 |
| GCST007294_50 | Body fat distribution (trunk fat ratio) | 1.000000e-15 |
| GCST007295_17 | Body fat distribution (leg fat ratio) | 3.000000e-13 |
| GCST007295_37 | Body fat distribution (leg fat ratio) | 7.000000e-17 |
| GCST007295_72 | Body fat distribution (leg fat ratio) | 1.000000e-28 |
| GCST007324_167 | Adventurousness | 3.000000e-11 |
| GCST010696_19 | Cortical thickness (min-P) | 2.000000e-10 |
| GCST010697_10 | Cortical surface area (min-P) | 3.000000e-10 |
| GCST010698_59 | Subcortical volume (min-P) | 9.000000e-10 |
| GCST010699_20 | Brain morphology (min-P) | 7.000000e-10 |
| GCST010700_5 | Cortical thickness (MOSTest) | 8.000000e-17 |
| GCST010701_66 | Cortical surface area (MOSTest) | 1.000000e-09 |
| GCST010702_43 | Subcortical volume (MOSTest) | 3.000000e-10 |
| GCST010703_253 | Brain morphology (MOSTest) | 4.000000e-14 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003398 | Craniosynostoses | C05.116.099.370.894.232; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression | 2 |
| Silver | decreases expression | 2 |
| Valproic Acid | increases methylation, affects expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| methylparaben | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| butylparaben | increases expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Chelating Agents | affects binding, increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrochloric Acid | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00722436 | PHASE4 | TERMINATED | Tranexamic Acid for Craniofacial Surgery |
| NCT02188576 | PHASE4 | COMPLETED | The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery |
| NCT02229968 | PHASE2 | ACTIVE_NOT_RECRUITING | Efficacy of Amicar for Children Having Craniofacial Surgery |
| NCT00912119 | PHASE1 | COMPLETED | Amicar Pharmacokinetics of Children Having Craniofacial Surgery |
| NCT00077831 | Not specified | COMPLETED | Child and Infant Learning Project |
| NCT00106977 | Not specified | COMPLETED | Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) |
| NCT00367796 | Not specified | COMPLETED | Genetic Analysis of Craniosynostosis, Philadelphia Type |
| NCT00769847 | Not specified | WITHDRAWN | Endoscopic Treatment for Isolated, Single Suture Craniosynostosis |
| NCT00773643 | Not specified | COMPLETED | Osteogenic Profiling of Tissue From Children With Craniosynostosis |
| NCT01898650 | Not specified | COMPLETED | MRI for Non-invasive Evaluation of Brain Stress |
| NCT02287805 | Not specified | COMPLETED | Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care |
| NCT02561728 | Not specified | WITHDRAWN | Hanger Helmet Study |
| NCT03025763 | Not specified | ACTIVE_NOT_RECRUITING | Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones |
| NCT03231085 | Not specified | COMPLETED | Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child |
| NCT04704284 | Not specified | COMPLETED | Comparing MRI to CT on Pediatric Craniosynostosis. |
| NCT05911139 | Not specified | ENROLLING_BY_INVITATION | Influence of General Anesthesia on the Dynamic Changes in Brain Damage Markers During and After Craniosynostosis Operations in Infancy |
| NCT06928727 | Not specified | RECRUITING | Ocular Characteristics in Patients With Craniosynostosis |
Related Atlas pages
- Associated diseases: craniosynostosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): craniosynostosis