BARX1
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Summary
BARX1 (BARX homeobox 1, HGNC:955) is a protein-coding gene on chromosome 9q22.32, encoding Homeobox protein BarH-like 1 (Q9HBU1). Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis.
This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia.
Source: NCBI Gene 56033 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 38 total — 1 likely-pathogenic
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_021570
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:955 |
| Approved symbol | BARX1 |
| Name | BARX homeobox 1 |
| Location | 9q22.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000131668 |
| Ensembl biotype | protein_coding |
| OMIM | 603260 |
| Entrez | 56033 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000253968, ENST00000401724
RefSeq mRNA: 1 — MANE Select: NM_021570
NM_021570
CCDS: CCDS35070
Canonical transcript exons
ENST00000253968 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000712408 | 93952896 | 93953187 |
| ENSE00000869833 | 93952729 | 93952813 |
| ENSE00001185580 | 93954924 | 93955355 |
| ENSE00001560385 | 93951627 | 93952328 |
Expression profiles
Bgee: expression breadth broad, 100 present calls, max score 98.95.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4502 / max 270.2555, expressed in 181 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101503 | 1.2839 | 169 |
| 101505 | 0.1286 | 68 |
| 101504 | 0.0378 | 21 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of stomach | UBERON:0001199 | 98.95 | gold quality |
| body of stomach | UBERON:0001161 | 92.06 | gold quality |
| stomach | UBERON:0000945 | 89.48 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 84.03 | gold quality |
| fundus of stomach | UBERON:0001160 | 83.24 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.05 | gold quality |
| cartilage tissue | UBERON:0002418 | 77.22 | gold quality |
| omental fat pad | UBERON:0010414 | 74.92 | gold quality |
| peritoneum | UBERON:0002358 | 74.83 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 73.05 | gold quality |
| periodontal ligament | UBERON:0008266 | 71.86 | silver quality |
| pylorus | UBERON:0001166 | 66.17 | silver quality |
| cardia of stomach | UBERON:0001162 | 63.71 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 63.64 | gold quality |
| left testis | UBERON:0004533 | 61.01 | gold quality |
| right testis | UBERON:0004534 | 60.89 | gold quality |
| triceps brachii | UBERON:0001509 | 60.86 | gold quality |
| gluteal muscle | UBERON:0002000 | 60.70 | gold quality |
| upper leg skin | UBERON:0004262 | 60.45 | silver quality |
| testis | UBERON:0000473 | 58.74 | gold quality |
| tibia | UBERON:0000979 | 57.16 | gold quality |
| superficial temporal artery | UBERON:0001614 | 56.43 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 55.88 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 55.58 | gold quality |
| right coronary artery | UBERON:0001625 | 54.24 | gold quality |
| endothelial cell | CL:0000115 | 54.23 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 54.11 | gold quality |
| quadriceps femoris | UBERON:0001377 | 53.41 | gold quality |
| pancreatic ductal cell | CL:0002079 | 52.96 | silver quality |
| vastus lateralis | UBERON:0001379 | 52.70 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8060 | no | 47.20 |
| E-ANND-3 | no | 0.47 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
9 targets.
| Target | Regulation |
|---|---|
| ADAM2 | |
| BMP2 | |
| BMP4 | |
| EMX2 | |
| FBN1 | |
| MCL1 | |
| NCAM1 | Unknown |
| SOX9 | Unknown |
| TPM2 | Unknown |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0875.1 | BARX1 | NK |
| MA0875.2 | BARX1 | NK |
JASPAR matrix evidence (PMIDs): PMID:18585359
Upstream regulators (CollecTRI, top): HOXA2, HOXD13, ISL1
miRNA regulators (miRDB)
10 targeting BARX1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-5694 | 97.06 | 67.70 | 682 |
| HSA-MIR-874-5P | 96.93 | 63.92 | 1014 |
Literature-anchored findings (GeneRIF, showing 10)
- PITX2, BARX1, and FOXC1 mutations were absent in De Hauwere syndrome and suggest that De Hauwere syndrome is caused by a different gene. (PMID:17486624)
- Regional expression of barx1 was observed in epithelium before mixed dentition, while during mixed dentition gene appeared in hyaline cartilage. Expression of barx1 appears in cleft lip palate affected structures mainly in mixed dentition. (PMID:18708738)
- we provide supportive evidence that genetic variants at FOXP1, BARX1, and FOXF1 confer risk for the development of EAC. (PMID:26383589)
- results suggest that genetic variants at 9q22 are associated with the risk of both esophageal adenocarcinoma/Barrett esophagus and esophageal squamous cell carcinoma, possibly by regulating the function of BARX1 (PMID:29454095)
- associated with Infantile hypertrophic pyloric stenosis risk (PMID:30281099)
- Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families. (PMID:33026187)
- HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of Malignancy in Gastrointestinal Stromal Tumor. (PMID:33451979)
- BARX1 promotes osteosarcoma cell proliferation and invasion by regulating HSPA6 expression. (PMID:36927457)
- ZFP36 loss-mediated BARX1 stabilization promotes malignant phenotypes by transactivating master oncogenes in NSCLC. (PMID:37587140)
- BARX1 repressed FOXF1 expression and activated Wnt/beta-catenin signaling pathway to drive lung adenocarcinoma. (PMID:38290639)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | barx1 | ENSDARG00000007407 |
| mus_musculus | Barx1 | ENSMUSG00000021381 |
| rattus_norvegicus | Barx1 | ENSRNOG00000016915 |
| drosophila_melanogaster | B-H2 | FBGN0004854 |
| drosophila_melanogaster | B-H1 | FBGN0011758 |
| caenorhabditis_elegans | WBGENE00000451 | |
| caenorhabditis_elegans | WBGENE00000452 |
Paralogs (3): BARX2 (ENSG00000043039), BARHL1 (ENSG00000125492), BARHL2 (ENSG00000143032)
Protein
Protein identifiers
Homeobox protein BarH-like 1 — Q9HBU1 (reviewed: Q9HBU1)
All UniProt accessions (1): Q9HBU1
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity. Binds to a regulatory module of the NCAM promoter.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed. Expressed at higher levels in testis and heart. Detected in craniofacial tissue and adult iris, but not in lymphocytes, fibroblasts, choroid retina, retinal pigment epithelium, kidney, or fetal liver.
Polymorphism. The polymorphism is not associated with Axenfeld-Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations.
Similarity. Belongs to the BAR homeobox family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9HBU1-1 | 1 | yes |
| Q9HBU1-2 | 2 |
RefSeq proteins (1): NP_067545* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000047 | HTH_motif | Conserved_site |
| IPR001356 | HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR020479 | HD_metazoa | Domain |
| IPR050848 | Homeobox_TF | Family |
Pfam: PF00046
UniProt features (14 total): sequence conflict 4, helix 3, region of interest 2, chain 1, DNA-binding region 1, compositionally biased region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2DMT | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HBU1-F1 | 65.51 | 0.24 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 94 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, AP2_Q3, GOBP_CELL_CELL_SIGNALING, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_HEMATOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, chr9q22, DOUGLAS_BMI1_TARGETS_UP, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOBP_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_4, AP2GAMMA_01
GO Biological Process (11): regulation of transcription by RNA polymerase II (GO:0006357), cell-cell signaling (GO:0007267), anterior/posterior pattern specification (GO:0009952), Wnt signaling pathway (GO:0016055), negative regulation of Wnt signaling pathway (GO:0030178), endothelial cell differentiation (GO:0045446), spleen development (GO:0048536), digestive system development (GO:0055123), regulation of DNA-templated transcription (GO:0006355), tissue development (GO:0009888), animal organ development (GO:0048513)
GO Molecular Function (4): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), DNA binding (GO:0003677)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| anatomical structure development | 2 |
| transcription cis-regulatory region binding | 2 |
| transcription by RNA polymerase II | 1 |
| cell communication | 1 |
| signaling | 1 |
| regionalization | 1 |
| cell surface receptor signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| endothelium development | 1 |
| epithelial cell differentiation | 1 |
| hematopoietic or lymphoid organ development | 1 |
| system development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription regulator activity | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1048 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BARX1 | BMP4 | P12644 | 740 |
| BARX1 | FGF8 | P55075 | 707 |
| BARX1 | SFRP2 | Q96HF1 | 664 |
| BARX1 | SHH | Q15465 | 655 |
| BARX1 | PAX9 | P55771 | 652 |
| BARX1 | NOG | Q13253 | 617 |
| BARX1 | MSX1 | P28360 | 616 |
| BARX1 | NKX3-2 | P78367 | 609 |
| BARX1 | LHX8 | Q68G74 | 609 |
| BARX1 | SFRP1 | Q8N474 | 608 |
| BARX1 | TBX22 | Q9Y458 | 606 |
| BARX1 | FOXF1 | Q12946 | 602 |
| BARX1 | OSR2 | Q8N2R0 | 583 |
| BARX1 | HAND2 | P61296 | 552 |
| BARX1 | LHX6 | Q9UPM6 | 552 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYP17A1 | BARX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BARX1 | HOXD9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BARX1 | MAPK6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BARX1 | RPS6KA3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FOXA3 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXS1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (13): BARX1 (Affinity Capture-MS), BARX1 (Affinity Capture-MS), BARX1 (Affinity Capture-MS), RPL14 (Cross-Linking-MS (XL-MS)), BARX1 (Proximity Label-MS), BARX1 (Proximity Label-MS), BARX1 (Proximity Label-MS), BARX1 (Proximity Label-MS), BARX1 (Two-hybrid), BARX1 (Two-hybrid), BARX1 (Reconstituted Complex), CYP17A1 (Two-hybrid), HOXD9 (Two-hybrid)
ESM2 similar proteins: A1YEV8, A1YF08, A1YG25, A1YG85, A2RU54, A2T711, A2T756, A8MTQ0, O14813, O15522, O35160, O35602, O43763, O70218, P28360, P42580, P43687, P50223, P52945, P52946, P52947, P70118, P70354, P81062, Q06348, Q2VL79, Q2VL84, Q2VL85, Q2VL87, Q2VL88, Q61663, Q62066, Q62782, Q6XYB7, Q7YRX0, Q96IS3, Q99811, Q9DED6, Q9ER42, Q9GK08
Diamond homologs: A0JPN1, A1YG85, A5PKG8, A6NJ46, A6NMT0, A7MB54, A9L937, B0VXK3, D2KQB0, E7FDX5, M0R6D8, O08686, O13023, O35762, O42365, O43364, O43711, O55144, O88181, O93366, O93367, O93590, P0C1T1, P10035, P14652, P14837, P20009, P28468, P31245, P31246, P31261, P31314, P42583, P42584, P43120, P43345, P43688, P50219, P52945, P52950
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
38 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 35 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 873324 | Single allele | Likely pathogenic |
SpliceAI
614 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:93952727:A:AC | donor_gain | 1.0000 |
| 9:93952728:C:CC | donor_gain | 1.0000 |
| 9:93952728:CT:C | donor_gain | 1.0000 |
| 9:93952728:CTA:C | donor_gain | 1.0000 |
| 9:93952809:CTATT:C | acceptor_gain | 1.0000 |
| 9:93952812:TT:T | acceptor_gain | 1.0000 |
| 9:93952814:C:CC | acceptor_gain | 1.0000 |
| 9:93952892:CTACC:C | donor_loss | 1.0000 |
| 9:93952894:A:AC | donor_gain | 1.0000 |
| 9:93952894:AC:A | donor_loss | 1.0000 |
| 9:93952895:C:CC | donor_gain | 1.0000 |
| 9:93952895:C:CT | donor_loss | 1.0000 |
| 9:93952895:CCTGT:C | donor_gain | 1.0000 |
| 9:93952918:T:TA | donor_gain | 1.0000 |
| 9:93952328:CCT:C | acceptor_loss | 0.9900 |
| 9:93952329:CTGC:C | acceptor_loss | 0.9900 |
| 9:93952722:CACT:C | donor_loss | 0.9900 |
| 9:93952723:ACTC:A | donor_loss | 0.9900 |
| 9:93952725:T:TA | donor_loss | 0.9900 |
| 9:93952726:C:CC | donor_loss | 0.9900 |
| 9:93952727:ACTA:A | donor_loss | 0.9900 |
| 9:93952728:C:T | donor_loss | 0.9900 |
| 9:93952728:CTAT:C | donor_gain | 0.9900 |
| 9:93952737:T:TA | donor_gain | 0.9900 |
| 9:93952810:TATT:T | acceptor_gain | 0.9900 |
| 9:93952811:ATTC:A | acceptor_loss | 0.9900 |
| 9:93952812:TTCTG:T | acceptor_loss | 0.9900 |
| 9:93952813:TC:T | acceptor_loss | 0.9900 |
| 9:93952814:CT:C | acceptor_loss | 0.9900 |
| 9:93952815:T:G | acceptor_loss | 0.9900 |
AlphaMissense
1621 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:93952733:T:A | K199I | 1.000 |
| 9:93952735:C:A | K198N | 1.000 |
| 9:93952735:C:G | K198N | 1.000 |
| 9:93952736:T:A | K198M | 1.000 |
| 9:93952736:T:G | K198T | 1.000 |
| 9:93952737:T:C | K198E | 1.000 |
| 9:93952738:C:A | W197C | 1.000 |
| 9:93952738:C:G | W197C | 1.000 |
| 9:93952739:C:G | W197S | 1.000 |
| 9:93952740:A:G | W197R | 1.000 |
| 9:93952740:A:T | W197R | 1.000 |
| 9:93952741:C:A | K196N | 1.000 |
| 9:93952741:C:G | K196N | 1.000 |
| 9:93952743:T:C | K196E | 1.000 |
| 9:93952744:C:A | M195I | 1.000 |
| 9:93952744:C:G | M195I | 1.000 |
| 9:93952744:C:T | M195I | 1.000 |
| 9:93952745:A:C | M195R | 1.000 |
| 9:93952745:A:G | M195T | 1.000 |
| 9:93952745:A:T | M195K | 1.000 |
| 9:93952747:C:A | R194S | 1.000 |
| 9:93952747:C:G | R194S | 1.000 |
| 9:93952748:C:A | R194M | 1.000 |
| 9:93952748:C:G | R194T | 1.000 |
| 9:93952749:T:C | R194G | 1.000 |
| 9:93952751:C:A | R193L | 1.000 |
| 9:93952751:C:G | R193P | 1.000 |
| 9:93952752:G:A | R193W | 1.000 |
| 9:93952752:G:C | R193G | 1.000 |
| 9:93952753:A:C | N192K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000994459 (9:93956936 G>C), RS1001448225 (9:93952687 G>C), RS1001778056 (9:93956073 C>T), RS1002024232 (9:93954461 C>A,T), RS1002053091 (9:93954167 G>A,T), RS1002230320 (9:93955893 G>A), RS1002327458 (9:93951934 G>A,C), RS1002625329 (9:93956624 G>A,C), RS1003556739 (9:93951465 T>C), RS1003756282 (9:93951674 G>A,C), RS1005869802 (9:93953425 C>G,T), RS1006663608 (9:93952494 G>A,C), RS1006840477 (9:93952436 A>G), RS1007808291 (9:93953383 G>A), RS1008811561 (9:93955388 G>A,C)
Disease associations
OMIM: gene MIM:603260 | disease phenotypes: MIM:142400
GenCC curated gene-disease
Mondo (2): microcephaly (MONDO:0001149), hiatus hernia (MONDO:0007721)
Orphanet (0):
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0002036 | Hiatus hernia |
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002230_4 | Barrett’s esophagus | 5.000000e-06 |
| GCST002231_5 | Digestive system disease (Barrett’s esophagus and esophageal adenocarcinoma combined) | 1.000000e-09 |
| GCST002232_5 | Esophageal adenocarcinoma | 2.000000e-07 |
| GCST003059_16 | Parkinson’s disease | 1.000000e-06 |
| GCST006137_16 | Serum folate levels | 5.000000e-06 |
| GCST006288_482 | Heel bone mineral density | 9.000000e-06 |
| GCST006288_618 | Heel bone mineral density | 2.000000e-12 |
| GCST006288_741 | Heel bone mineral density | 1.000000e-07 |
| GCST012227_462 | Hip circumference adjusted for BMI | 1.000000e-08 |
| GCST012229_70 | Hip index | 5.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009270 | heel bone mineral density |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006551 | Hernia, Hiatal | C23.300.707.960.500.467 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| propionaldehyde | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| pentanal | increases expression | 1 |
| abrine | decreases 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 | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 1 |
| Asbestos, Amosite | decreases methylation | 1 |
| Particulate Matter | increases expression, increases abundance | 1 |
Clinical trials (associated diseases)
67 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00872755 | PHASE4 | COMPLETED | Nissen and Gastroplasty in Gastroesophageal Reflux Disease (GERD) |
| NCT02242526 | PHASE4 | UNKNOWN | Biologic Versus Synthetic Mesh for Treatment of Paraesophageal Hernia |
| NCT04936711 | PHASE4 | UNKNOWN | Pain Relief After Hiatal Hernia Repair Surgery |
| NCT05518188 | PHASE1/PHASE2 | RECRUITING | Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt) |
| NCT00001639 | Not specified | COMPLETED | Evaluation of Patients With Unresolved Chromosome Abnormalities |
| NCT01151462 | Not specified | WITHDRAWN | Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. |
| NCT01565005 | Not specified | COMPLETED | Microcephaly Genetic Deficiency in Neural Progenitors |
| NCT02510170 | Not specified | COMPLETED | Fetal and Maternal Head Circumference During Pregnancy in Israeli Population |
| NCT02741882 | Not specified | COMPLETED | Zika and Microcephaly: Case-control Study |
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| NCT01118585 | Not specified | COMPLETED | Transoral Incisionless Fundoplication (TIF) Registry Study for Treatment of Gastroesophageal Reflux Disease (GERD) |
| NCT01136980 | Not specified | COMPLETED | Randomized EsophyX Versus Sham / Placebo Controlled TIF Trial: The RESPECT Study |
| NCT01195545 | Not specified | COMPLETED | Veritas Laparoscopic Paraesophageal Hiatal Hernia (PEH) Repair Pilot Trial |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Barrett esophagus, digestive system disorder, esophageal adenocarcinoma, hiatus hernia