BEX1
gene geneOn this page
Summary
BEX1 (brain expressed X-linked 1, HGNC:1036) is a protein-coding gene on chromosome Xq22.1, encoding Protein BEX1 (Q9HBH7). Signaling adapter molecule involved in p75NTR/NGFR signaling.
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of DNA-binding transcription factor activity and positive regulation of transcription by RNA polymerase II. Part of transcription regulator complex.
Source: NCBI Gene 55859 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 31 total — 2 pathogenic
- MANE Select transcript:
NM_018476
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1036 |
| Approved symbol | BEX1 |
| Name | brain expressed X-linked 1 |
| Location | Xq22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000133169 |
| Ensembl biotype | protein_coding |
| OMIM | 300690 |
| Entrez | 55859 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 14 protein_coding
ENST00000372728, ENST00000885580, ENST00000885581, ENST00000885582, ENST00000885583, ENST00000885584, ENST00000933949, ENST00000933950, ENST00000933951, ENST00000933952, ENST00000933953, ENST00000933954, ENST00000933955, ENST00000953426
RefSeq mRNA: 1 — MANE Select: NM_018476
NM_018476
CCDS: CCDS35354
Canonical transcript exons
ENST00000372728 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001105455 | 103063642 | 103063731 |
| ENSE00001105457 | 103064096 | 103064171 |
| ENSE00001458479 | 103062651 | 103063279 |
Expression profiles
Bgee: expression breadth ubiquitous, 238 present calls, max score 99.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 139.5323 / max 7115.6011, expressed in 1095 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199979 | 138.8785 | 1094 |
| 199978 | 0.6538 | 206 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.96 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.90 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.89 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.72 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.62 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.57 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.56 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.54 | gold quality |
| occipital lobe | UBERON:0002021 | 99.54 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 99.54 | gold quality |
| frontal cortex | UBERON:0001870 | 99.53 | gold quality |
| pituitary gland | UBERON:0000007 | 99.52 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.51 | gold quality |
| hypothalamus | UBERON:0001898 | 99.48 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.48 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 99.48 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.47 | gold quality |
| cerebral cortex | UBERON:0000956 | 99.45 | gold quality |
| neocortex | UBERON:0001950 | 99.45 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.45 | gold quality |
| temporal lobe | UBERON:0001871 | 99.41 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.41 | gold quality |
| nucleus accumbens | UBERON:0001882 | 99.40 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.39 | gold quality |
| parietal lobe | UBERON:0001872 | 99.38 | gold quality |
| pons | UBERON:0000988 | 99.37 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.36 | gold quality |
| amygdala | UBERON:0001876 | 99.35 | gold quality |
| type B pancreatic cell | CL:0000169 | 99.34 | gold quality |
| forebrain | UBERON:0001890 | 99.34 | gold quality |
Single-cell (SCXA)
Detected in 24 experiment(s), a significant marker in 17.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 2949.50 |
| E-GEOD-124263 | yes | 2483.50 |
| E-MTAB-8271 | yes | 976.11 |
| E-MTAB-9435 | yes | 686.01 |
| E-MTAB-10662 | yes | 539.19 |
| E-MTAB-9906 | yes | 531.79 |
| E-MTAB-8381 | yes | 451.43 |
| E-HCAD-10 | yes | 385.92 |
| E-HCAD-35 | yes | 48.19 |
| E-HCAD-5 | yes | 42.99 |
| E-MTAB-7316 | yes | 42.20 |
| E-GEOD-84465 | yes | 23.34 |
| E-GEOD-81547 | yes | 21.45 |
| E-MTAB-5061 | yes | 10.75 |
| E-HCAD-25 | yes | 9.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
17 targeting BEX1, 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-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-18A-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-18B-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-133A-5P | 99.28 | 69.13 | 941 |
| HSA-MIR-4735-3P | 99.14 | 69.85 | 777 |
| HSA-MIR-12135 | 98.99 | 70.26 | 1814 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-8060 | 98.61 | 66.93 | 1187 |
| HSA-MIR-299-5P | 98.56 | 71.14 | 1140 |
| HSA-MIR-5581-3P | 98.55 | 70.31 | 1161 |
| HSA-MIR-6837-3P | 98.42 | 66.71 | 1149 |
| HSA-MIR-320E | 97.49 | 65.96 | 865 |
| HSA-MIR-6872-3P | 97.08 | 66.99 | 750 |
| HSA-MIR-600 | 97.07 | 66.73 | 1259 |
| HSA-MIR-10A-3P | 93.57 | 64.43 | 451 |
| HSA-MIR-662 | 90.64 | 62.72 | 148 |
Literature-anchored findings (GeneRIF, showing 15)
- This new human gene is mapped to the X chromosome and has an expression pattern of a spermatogenesis-related gene. (PMID:11989783)
- Two novel brain expressed genes, BEX1 and BEX2 are identified; they are silenced in all glioma specimens and exhibit extensive promoter hypermethylation. (PMID:16818640)
- expression of hBex1 in leukemic cells is a novel mechanism by which chemoresistance is achieved and suggests that hBex1 is a potential molecular target for the development of novel leukemia treatments (PMID:19028701)
- Silencing of BEX1 and LDOC1 by promoter hypermethylation might represent a critical event in the molecular pathogenesis of oral squamous cell carcinoma (OSCC) and the male predominance of OSCC occurrence. (PMID:23362108)
- Epigenetic inactivation of BEX1 supports its role as a candidate tumour suppressor gene in intracranial ependymoma (PMID:24333734)
- Our results revealed an interaction between BEX1 and BCL-2 and a novel mechanism of imatinib resistance mediated by the BEX1/BCL-2 pathway. (PMID:24626299)
- Bex family members play important roles in the formation of protein network hubs. (PMID:25612294)
- loss of BEX1 expression in FLT3-ITD driven AML potentiates oncogenic signaling and leads to decreased overall survival (PMID:26046670)
- BEX1 functions as an mRNA-dependent effector that augments pathology-promoting gene expression during heart failure. (PMID:29192139)
- BEX1 was downregulated in esophageal squamous cell cancer (ESCC) tissues compared to adjacent normal tissues, and low BEX1 expression was significantly associated with larger tumor volume, advanced clinical, and poor survival in patients with ESCC. (PMID:30132532)
- BEX1 Is Differentially Expressed in Aldosterone-Producing Adenomas and Protects Human Adrenocortical Cells From Ferroptosis. (PMID:33745298)
- DNMT1-mediated methylation of BEX1 regulates stemness and tumorigenicity in liver cancer. (PMID:34217777)
- BEX1 and BEX4 Induce GBM Progression through Regulation of Actin Polymerization and Activation of YAP/TAZ Signaling. (PMID:34576008)
- BEX1 mediates sorafenib resistance in hepatocellular carcinoma by regulating AKT signaling. (PMID:37209973)
- BEX1 supports the stemness of hepatoblastoma by facilitating Warburg effect in a PPARgamma/PDK1 dependent manner. (PMID:37715024)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Bex2 | ENSMUSG00000042750 |
| mus_musculus | Bex1 | ENSMUSG00000050071 |
| rattus_norvegicus | Bex2 | ENSRNOG00000032729 |
| rattus_norvegicus | LOC100912195 | ENSRNOG00000033844 |
| rattus_norvegicus | ENSRNOG00000082512 |
Paralogs (3): BEX2 (ENSG00000133134), BEX3 (ENSG00000166681), BEX5 (ENSG00000184515)
Protein
Protein identifiers
Protein BEX1 — Q9HBH7 (reviewed: Q9HBH7)
Alternative names: Brain-expressed X-linked protein 1
All UniProt accessions (1): Q9HBH7
UniProt curated annotations — full annotation on UniProt →
Function. Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states. In absence of reductive stress, acts as a pseudosubstrate for the CRL2(FEM1B) complex: associates with FEM1B via zinc, thereby preventing association between FEM1B and its substrates.
Subunit / interactions. Interacts with neurotrophin receptor p75NTR/NGFR. Interacts with OMP.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in central nervous system, with high level in pituitary, cerebellum and temporal lobe. Expressed in lung, skeletal muscle, peripheral blood leukocyte, stomach, lymph node, trachea and bone marrow. Highly expressed in acute myeloid leukemia.
Post-translational modifications. Phosphorylated. Phosphorylation of Ser-102 protects it from the proteasome. Ubiquitinated. Degraded by the proteasome.
Domain organisation. The histidine cluster (His cluster) and Cys-122 mediate zinc-binding.
Similarity. Belongs to the BEX family.
RefSeq proteins (1): NP_060946* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007623 | BEX | Family |
| IPR021156 | TF_A-like/BEX | Family |
Pfam: PF04538
UniProt features (17 total): sequence variant 7, region of interest 3, sequence conflict 3, chain 1, compositionally biased region 1, binding site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HBH7-F1 | 68.10 | 0.10 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 122
Post-translational modifications (1): 102
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 220 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_151, LA_MEN1_TARGETS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, BORLAK_LIVER_CANCER_EGF_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, KHETCHOUMIAN_TRIM24_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, CAIRO_HEPATOBLASTOMA_UP, AFFAR_YY1_TARGETS_UP, PID_P75_NTR_PATHWAY
GO Biological Process (5): signal transduction (GO:0007165), nervous system development (GO:0007399), cell differentiation (GO:0030154), negative regulation of protein ubiquitination (GO:0031397), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (6): transcription coactivator binding (GO:0001223), signaling receptor binding (GO:0005102), signaling adaptor activity (GO:0035591), metal ion binding (GO:0046872), molecular function inhibitor activity (GO:0140678), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| system development | 1 |
| cellular developmental process | 1 |
| protein ubiquitination | 1 |
| regulation of protein ubiquitination | 1 |
| negative regulation of protein modification by small protein conjugation or removal | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transcription coregulator binding | 1 |
| protein binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| cation binding | 1 |
| molecular function regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
848 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BEX1 | LMO2 | P25791 | 895 |
| BEX1 | LDB2 | O43679 | 875 |
| BEX1 | LDB1 | Q86U70 | 868 |
| BEX1 | NHLH2 | Q02577 | 833 |
| BEX1 | CALML6 | Q8TD86 | 748 |
| BEX1 | CALML3 | P27482 | 748 |
| BEX1 | CALML4 | Q96GE6 | 748 |
| BEX1 | CALML5 | Q9NZT1 | 748 |
| BEX1 | CALM1 | P02593 | 667 |
| BEX1 | TCEAL5 | Q5H9L2 | 644 |
| BEX1 | TCEAL3 | Q969E4 | 641 |
| BEX1 | OMP | P47874 | 583 |
| BEX1 | NGFR | P08138 | 516 |
| BEX1 | NGF | P01138 | 506 |
| BEX1 | GPRASP1 | Q5JY77 | 493 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BEX1 | MDFI | psi-mi:“MI:0915”(physical association) | 0.720 |
| MDFI | BEX1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TEX11 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEX1 | TEX11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNOT2 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTAG1A | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEX1 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEA2 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTP | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL20 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEX1 | CNOT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT31 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEX1 | PTPN11 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GSK3B | BEX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BEX1 | BAG4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BCAR3 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BEX1 | CASP8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDH1 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHEK2 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BEX1 | FBXW7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FGFR2 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PAX2 | BEX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PIK3CA | BEX1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (55): BEX1 (Two-hybrid), TEX11 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid), BEX1 (Two-hybrid)
ESM2 similar proteins: A0A1B0GVZ2, A0A2B4SJZ1, A3KGA4, B0BK70, D3ZT37, O55527, O74982, P03246, P03247, P03407, P04602, P04862, P05860, P05909, P06747, P0C569, P0C783, P12479, P14253, P15829, P16286, P19032, P20885, P22385, P22745, P24103, P31278, P69479, P69480, P69738, Q0GBX8, Q2PG52, Q2TBV0, Q38036, Q4VKV7, Q6I7R5, Q6W0C5, Q82855, Q873B8, Q89868
Diamond homologs: Q00994, Q2PG52, Q2TBV0, Q3MKP9, Q3MKQ1, Q3MKQ2, Q3ZBJ6, Q3ZBJ9, Q5H9J7, Q5R590, Q6PDU5, Q9BXY8, Q9CWT2, Q9HBH7, Q9NWD9, Q9R224, Q9WTZ8, Q9WTZ9, Q3TZW7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKT | “up-regulates quantity by stabilization” | BEX1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 686068 | GRCh37/hg19 Xq22.1(chrX:100868897-102422345)x1 | Pathogenic |
| 691848 | GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1 | Pathogenic |
SpliceAI
176 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:103063275:TACTC:T | acceptor_gain | 1.0000 |
| X:103063277:CTC:C | acceptor_gain | 1.0000 |
| X:103063278:TCC:T | acceptor_loss | 1.0000 |
| X:103063280:C:CC | acceptor_gain | 1.0000 |
| X:103063281:T:C | acceptor_loss | 1.0000 |
| X:103064090:CCTTA:C | donor_loss | 1.0000 |
| X:103064091:CTTA:C | donor_loss | 1.0000 |
| X:103064092:TTA:T | donor_loss | 1.0000 |
| X:103064093:TA:T | donor_loss | 1.0000 |
| X:103064094:A:AT | donor_loss | 1.0000 |
| X:103064095:C:A | donor_loss | 1.0000 |
| X:103063278:TC:T | acceptor_gain | 0.9900 |
| X:103063279:CC:C | acceptor_gain | 0.9900 |
| X:103063288:C:CT | acceptor_gain | 0.9900 |
| X:103063639:GACCT:G | donor_loss | 0.9900 |
| X:103063289:A:T | acceptor_gain | 0.9800 |
| X:103063650:AT:A | donor_gain | 0.9800 |
| X:103063728:AGGG:A | acceptor_gain | 0.9800 |
| X:103063651:T:TA | donor_gain | 0.9700 |
| X:103063729:GGG:G | acceptor_gain | 0.9700 |
| X:103063727:AAGGG:A | acceptor_gain | 0.9600 |
| X:103063730:GG:G | acceptor_gain | 0.9600 |
| X:103063640:A:AC | donor_gain | 0.9500 |
| X:103063641:C:CC | donor_gain | 0.9500 |
| X:103063873:T:TA | donor_gain | 0.9500 |
| X:103064094:A:AC | donor_gain | 0.9500 |
| X:103064095:C:CC | donor_gain | 0.9500 |
| X:103063665:T:TA | donor_gain | 0.9400 |
| X:103063280:C:T | acceptor_gain | 0.9300 |
| X:103063728:AGGGC:A | acceptor_loss | 0.9200 |
AlphaMissense
847 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:103062912:A:C | F121L | 0.994 |
| X:103062912:A:T | F121L | 0.994 |
| X:103062914:A:G | F121L | 0.994 |
| X:103062901:G:T | P125H | 0.962 |
| X:103062913:A:C | F121C | 0.962 |
| X:103062913:A:G | F121S | 0.961 |
| X:103062904:A:G | M124T | 0.948 |
| X:103062948:G:C | S109R | 0.945 |
| X:103062948:G:T | S109R | 0.945 |
| X:103062950:T:G | S109R | 0.945 |
| X:103062902:G:A | P125S | 0.944 |
| X:103062901:G:C | P125R | 0.940 |
| X:103062907:A:G | L123P | 0.937 |
| X:103063000:A:G | L92P | 0.937 |
| X:103062907:A:T | L123H | 0.935 |
| X:103062911:A:G | C122R | 0.932 |
| X:103062909:G:C | C122W | 0.928 |
| X:103062902:G:T | P125T | 0.927 |
| X:103062988:A:G | L96P | 0.925 |
| X:103062963:A:C | S104R | 0.924 |
| X:103062963:A:T | S104R | 0.924 |
| X:103062965:T:G | S104R | 0.924 |
| X:103062901:G:A | P125L | 0.906 |
| X:103062952:A:T | V108D | 0.899 |
| X:103062914:A:C | F121V | 0.889 |
| X:103062914:A:T | F121I | 0.866 |
| X:103062903:C:A | M124I | 0.865 |
| X:103062903:C:G | M124I | 0.865 |
| X:103062903:C:T | M124I | 0.865 |
| X:103062907:A:C | L123R | 0.854 |
dbSNP variants (sampled 300 via entrez): RS1002587678 (X:103065226 A>G), RS1003066320 (X:103064931 A>C,G), RS1003210186 (X:103065487 C>G), RS1005166888 (X:103063762 C>A,T), RS1005835002 (X:103064815 A>C), RS1005890355 (X:103064272 C>A,T), RS1007055909 (X:103066071 G>A,C,T), RS1007109761 (X:103065914 C>T), RS1007383678 (X:103064168 G>A,C), RS1007443501 (X:103063922 G>C), RS1007658046 (X:103062193 C>A), RS1009762775 (X:103062502 T>G), RS1010403971 (X:103065272 C>T), RS1010737624 (X:103063591 G>T), RS1011400905 (X:103065432 C>A)
Disease associations
OMIM: gene MIM:300690 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| bisphenol A | decreases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | affects methylation, increases expression, decreases reaction | 3 |
| Ethanol | affects cotreatment, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| chlorophyllin | decreases reaction, increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| bisphenol S | decreases expression, affects cotreatment | 1 |
| NSC 689534 | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Dexamethasone | decreases expression, affects cotreatment | 1 |
| Doxorubicin | increases expression | 1 |
| Folic Acid | decreases expression, affects cotreatment | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Mustard Gas | increases 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.