BEND3
gene geneOn this page
Summary
BEND3 (BEN domain containing 3, HGNC:23040) is a protein-coding gene on chromosome 6q21, encoding BEN domain-containing protein 3 (Q5T5X7). Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription.
Enables rDNA binding activity. Involved in negative regulation of macromolecule biosynthetic process; positive regulation of ATP metabolic process; and protein homooligomerization. Located in heterochromatin; nucleolus; and nucleoplasm.
Source: NCBI Gene 57673 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 121 total — 1 pathogenic
- Phenotypes (HPO): 1
- Druggable target: yes
- MANE Select transcript:
NM_001367314
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23040 |
| Approved symbol | BEND3 |
| Name | BEN domain containing 3 |
| Location | 6q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000178409 |
| Ensembl biotype | protein_coding |
| OMIM | 616374 |
| Entrez | 57673 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 16 protein_coding
ENST00000369042, ENST00000429433, ENST00000905465, ENST00000928358, ENST00000928359, ENST00000928360, ENST00000928361, ENST00000928362, ENST00000928363, ENST00000928364, ENST00000928365, ENST00000928366, ENST00000928367, ENST00000928368, ENST00000928369, ENST00000943403
RefSeq mRNA: 2 — MANE Select: NM_001367314
NM_001080450, NM_001367314
CCDS: CCDS34507
Canonical transcript exons
ENST00000369042 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001448687 | 107065182 | 107070950 |
| ENSE00001448688 | 107098551 | 107098753 |
| ENSE00001448689 | 107099249 | 107099296 |
| ENSE00001448690 | 107115090 | 107115515 |
Expression profiles
Bgee: expression breadth ubiquitous, 190 present calls, max score 87.67.
FANTOM5 (CAGE): breadth broad, TPM avg 0.9297 / max 22.2995, expressed in 451 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 74921 | 0.4560 | 273 |
| 204141 | 0.2477 | 117 |
| 74920 | 0.2261 | 111 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 87.67 | gold quality |
| tibialis anterior | UBERON:0001385 | 87.02 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 82.73 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.64 | gold quality |
| pancreatic ductal cell | CL:0002079 | 81.15 | silver quality |
| nasal cavity epithelium | UBERON:0005384 | 79.49 | gold quality |
| secondary oocyte | CL:0000655 | 79.37 | gold quality |
| endothelial cell | CL:0000115 | 78.18 | silver quality |
| ventricular zone | UBERON:0003053 | 78.17 | gold quality |
| deltoid | UBERON:0001476 | 77.38 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 76.58 | gold quality |
| ganglionic eminence | UBERON:0004023 | 76.44 | gold quality |
| tibia | UBERON:0000979 | 76.30 | gold quality |
| cortical plate | UBERON:0005343 | 75.20 | gold quality |
| oviduct epithelium | UBERON:0004804 | 74.56 | gold quality |
| colonic mucosa | UBERON:0000317 | 74.25 | gold quality |
| oocyte | CL:0000023 | 74.21 | gold quality |
| cauda epididymis | UBERON:0004360 | 73.99 | gold quality |
| corpus epididymis | UBERON:0004359 | 73.65 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 73.64 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 73.64 | silver quality |
| gingival epithelium | UBERON:0001949 | 72.95 | silver quality |
| gingiva | UBERON:0001828 | 72.84 | silver quality |
| visceral pleura | UBERON:0002401 | 72.78 | silver quality |
| germinal epithelium of ovary | UBERON:0001304 | 72.74 | silver quality |
| buccal mucosa cell | CL:0002336 | 72.50 | gold quality |
| cartilage tissue | UBERON:0002418 | 71.95 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 71.95 | gold quality |
| kidney epithelium | UBERON:0004819 | 71.86 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 71.74 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.62 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 8)
- associates with heterochromatin and represses transcription (PMID:21914818)
- Three basic amino acid residues located in the N-terminal region of BEND3 (BEND356-58, KRK) are essential for its nuclear localization, suggesting that these residues play a role as a functional nuclear localization signals. (PMID:25600804)
- Data show that SUMOylated BANP, E5R, and Nac1 (BEN) domain 3 (BEND3) stabilizes NoRC component TTF-1-interacting protein 5 (Tip5)via association with ubiquitin specific protease 21 (USP21) debiquitinase. (PMID:26100909)
- propose that there is a link between binding of BEND3 to the CALR rs138452745 C-allele and removal of NFI binding site from this nucleotide, and the evolution of human-specific higher brain functions (PMID:26481236)
- Data shows that BEND3 associates with chromatin remodeling complexes to modulate gene expression and heterochromatin organization. (PMID:26507581)
- Characterization of the NTPR and BD1 interacting domains of the human PICH-BEND3 complex has been reported. (PMID:27487930)
- Data indicate BEND3 as a new interaction partner for PICH in mitosis, and have defined the residues within a TPR-BEN domain interface that mediate this interaction. (PMID:28977671)
- BEND3 safeguards pluripotency by repressing differentiation-associated genes. (PMID:35217604)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bend3 | ENSDARG00000076903 |
| mus_musculus | Bend3 | ENSMUSG00000038214 |
| rattus_norvegicus | Bend3 | ENSRNOG00000046505 |
Protein
Protein identifiers
BEN domain-containing protein 3 — Q5T5X7 (reviewed: Q5T5X7)
All UniProt accessions (1): Q5T5X7
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by controlling its USP21-mediated deubiquitination. Binds to unmethylated major satellite DNA and is involved in the recruitment of the Polycomb repressive complex 2 (PRC2) to major satellites. Stimulates the ERCC6L translocase and ATPase activities.
Subunit / interactions. Homooligomer, probably a homooctamer. Interacts with HDAC2 and HDAC3, but not HDAC1. Interacts with SALL4. Interacts with SMARCA5/SNF2H, BAZ2A/TIP5 and USP21. Interacts with the nucleosome remodeling and histone deacetylase (NuRD) repressor complex. Interacts (via BEN domains 1 and 3) with ERCC6L (via N-terminal TPR repeat); the interaction is direct.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Expressed at least in heart, kidney, liver, ovary and spleen, with highest levels in spleen and lowest in heart. Expressed on the surface of T-cells.
Post-translational modifications. Sumoylated at Lys-20 by SUMO1 and at Lys-512 by SUMO1, SUMO2 and SUMO3. Sumoylation probably occurs sequentially, with that of Lys-20 preceding that of Lys-512. It does not alter association with heterochromatin, but is required for the repression of transcription.
Domain organisation. The BEN domain 4 is necessary and sufficient for the localization of BEND3 to heterochromatic regions.
RefSeq proteins (2): NP_001073919, NP_001354243* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018379 | BEN_domain | Domain |
| IPR033583 | BEND3 | Family |
Pfam: PF10523
UniProt features (54 total): cross-link 18, helix 16, mutagenesis site 5, domain 4, modified residue 3, sequence conflict 2, region of interest 2, chain 1, strand 1, turn 1, short sequence motif 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7W27 | X-RAY DIFFRACTION | 1.49 |
| 5JNO | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T5X7-F1 | 65.11 | 0.21 |
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 (21): 489, 20, 20, 20, 41, 56, 58, 73, 128, 129, 137, 142, 158, 176, 427, 512, 512, 528, 700, 164 …
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 20 | partial loss of sumoylation. almost complete loss of sumoylation, partial loss of transcription repression, no effect on |
| 56 | loss of nuclear localization. |
| 57 | loss of nuclear localization. |
| 58 | loss of nuclear localization. |
| 512 | partial loss of sumoylation. almost complete loss of sumoylation, partial loss of transcription repression, no effect on |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_DNA_METHYLATION_DEPENDENT_CONSTITUTIVE_HETEROCHROMATIN_FORMATION, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOBP_NUCLEUS_ORGANIZATION, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_PROTEIN_HOMOOLIGOMERIZATION, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, GOBP_REGULATION_OF_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_CHROMATIN_REMODELING, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), rDNA heterochromatin formation (GO:0000183), DNA methylation-dependent constitutive heterochromatin formation (GO:0006346), protein homooligomerization (GO:0051260), positive regulation of ATP metabolic process (GO:1903580), chromatin organization (GO:0006325)
GO Molecular Function (3): rDNA binding (GO:0000182), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (4): heterochromatin (GO:0000792), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| facultative heterochromatin formation | 1 |
| nucleolar chromatin organization | 1 |
| constitutive heterochromatin formation | 1 |
| protein complex oligomerization | 1 |
| ATP metabolic process | 1 |
| positive regulation of purine nucleotide metabolic process | 1 |
| regulation of ATP metabolic process | 1 |
| cellular component organization | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromatin | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
616 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BEND3 | CLDN5 | O00501 | 577 |
| BEND3 | NACC2 | Q96BF6 | 463 |
| BEND3 | TJP1 | Q07157 | 447 |
| BEND3 | OCLN | Q16625 | 444 |
| BEND3 | RTN4IP1 | Q8WWV3 | 425 |
| BEND3 | ZBTB10 | Q96DT7 | 423 |
| BEND3 | BEND5 | Q7L4P6 | 421 |
| BEND3 | BANP | Q8N9N5 | 415 |
| BEND3 | APCDD1 | Q8J025 | 407 |
| BEND3 | DEFB1 | P60022 | 403 |
| BEND3 | SCML4 | Q8N228 | 395 |
| BEND3 | MLEC | Q14165 | 394 |
| BEND3 | MORC3 | Q14149 | 387 |
| BEND3 | NACC1 | Q96RE7 | 374 |
| BEND3 | ZBTB4 | Q9P1Z0 | 372 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MORN4 | BEND3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| BEND3 | MORN4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOXC9 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM161A | BEND3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEND3 | FAM161A | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEND3 | MCRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEND3 | DPY30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBTFL1 | BEND3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXP3 | FOXP2 | psi-mi:“MI:0914”(association) | 0.530 |
| TRPS1 | MTA2 | psi-mi:“MI:0914”(association) | 0.530 |
| BEND3 | PDIA6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BEND3 | BEND3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Cenpf | RANBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| Septin11 | SEPTIN10 | psi-mi:“MI:0914”(association) | 0.350 |
| CFAP97 | CSNK2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| NFATC1 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.350 |
| NS1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF785 | CASK | psi-mi:“MI:0914”(association) | 0.350 |
| MAP7D2 | ECI2 | psi-mi:“MI:0914”(association) | 0.350 |
| USP21 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.350 |
| IMMP2L | ANKHD1-EIF4EBP3 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| GRHL1 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (144): BEND3 (Two-hybrid), FAM161A (Two-hybrid), MORN4 (Two-hybrid), BEND3 (Affinity Capture-MS), BEND3 (Affinity Capture-MS), BEND3 (Affinity Capture-MS), BEND3 (Affinity Capture-MS), BEND3 (Affinity Capture-MS), BAZ2A (Affinity Capture-Western), BEND3 (Affinity Capture-Western), SMARCA5 (Affinity Capture-Western), BEND3 (Affinity Capture-Western), USP21 (Affinity Capture-Western), BEND3 (Affinity Capture-MS), BEND3 (Affinity Capture-MS)
ESM2 similar proteins: A0JN76, A2A5N8, A4IFA3, A4IGY9, D2EAC2, D3ZWK4, E1C2V1, O15060, O60290, O70445, O75132, P86452, Q08C99, Q0IJ29, Q13075, Q3UPF5, Q5BIW4, Q5T5X7, Q5T7W0, Q5TKR9, Q6DJS0, Q6EKJ0, Q6NRM8, Q6PAL0, Q6YI93, Q7Z2W4, Q7ZWZ4, Q801P1, Q80WQ9, Q80YY7, Q86UP8, Q8BZ21, Q8C4P0, Q8CFL8, Q8N8K9, Q8NCP5, Q8WML3, Q92794, Q96MP5, Q96Q42
Diamond homologs: Q5T5X7, Q6PAL0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 98 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SUMOylation of chromatin organization proteins | 5 | 12.4× | 5e-03 |
| SUMOylation of DNA damage response and repair proteins | 5 | 11.4× | 5e-03 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 5 | 11.4× | 5e-03 |
| DNA Repair | 6 | 9.2× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chromatin remodeling | 9 | 7.6× | 6e-04 |
| transcription by RNA polymerase II | 8 | 6.6× | 4e-03 |
| DNA damage response | 9 | 5.6× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 106 |
| Likely benign | 6 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1047881 | GRCh37/hg19 6q21(chr6:107331934-108121759) | Pathogenic |
SpliceAI
864 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:107098545:CCTCA:C | donor_loss | 1.0000 |
| 6:107098546:CTCAC:C | donor_loss | 1.0000 |
| 6:107098547:TCA:T | donor_loss | 1.0000 |
| 6:107098548:CACC:C | donor_loss | 1.0000 |
| 6:107098549:A:AC | donor_gain | 1.0000 |
| 6:107098550:C:CC | donor_gain | 1.0000 |
| 6:107098550:C:CT | donor_loss | 1.0000 |
| 6:107098550:CCT:C | donor_gain | 1.0000 |
| 6:107098568:T:TA | donor_gain | 1.0000 |
| 6:107098749:TAGAA:T | acceptor_gain | 1.0000 |
| 6:107098750:AGAA:A | acceptor_gain | 1.0000 |
| 6:107098751:GAA:G | acceptor_gain | 1.0000 |
| 6:107098752:AA:A | acceptor_gain | 1.0000 |
| 6:107098752:AAC:A | acceptor_loss | 1.0000 |
| 6:107098753:ACT:A | acceptor_loss | 1.0000 |
| 6:107098754:C:CC | acceptor_gain | 1.0000 |
| 6:107098756:G:C | acceptor_gain | 1.0000 |
| 6:107098756:G:GC | acceptor_gain | 1.0000 |
| 6:107098760:C:CT | acceptor_gain | 1.0000 |
| 6:107099243:TTTTA:T | donor_loss | 1.0000 |
| 6:107099244:TTTAC:T | donor_loss | 1.0000 |
| 6:107099245:TTAC:T | donor_loss | 1.0000 |
| 6:107099246:TACC:T | donor_loss | 1.0000 |
| 6:107099247:A:C | donor_loss | 1.0000 |
| 6:107099248:CCTT:C | donor_gain | 1.0000 |
| 6:107099292:TTCCG:T | acceptor_gain | 1.0000 |
| 6:107099294:CCG:C | acceptor_gain | 1.0000 |
| 6:107099295:CG:C | acceptor_gain | 1.0000 |
| 6:107099295:CGC:C | acceptor_gain | 1.0000 |
| 6:107099297:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
5470 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:107068749:C:A | R814S | 1.000 |
| 6:107068749:C:G | R814S | 1.000 |
| 6:107068750:C:A | R814M | 1.000 |
| 6:107068750:C:G | R814T | 1.000 |
| 6:107068760:G:T | R811S | 1.000 |
| 6:107068762:C:G | R810P | 1.000 |
| 6:107068763:G:T | R810S | 1.000 |
| 6:107068764:G:C | C809W | 1.000 |
| 6:107068765:C:T | C809Y | 1.000 |
| 6:107068766:A:G | C809R | 1.000 |
| 6:107068767:C:A | R808S | 1.000 |
| 6:107068767:C:G | R808S | 1.000 |
| 6:107068768:C:A | R808M | 1.000 |
| 6:107068770:C:A | E807D | 1.000 |
| 6:107068770:C:G | E807D | 1.000 |
| 6:107068771:T:A | E807V | 1.000 |
| 6:107068771:T:G | E807A | 1.000 |
| 6:107068772:C:T | E807K | 1.000 |
| 6:107068774:T:A | D806V | 1.000 |
| 6:107068774:T:C | D806G | 1.000 |
| 6:107068774:T:G | D806A | 1.000 |
| 6:107068775:C:A | D806Y | 1.000 |
| 6:107068775:C:G | D806H | 1.000 |
| 6:107068777:A:C | I805S | 1.000 |
| 6:107068777:A:T | I805N | 1.000 |
| 6:107068779:G:C | S804R | 1.000 |
| 6:107068779:G:T | S804R | 1.000 |
| 6:107068781:T:G | S804R | 1.000 |
| 6:107068788:A:C | C801W | 1.000 |
| 6:107068790:A:G | C801R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000026691 (6:107094391 G>A,C,T), RS1000243690 (6:107100839 G>T), RS1000364027 (6:107076863 C>T), RS1000487326 (6:107071199 C>T), RS1000551399 (6:107110896 G>A), RS1000604681 (6:107071460 C>A,T), RS1000704111 (6:107105632 A>T), RS1000917125 (6:107092958 C>T), RS1001029654 (6:107093223 G>A), RS1001047965 (6:107111069 G>T), RS1001240972 (6:107087098 G>A), RS1001243143 (6:107082125 T>G), RS1001298588 (6:107081799 A>G), RS1001446405 (6:107115903 G>C), RS1001485069 (6:107075848 T>G)
Disease associations
OMIM: gene MIM:616374 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003014_7 | Postprandial triglyceride response to high fat diet meal | 4.000000e-07 |
| GCST004609_75 | Monocyte percentage of white cells | 1.000000e-11 |
| GCST006702_7 | Parental longevity (combined parental age at death) | 4.000000e-08 |
| GCST009379_56 | Type 2 diabetes | 8.000000e-09 |
| GCST010244_428 | Triglyceride levels | 1.000000e-09 |
| GCST010702_55 | Subcortical volume (MOSTest) | 4.000000e-12 |
| GCST010703_326 | Brain morphology (MOSTest) | 1.000000e-10 |
| GCST90002388_99 | Lymphocyte count | 5.000000e-26 |
| GCST90002389_329 | Lymphocyte percentage of white cells | 3.000000e-25 |
| GCST90002396_331 | Mean reticulocyte volume | 3.000000e-28 |
| GCST90002397_471 | Mean spheric corpuscular volume | 1.000000e-14 |
| GCST90002399_300 | Neutrophil percentage of white cells | 1.000000e-15 |
| GCST90002405_200 | Reticulocyte count | 5.000000e-12 |
| GCST90002406_219 | Reticulocyte fraction of red cells | 3.000000e-10 |
| GCST90020026_136 | Hip index | 6.000000e-09 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007681 | triglyceride change measurement |
| EFO:0007684 | response to high fat food intake |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0007796 | parental longevity |
| EFO:0004530 | triglyceride measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0010701 | mean reticulocyte volume |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0007986 | reticulocyte count |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724790 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases methylation, affects expression | 5 |
| (+)-JQ1 compound | decreases expression | 3 |
| Estradiol | increases expression | 3 |
| bisphenol A | increases expression, increases methylation | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697533 | Binding | Inhibition of BEND3 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SF12 | HAP1 BEND3 (-) 1 | Cancer cell line | Male |
| CVCL_SF13 | HAP1 BEND3 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.