BAIAP2
gene geneOn this page
Also known as BAP2IRSp53WAML
Summary
BAIAP2 (BAR/IMD domain containing adaptor protein 2, HGNC:947) is a protein-coding gene on chromosome 17q25.3, encoding BAR/IMD domain-containing adapter protein 2 (Q9UQB8). Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins.
The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 10458 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 128 total — 7 pathogenic
- Phenotypes (HPO): 43
- MANE Select transcript:
NM_001144888
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:947 |
| Approved symbol | BAIAP2 |
| Name | BAR/IMD domain containing adaptor protein 2 |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BAP2, IRSp53, WAML |
| Ensembl gene | ENSG00000175866 |
| Ensembl biotype | protein_coding |
| OMIM | 605475 |
| Entrez | 10458 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 19 protein_coding, 6 protein_coding_CDS_not_defined, 4 retained_intron, 3 nonsense_mediated_decay
ENST00000321280, ENST00000321300, ENST00000416299, ENST00000428708, ENST00000435091, ENST00000570913, ENST00000571530, ENST00000572073, ENST00000572329, ENST00000572498, ENST00000572918, ENST00000573017, ENST00000573659, ENST00000573677, ENST00000573894, ENST00000574027, ENST00000574688, ENST00000574804, ENST00000575245, ENST00000575712, ENST00000575750, ENST00000575841, ENST00000575958, ENST00000575989, ENST00000576225, ENST00000576364, ENST00000576470, ENST00000576756, ENST00000576995, ENST00000577097, ENST00000892758, ENST00000892759
RefSeq mRNA: 35 — MANE Select: NM_001144888
NM_001144888, NM_001385127, NM_001385128, NM_001385129, NM_001385130, NM_001385131, NM_001385132, NM_001385133, NM_001385134, NM_001385135, NM_001385136, NM_001385137, NM_001385138, NM_001385139, NM_001385140, NM_001385141, NM_001385144, NM_001385145, NM_001385146, NM_001385147, NM_001385148, NM_001385149, NM_001385150, NM_001385151, NM_001385152, NM_001385153, NM_001385154, NM_001385155, NM_001385156, NM_001385157, NM_001385158, NM_001385159, NM_006340, NM_017450, NM_017451
CCDS: CCDS11775, CCDS11776, CCDS11777, CCDS45806, CCDS92414
Canonical transcript exons
ENST00000428708 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003466896 | 81106078 | 81106146 |
| ENSE00003479422 | 81084832 | 81084893 |
| ENSE00003497796 | 81115770 | 81117434 |
| ENSE00003514272 | 81106745 | 81106907 |
| ENSE00003516981 | 81103907 | 81104108 |
| ENSE00003523082 | 81057881 | 81057967 |
| ENSE00003530857 | 81035151 | 81035308 |
| ENSE00003538981 | 81085654 | 81085725 |
| ENSE00003549369 | 81086443 | 81086580 |
| ENSE00003563807 | 81104514 | 81104715 |
| ENSE00003581261 | 81108475 | 81108509 |
| ENSE00003608451 | 81053668 | 81053743 |
| ENSE00003657546 | 81099928 | 81100080 |
| ENSE00003693124 | 81103502 | 81103723 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.5618 / max 873.6556, expressed in 1770 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163284 | 24.1979 | 1760 |
| 163292 | 1.1874 | 632 |
| 163293 | 1.1603 | 620 |
| 163286 | 0.2218 | 69 |
| 163296 | 0.1918 | 86 |
| 163295 | 0.1317 | 55 |
| 163297 | 0.1049 | 38 |
| 163287 | 0.1044 | 46 |
| 163294 | 0.0782 | 44 |
| 163290 | 0.0733 | 31 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 10 | UBERON:0013541 | 99.12 | gold quality |
| frontal pole | UBERON:0002795 | 99.10 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.50 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 98.42 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.26 | gold quality |
| skin of abdomen | UBERON:0001416 | 98.06 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.98 | gold quality |
| skin of leg | UBERON:0001511 | 97.96 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.95 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.53 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.30 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.27 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.24 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.98 | gold quality |
| right lung | UBERON:0002167 | 96.95 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.94 | gold quality |
| oocyte | CL:0000023 | 96.89 | gold quality |
| putamen | UBERON:0001874 | 96.79 | gold quality |
| paraflocculus | UBERON:0005351 | 96.73 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.57 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.49 | gold quality |
| amygdala | UBERON:0001876 | 96.46 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.44 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.39 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.29 | gold quality |
| neocortex | UBERON:0001950 | 96.25 | gold quality |
| right uterine tube | UBERON:0001302 | 96.24 | gold quality |
| frontal cortex | UBERON:0001870 | 96.17 | gold quality |
| sural nerve | UBERON:0015488 | 96.17 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
50 targeting BAIAP2, 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-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-6740-3P | 99.48 | 68.49 | 1392 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-940 | 99.37 | 66.14 | 2064 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
Literature-anchored findings (GeneRIF, showing 40)
- LIN7B is a partner of IRSp53 anchoring the actin-based membrane cytoskeleton at cell-cell contacts. (PMID:14596909)
- IRSp53, when activated by small GTPases, participates in F-actin reorganization not only in an SH3-dependent manner but also in a manner dependent on the activity of the IRSp53/MIM homology domain (PMID:14752106)
- IRSp53 comprises a central SH3 domain, which binds to proline-rich regions of a wide range of actin regulators, and a conserved N-terminal IRSp53/MIM homology domain that harbours F-actin-bundling activity. Presents crystal structure of this novel domain (PMID:15635447)
- These results suggest that PSD-95 interaction is an important determinant of synaptic IRSp53 localization and that the SH3 domain of IRSp53 links activated Rac1/Cdc42 to downstream effectors for the regulation of spine morphogenesis. (PMID:15673667)
- Therefore, IRSp53 optimizes the activity of the WAVE2 complex in the presence of activated Rac and PIP(3). (PMID:16702231)
- The mechanism of membrane deforamtion induced by the IRSp53 RCB domain is reported. (PMID:17003044)
- These results support a model whereby the synergic bundling activity of the IRSp53-Eps8 complex, regulated by Cdc42, contributes to the generation of actin bundles, thus promoting filopodial protrusions. (PMID:17115031)
- Together, these data reveal that interplay between actin dynamics and a novel membrane-deformation activity promotes cell motility and morphogenesis. (PMID:17371834)
- tyrosine 310 as a primary site of tyrosine phosphorylation in response to insulin signalling and we have shown that although IRSp53 is tyrosine phosphorylated in response to epidermal growth factor receptor signalling, tyrosine 310 is not crucial. (PMID:18417251)
- LIN7-IRSp53 association plays a role during assembly of functional tight junctions and surface polarization in epithelial cells (PMID:19054385)
- Both spatial learning and novel object recognition are impaired in transgenic mice deficient of IRSp53 expression. (PMID:19193906)
- The authors show that IRSp53 family members, key regulators of membrane and actin dynamics, directly interact with both Tir and EspF(U).[Tir & EspFU] (PMID:19286134)
- SPIN90 and IRSp53 positively cooperated to mediate Rac activation, and co-expression of SPIN90 and IRSp53 in COS-7 cells led to the complex formation of SPIN90-IRSp53 in the leading edge of cells (PMID:19460367)
- this study support the participation of BAIAP2 in the continuity of ADHD across life span,in some of the populations analyzed, suggest that genetic factors potentially influencing abnormal cerebral lateralization may be involved in this disorder. (PMID:19733838)
- The authors demonstrated that the association between the enterohemorrhagic Escherichia coli O157:H7 EspFu and IRSp53 induces dynamic membrane remodeling in epithelial cells. (PMID:19762983)
- this work does not conform to current views that the inverse-BAR domain or Cdc42 controls IRSp53 localization but provides an alternative model of how IRSp53 is recruited (and released) to carry out its functions at lamellipodia and filopodia. (PMID:19933840)
- IRSp53 and spinophilin regulate localized Rac activation by T-lymphocyte invasion and metastasis protein 1 (PMID:20360004)
- IRSp53, through its interaction with Eps8, not only affects cell migration but also dictates cellular growth in cancer cells. (PMID:20418908)
- Suppression of IRSp53 expression inhibited IGF-I-induced membrane targeting and local accumulation of WAVE2 at the leading edge of cells. (PMID:20621182)
- Cdc42 regulates the activity of IRSp53 by regulating the IRSp53-WIRE interaction as well as localization of the complex to plasma membrane to generate filopodia. (PMID:20678498)
- The results of this study and the supporting evidence highlighted previously suggest that the BAIAP2 gene may be involved in autism susceptibility. (PMID:20888579)
- A molecular dynamics study of the interaction between domain I-BAR of the IRSp53 protein and negatively charged membranes (PMID:21542353)
- Studied generation of filopodia with regards to the dynamic interaction established by Eps8, IRSp53 and VASP with actin filaments. (PMID:21814501)
- Structural basis for complex formation between human IRSp53 and the translocated intimin receptor Tir of enterohemorrhagic E. coli (PMID:21893288)
- mDia1 and WAVE2 are important Src homology 3 domain partners of IRSp53 in forming filopodia. (PMID:22179776)
- LIN7 is a novel regulator of IRSp53. (PMID:22767515)
- These above results indicated the possible involvement of BAIAP2 in the etiology of attention deficit disorder with hyperactivity, especially ADHD-I. (PMID:24377651)
- BAIAP2 is related to emotional modulation of human memory strength. (PMID:24392092)
- IRSp53 adopts a closed inactive conformation that opens synergistically with the binding of human Cdc42 to the CRIB-PR and effector proteins, such as the tumor-promoting factor Eps8, to the SH3 domain. (PMID:24584464)
- determined the alpha-synuclein-binding domain of beta-III tubulin and demonstrated that a short fragment containing this domain can suppress alpha-synuclein accumulation in the primary cultured cells (PMID:25031323)
- Results suggest the hypothesis that defective actin/membrane modulation in IRSp53-deficient dendritic spines may lead to social and cognitive deficits through N-methyl-d-aspartate receptor dysfunction. (PMID:26275848)
- dimers sense negative membrane curvature, display a non-monotonic sorting with curvature, and expand the membrane tube at high imposed tension while constricting it at low tension (PMID:26469246)
- Overexpression of LIN7 or IRSp53 did not prevent the formation of hyperfused mitochondria in cells coexpressing the Drp1 K38A mutant, thus suggesting that LIN7-IRSp53 complex requires functional Drp1 to regulate mitochondrial morphology. (PMID:27320196)
- BAIAP2 is a candidate gene for mediating dendritic spine density abnormalities in schizophrenia. Data suggest that altered DNA methylation in schizophrenia may be a mechanism for schizophrenia-related dendritic spine density reductions. (PMID:28195572)
- A BAIAP2 polymorphism, rs8079626, affects medial frontal gyrus and inferior parietal lobe connectivity in attention deficit hyperactivity order adults. (PMID:28938222)
- Coincident with the loss of PICK1 by GBF1-activated ARF1, CDC42 recruitment leads to the activation of IRSp53 and the ARP2/3 complex, resulting in a burst of F-actin polymerisation potentially powering scission. (PMID:29743604)
- IRSp53 heterodimer with only one subunit is phosphorylated, and each subunit of IRSp53 independently binds one 14-3-3 dimer. (PMID:30696821)
- Phosphorylation-dependent inhibition of IRSp53 by 14-3-3 counters activation by Cdc42 and cytoskeletal effectors, resulting in down-regulation of filopodia dynamics and cancer cell migration. In serum-starved cells, increased IRSp53 phosphorylation triggers 14-3-3 binding, which inhibits filopodia formation and dynamics, irrespective of whether IRSp53 is activated by Cdc42 or downstream effectors (Eps8, Ena/VASP). (PMID:30893014)
- BAIAP2 rs8079781, postnatal smoking exposure, and emotional problems in Japanese children aged 5 years: the Kyushu Okinawa Maternal and Child Health Study. (PMID:32388796)
- IRSp53 is a novel interactor of SHIP2: A role of the actin binding protein Mena in their cellular localization in breast cancer cells. (PMID:32535200)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | baiap2a | ENSDARG00000062799 |
| danio_rerio | baiap2b | ENSDARG00000103333 |
| mus_musculus | Baiap2 | ENSMUSG00000025372 |
| rattus_norvegicus | Baiap2 | ENSRNOG00000004049 |
| drosophila_melanogaster | IRSp53 | FBGN0052082 |
Paralogs (2): BAIAP2L1 (ENSG00000006453), BAIAP2L2 (ENSG00000128298)
Protein
Protein identifiers
BAR/IMD domain-containing adapter protein 2 — Q9UQB8 (reviewed: Q9UQB8)
Alternative names: Brain-specific angiogenesis inhibitor 1-associated protein 2, Fas ligand-associated factor 3, Insulin receptor substrate p53/p58, Insulin receptor substrate protein of 53 kDa
All UniProt accessions (16): B4DWA1, Q9UQB8, I3L0M4, I3L0Y9, I3L113, I3L125, I3L1C8, I3L2J6, I3L2M4, I3L327, I3L3C5, I3L3C6, I3L3J7, I3L4A3, I3L4C2, I3L526
UniProt curated annotations — full annotation on UniProt →
Function. Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions.
Subunit / interactions. Homodimer. Interacts with CDC42 and RAC1 that have been activated by GTP binding. Interacts with ATN1, ADGRB1, EPS8, SHANK1, SHANK2, SHANK3, WASF1 and WASF2. Interacts with ENAH after recruitment of CDC42. Interacts with TIAM1 and DIAPH1. Interacts (via SH3 domain) with E.coli effector protein EspF(U) (via PXXP motifs). Interacts with E.coli intimin receptor Tir.
Subcellular location. Cytoplasm. Membrane. Cell projection. Filopodium. Ruffle. Cytoskeleton.
Tissue specificity. Isoform 1 and isoform 4 are expressed almost exclusively in brain. Isoform 4 is barely detectable in placenta, prostate and testis. A short isoform is ubiquitous, with the highest expression in liver, prostate, testis and placenta.
Post-translational modifications. Phosphorylated on tyrosine residues by INSR in response to insulin treatment.
Domain organisation. The IMD domain forms a coiled coil. The isolated domain can induce actin bundling and filopodia formation. In the absence of G-proteins intramolecular interaction between the IMD and the SH3 domain gives rise to an auto-inhibited state of the protein. Interaction of the IMD with RAC1 or CDC42 leads to activation. The SH3 domain interacts with ATN1, ADGRB1, WASF1, WASF2, SHANK1, DIAPH1 and ENAH.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UQB8-1 | 1, IRSp53(L) | yes |
| Q9UQB8-2 | 2 | |
| Q9UQB8-3 | 3 | |
| Q9UQB8-4 | 4, BAIAP2-alpha | |
| Q9UQB8-5 | 5, BAIAP2-beta | |
| Q9UQB8-6 | 6 |
RefSeq proteins (35): NP_001138360, NP_001372056, NP_001372057, NP_001372058, NP_001372059, NP_001372060, NP_001372061, NP_001372062, NP_001372063, NP_001372064, NP_001372065, NP_001372066, NP_001372067, NP_001372068, NP_001372069, NP_001372070, NP_001372073, NP_001372074, NP_001372075, NP_001372076, NP_001372077, NP_001372078, NP_001372079, NP_001372080, NP_001372081, NP_001372082, NP_001372083, NP_001372084, NP_001372085, NP_001372086, NP_001372087, NP_001372088, NP_006331, NP_059344, NP_059345 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001452 | SH3_domain | Domain |
| IPR013606 | I-BAR_dom | Domain |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR027681 | IRSp53/IRTKS/Pinkbar | Family |
| IPR030128 | BAIP2_I-BAR_dom | Domain |
| IPR035594 | BAIP2_SH3 | Domain |
| IPR036028 | SH3-like_dom_sf | Homologous_superfamily |
Pfam: PF07653, PF08397
UniProt features (59 total): modified residue 12, helix 9, mutagenesis site 8, strand 7, splice variant 5, turn 4, region of interest 3, sequence conflict 3, compositionally biased region 3, domain 2, chain 1, sequence variant 1, coiled-coil region 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6ZEG | X-RAY DIFFRACTION | 1.09 |
| 6ZEI | X-RAY DIFFRACTION | 1.39 |
| 3RNJ | X-RAY DIFFRACTION | 1.5 |
| 4JS0 | X-RAY DIFFRACTION | 1.9 |
| 6BCR | X-RAY DIFFRACTION | 1.99 |
| 2YKT | X-RAY DIFFRACTION | 2.11 |
| 1Y2O | X-RAY DIFFRACTION | 2.2 |
| 6BCY | X-RAY DIFFRACTION | 2.3 |
| 6BD1 | X-RAY DIFFRACTION | 2.35 |
| 1WDZ | X-RAY DIFFRACTION | 2.63 |
| 6BQT | X-RAY DIFFRACTION | 2.8 |
| 6BD2 | X-RAY DIFFRACTION | 2.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UQB8-F1 | 72.81 | 0.52 |
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 (12): 261, 296, 323, 325, 336, 340, 346, 360, 366, 384, 395, 454
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 142 | abolishes actin-bundling and filopodia formation; when associated with e-143; e-146 and e147. |
| 143 | abolishes actin-bundling and filopodia formation; when associated with e-142; e-146 and e147. |
| 146 | abolishes actin-bundling and filopodia formation; when associated with e-142; e-143 and e147. |
| 147 | abolishes actin-bundling and filopodia formation; when associated with e-142; e-143 and e146. |
| 267 | loss of interaction with cdc42. loss of stimulation of neurite growth. |
| 413 | impairs the sh3 domain and abolishes the interaction with eps8. |
| 427 | loss of interaction with enah and no induction of filopodia; when associated with a-428. |
| 428 | loss of interaction with enah and no induction of filopodia; when associated with a-427. |
Function
Pathways and Gene Ontology
Reactome pathways
23 pathways
| ID | Pathway |
|---|---|
| R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| R-HSA-4420097 | VEGFA-VEGFR2 Pathway |
| R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
| R-HSA-9664422 | FCGR3A-mediated phagocytosis |
| R-HSA-162582 | Signal Transduction |
| R-HSA-1643685 | Disease |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-194138 | Signaling by VEGF |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9658195 | Leishmania infection |
| R-HSA-9664407 | Parasite infection |
| R-HSA-9664417 | Leishmania phagocytosis |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
| R-HSA-9824443 | Parasitic Infection Pathways |
MSigDB gene sets: 408 (showing top):
BIOCARTA_RHO_PATHWAY, GOBP_DENDRITE_DEVELOPMENT, TGGTGCT_MIR29A_MIR29B_MIR29C, AGGAAGC_MIR5163P, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, REACTOME_INNATE_IMMUNE_SYSTEM, HNF3ALPHA_Q6, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_RESPONSE_TO_ACID_CHEMICAL, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_DENDRITE_MORPHOGENESIS, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP
GO Biological Process (21): plasma membrane organization (GO:0007009), axonogenesis (GO:0007409), insulin receptor signaling pathway (GO:0008286), regulation of cell shape (GO:0008360), dendrite development (GO:0016358), positive regulation of actin filament polymerization (GO:0030838), regulation of actin cytoskeleton organization (GO:0032956), protein localization to synapse (GO:0035418), regulation of synaptic plasticity (GO:0048167), actin filament bundle assembly (GO:0051017), actin crosslink formation (GO:0051764), positive regulation of dendritic spine morphogenesis (GO:0061003), cellular response to epidermal growth factor stimulus (GO:0071364), cellular response to L-glutamate (GO:1905232), regulation of modification of postsynaptic actin cytoskeleton (GO:1905274), positive regulation of excitatory postsynaptic potential (GO:2000463), positive regulation of neuron projection development (GO:0010976), neuron differentiation (GO:0030182), modulation of chemical synaptic transmission (GO:0050804), cell-cell adhesion (GO:0098609), regulation of postsynapse organization (GO:0099175)
GO Molecular Function (8): transcription coregulator binding (GO:0001221), cytoskeletal adaptor activity (GO:0008093), PDZ domain binding (GO:0030165), identical protein binding (GO:0042802), proline-rich region binding (GO:0070064), scaffold protein binding (GO:0097110), cadherin binding involved in cell-cell adhesion (GO:0098641), protein binding (GO:0005515)
GO Cellular Component (32): ruffle (GO:0001726), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), microtubule (GO:0005874), plasma membrane (GO:0005886), adherens junction (GO:0005912), lamellipodium (GO:0030027), secretory granule (GO:0030141), filopodium (GO:0030175), neuronal cell body (GO:0043025), dendritic shaft (GO:0043198), neuron projection terminus (GO:0044306), excitatory synapse (GO:0060076), neuron projection branch point (GO:0061845), dendritic spine cytoplasm (GO:0061846), extracellular exosome (GO:0070062), synaptic membrane (GO:0097060), Schaffer collateral - CA1 synapse (GO:0098685), glutamatergic synapse (GO:0098978), postsynaptic density, intracellular component (GO:0099092), presynaptic cytosol (GO:0099523), postsynaptic cytosol (GO:0099524), cytoskeleton (GO:0005856), postsynaptic density (GO:0014069), actin cytoskeleton (GO:0015629), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005), dendritic spine (GO:0043197), presynapse (GO:0098793), postsynapse (GO:0098794)
Reactome top-level categories
Rollup of top-14 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 3 |
| Signaling by Rho GTPases | 2 |
| Fcgamma receptor (FCGR) dependent phagocytosis | 1 |
| Signaling by VEGF | 1 |
| RHO GTPase Effectors | 1 |
| Leishmania phagocytosis | 1 |
| Immune System | 1 |
| Signaling by Receptor Tyrosine Kinases | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Innate Immune System | 1 |
| Disease | 1 |
| Signal Transduction | 1 |
| Parasitic Infection Pathways | 1 |
| Leishmania infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| synapse | 4 |
| protein binding | 3 |
| regulation of biological quality | 2 |
| neuron projection development | 2 |
| cell leading edge | 2 |
| plasma membrane bounded cell projection | 2 |
| neuron projection | 2 |
| endomembrane system organization | 1 |
| membrane organization | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| cell surface receptor protein tyrosine kinase signaling pathway | 1 |
| cellular response to insulin stimulus | 1 |
| regulation of cell morphogenesis | 1 |
| anatomical structure development | 1 |
| actin filament polymerization | 1 |
| regulation of actin filament polymerization | 1 |
| positive regulation of protein polymerization | 1 |
| positive regulation of cytoskeleton organization | 1 |
| positive regulation of supramolecular fiber organization | 1 |
| actin cytoskeleton organization | 1 |
| regulation of actin filament-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| protein localization to cell junction | 1 |
| modulation of chemical synaptic transmission | 1 |
| cellular component assembly | 1 |
| actin filament bundle organization | 1 |
| actin filament organization | 1 |
| positive regulation of neuron projection development | 1 |
| positive regulation of dendrite morphogenesis | 1 |
| dendritic spine morphogenesis | 1 |
| positive regulation of dendritic spine development | 1 |
| regulation of dendritic spine morphogenesis | 1 |
| response to epidermal growth factor | 1 |
| cellular response to growth factor stimulus | 1 |
| cellular response to amino acid stimulus | 1 |
| cellular response to nitrogen compound | 1 |
| cellular response to oxygen-containing compound | 1 |
Protein interactions and networks
STRING
1796 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BAIAP2 | WASF2 | Q9Y6W5 | 997 |
| BAIAP2 | CDC42 | P21181 | 996 |
| BAIAP2 | EPS8 | Q12929 | 982 |
| BAIAP2 | ADGRB1 | O14514 | 974 |
| BAIAP2 | VASP | P50552 | 966 |
| BAIAP2 | DLG4 | P78352 | 946 |
| BAIAP2 | WASL | O00401 | 930 |
| BAIAP2 | WAS | P42768 | 907 |
| BAIAP2 | WASF1 | Q92558 | 864 |
| BAIAP2 | ABI2 | Q9NYB9 | 861 |
| BAIAP2 | ABI1 | Q8IZP0 | 848 |
| BAIAP2 | SHANK3 | Q9BYB0 | 841 |
| BAIAP2 | IQSEC2 | Q5JU85 | 827 |
| BAIAP2 | SHANK1 | Q9Y566 | 729 |
| BAIAP2 | RAB40B | Q12829 | 727 |
IntAct
228 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EPS8 | BAIAP2 | psi-mi:“MI:0915”(physical association) | 0.890 |
| BAIAP2 | EPS8 | psi-mi:“MI:0915”(physical association) | 0.890 |
| YWHAQ | WDR62 | psi-mi:“MI:0914”(association) | 0.830 |
| CAMK2G | CAMK2D | psi-mi:“MI:0914”(association) | 0.810 |
| YWHAH | ABLIM1 | psi-mi:“MI:0914”(association) | 0.800 |
| BAIAP2 | YWHAZ | psi-mi:“MI:0914”(association) | 0.800 |
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| BAIAP2 | BAIAP2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| EGFR | BAIAP2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| BAIAP2 | YWHAQ | psi-mi:“MI:0914”(association) | 0.740 |
| BRK1 | HSBP1 | psi-mi:“MI:0914”(association) | 0.740 |
| BAIAP2 | BAIAP2 | psi-mi:“MI:0407”(direct interaction) | 0.740 |
| BAIAP2 | RAC1 | psi-mi:“MI:0914”(association) | 0.730 |
| RAC1 | BAIAP2 | psi-mi:“MI:0915”(physical association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| BAIAP2L1 | BAIAP2 | psi-mi:“MI:0915”(physical association) | 0.710 |
| BAIAP2 | ABI1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| WASF1 | BAIAP2 | psi-mi:“MI:0915”(physical association) | 0.660 |
| BAIAP2 | YWHAE | psi-mi:“MI:0915”(physical association) | 0.650 |
BioGRID (340): BAIAP2 (Two-hybrid), BAIAP2 (Two-hybrid), BAIAP2 (Two-hybrid), BAIAP2 (Two-hybrid), PRR13 (Two-hybrid), C19orf25 (Two-hybrid), BAIAP2 (Two-hybrid), BAIAP2 (Affinity Capture-Western), BAIAP2 (Two-hybrid), BAIAP2 (Affinity Capture-MS), NCKAP1 (Affinity Capture-MS), CYFIP2 (Affinity Capture-MS), CYFIP1 (Affinity Capture-MS), EPS8 (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS)
ESM2 similar proteins: A1A4L0, A6H6A9, B4F779, G5E8V9, O35382, O60890, O95219, P0CAX5, P53365, P53367, Q08DP6, Q28E02, Q3ZCL5, Q4V7P7, Q566W7, Q5EAD0, Q5R4C2, Q5RCW6, Q5T0N5, Q5VWJ9, Q5ZJ17, Q60437, Q62824, Q6AY65, Q6GMN2, Q6PCS4, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q80TY0, Q8BHY8, Q8BKX1, Q8CE50, Q8K221, Q8K3G9, Q8K3H0, Q8N6S4, Q8NEU8, Q8R511
Diamond homologs: O60861, Q3KR97, Q5EAD0, Q60437, Q6GMN2, Q8BKX1, Q9DBJ3, Q9UHR4, Q9UQB8, Q557J6, Q80Y61, Q9Z0R6
SIGNOR signaling
13 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKAA2 | down-regulates | BAIAP2 | phosphorylation |
| AMPK | down-regulates | BAIAP2 | phosphorylation |
| BAIAP2 | “up-regulates activity” | ENAH | binding |
| CDC42 | “up-regulates activity” | BAIAP2 | binding |
| MARK2 | “down-regulates activity” | BAIAP2 | phosphorylation |
| BAIAP2 | up-regulates | WASF1 | binding |
| RAC1 | up-regulates | BAIAP2 | binding |
| KANK1 | “down-regulates activity” | BAIAP2 | binding |
| RAC1 | “up-regulates activity” | BAIAP2 | binding |
| BAIAP2 | up-regulates | Neurite_outgrowth | |
| BAIAP2 | “up-regulates activity” | WASF2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 150 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 |
|---|---|---|---|
| RHO GTPases Activate WASPs and WAVEs | 17 | 49.5× | 6e-23 |
| Activation of BAD and translocation to mitochondria | 7 | 48.9× | 1e-09 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 43.1× | 3e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 43.1× | 3e-09 |
| Parasite infection | 13 | 41.3× | 2e-16 |
| Leishmania phagocytosis | 13 | 41.3× | 2e-16 |
| Activation of BH3-only proteins | 8 | 36.4× | 8e-10 |
| Fcgamma receptor (FCGR) dependent phagocytosis | 13 | 33.2× | 4e-15 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of lamellipodium assembly | 8 | 35.1× | 5e-08 |
| Rac protein signal transduction | 8 | 32.8× | 5e-08 |
| lamellipodium assembly | 6 | 19.4× | 9e-05 |
| positive regulation of actin filament polymerization | 8 | 19.3× | 3e-06 |
| actin filament polymerization | 5 | 17.6× | 8e-04 |
| protein targeting | 6 | 16.0× | 2e-04 |
| substantia nigra development | 6 | 16.0× | 2e-04 |
| peptidyl-tyrosine phosphorylation | 5 | 15.4× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
128 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 10 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4685564 | BAIAP2, ARG29TRP | Pathogenic |
| 4685565 | NM_001144888.2(BAIAP2):c.1088G>A (p.Arg363His) | Pathogenic |
| 4685566 | NM_001144888.2(BAIAP2):c.1019C>A (p.Thr340Lys) | Pathogenic |
| 4685567 | NM_001144888.2(BAIAP2):c.1018A>G (p.Thr340Ala) | Pathogenic |
| 4685568 | NM_001144888.2(BAIAP2):c.566A>T (p.Glu189Val) | Pathogenic |
| 4685569 | NM_001144888.2(BAIAP2):c.1019C>T (p.Thr340Ile) | Pathogenic |
| 4685570 | NM_001144888.2(BAIAP2):c.1024C>G (p.Pro342Ala) | Pathogenic |
SpliceAI
4595 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:81035305:TAAGG:T | donor_loss | 1.0000 |
| 17:81035306:AAGG:A | donor_loss | 1.0000 |
| 17:81053666:A:AG | acceptor_gain | 1.0000 |
| 17:81053667:G:GG | acceptor_gain | 1.0000 |
| 17:81053667:GACC:G | acceptor_gain | 1.0000 |
| 17:81053718:G:GT | donor_gain | 1.0000 |
| 17:81053718:G:T | donor_gain | 1.0000 |
| 17:81056511:G:T | donor_gain | 1.0000 |
| 17:81057876:CTCA:C | acceptor_loss | 1.0000 |
| 17:81057879:A:AG | acceptor_gain | 1.0000 |
| 17:81057879:AG:A | acceptor_gain | 1.0000 |
| 17:81057879:AGGT:A | acceptor_gain | 1.0000 |
| 17:81057880:G:GT | acceptor_gain | 1.0000 |
| 17:81057880:GG:G | acceptor_gain | 1.0000 |
| 17:81057880:GGT:G | acceptor_gain | 1.0000 |
| 17:81057880:GGTG:G | acceptor_gain | 1.0000 |
| 17:81057880:GGTGT:G | acceptor_gain | 1.0000 |
| 17:81084817:T:A | acceptor_gain | 1.0000 |
| 17:81084822:T:TA | acceptor_gain | 1.0000 |
| 17:81084891:ATGGT:A | donor_loss | 1.0000 |
| 17:81084892:TGGTG:T | donor_loss | 1.0000 |
| 17:81084895:TGAG:T | donor_loss | 1.0000 |
| 17:81085646:A:AG | acceptor_gain | 1.0000 |
| 17:81085646:AT:A | acceptor_gain | 1.0000 |
| 17:81085647:T:G | acceptor_gain | 1.0000 |
| 17:81085647:T:TA | acceptor_gain | 1.0000 |
| 17:81085649:TCCA:T | acceptor_loss | 1.0000 |
| 17:81085650:CCAG:C | acceptor_loss | 1.0000 |
| 17:81085651:CAGC:C | acceptor_loss | 1.0000 |
| 17:81085652:A:AC | acceptor_loss | 1.0000 |
AlphaMissense
3528 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:81053696:T:C | L28P | 1.000 |
| 17:81053716:G:T | G35W | 1.000 |
| 17:81057896:C:A | A49D | 1.000 |
| 17:81057917:T:C | L56P | 1.000 |
| 17:81057928:G:A | G60R | 1.000 |
| 17:81057928:G:C | G60R | 1.000 |
| 17:81057928:G:T | G60W | 1.000 |
| 17:81057929:G:A | G60E | 1.000 |
| 17:81057938:C:A | A63D | 1.000 |
| 17:81084883:T:C | L90P | 1.000 |
| 17:81085688:T:C | L105P | 1.000 |
| 17:81085709:A:T | D112V | 1.000 |
| 17:81085721:T:C | L116P | 1.000 |
| 17:81086513:T:C | L141P | 1.000 |
| 17:81086522:T:C | L144P | 1.000 |
| 17:81100010:G:C | R191P | 1.000 |
| 17:81100015:C:A | R193S | 1.000 |
| 17:81100016:G:C | R193P | 1.000 |
| 17:81100028:T:C | L197P | 1.000 |
| 17:81103535:T:A | W226R | 1.000 |
| 17:81103535:T:C | W226R | 1.000 |
| 17:81103537:G:C | W226C | 1.000 |
| 17:81103537:G:T | W226C | 1.000 |
| 17:81104589:C:A | A381D | 1.000 |
| 17:81104628:T:C | L394P | 1.000 |
| 17:81104634:T:C | F396S | 1.000 |
| 17:81104661:T:C | L405P | 1.000 |
| 17:81104681:G:C | G412R | 1.000 |
| 17:81104682:G:A | G412D | 1.000 |
| 17:81104682:G:T | G412V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000998 (17:81050599 C>T), RS1000003985 (17:81100972 C>T), RS1000009015 (17:81083815 C>T), RS1000016524 (17:81074583 G>A), RS1000030400 (17:81050423 G>A), RS1000056858 (17:81103794 C>T), RS1000083248 (17:81073903 G>A,T), RS1000100120 (17:81061832 GTCT>G), RS1000105451 (17:81112157 C>CG), RS1000108811 (17:81046884 C>T), RS1000118436 (17:81111954 G>GC), RS1000124492 (17:81071602 G>A,C,T), RS1000144964 (17:81087801 T>TC), RS1000150392 (17:81049081 G>A), RS1000155588 (17:81071386 A>C)
Disease associations
OMIM: gene MIM:605475 | disease phenotypes: MIM:621468
GenCC curated gene-disease
Mondo (2): attention deficit-hyperactivity disorder (MONDO:0007743), developmental and epileptic encephalopathy 120 (MONDO:0980948)
Orphanet (0):
HPO phenotypes
43 total (30 of 43 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000252 | Microcephaly |
| HP:0000718 | Aggressive behavior |
| HP:0000729 | Autistic behavior |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0000817 | Reduced eye contact |
| HP:0001252 | Hypotonia |
| HP:0001256 | Mild intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001302 | Pachygyria |
| HP:0001310 | Dysmetria |
| HP:0001344 | Absent speech |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002119 | Ventriculomegaly |
| HP:0002188 | Delayed CNS myelination |
| HP:0002342 | Moderate intellectual disability |
| HP:0002353 | EEG abnormality |
| HP:0002360 | Sleep disturbance |
| HP:0002376 | Developmental regression |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0003593 | Infantile onset |
| HP:0007270 | Atypical absence seizure |
| HP:0007359 | Focal-onset seizure |
| HP:0010819 | Atonic seizure |
| HP:0010864 | Severe intellectual disability |
| HP:0011097 | Epileptic spasm |
| HP:0011147 | Typical absence seizure |
| HP:0011344 | Severe global developmental delay |
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002325_1 | Memory performance | 6.000000e-08 |
| GCST004751_1 | Serum uric acid levels in response to allopurinol in gout | 1.000000e-08 |
| GCST005232_156 | Neuroticism | 2.000000e-14 |
| GCST006940_154 | Neurociticism | 7.000000e-13 |
| GCST006952_11 | Feeling tense | 5.000000e-08 |
| GCST007709_114 | General factor of neuroticism | 4.000000e-09 |
| GCST009028_1 | Adverse response to drug | 4.000000e-08 |
| GCST010141_7 | Beef consumption | 4.000000e-08 |
| GCST010347_1 | Breast cancer | 3.000000e-07 |
| GCST010796_2855 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010988_69 | Adult body size | 1.000000e-08 |
| GCST010989_277 | Body size at age 10 | 9.000000e-09 |
| GCST011494_76 | Daytime nap | 3.000000e-17 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0004761 | uric acid measurement |
| EFO:0007660 | neuroticism measurement |
| EFO:0009596 | feeling tense measurement |
| EFO:0009658 | adverse effect |
| EFO:0008111 | diet measurement |
| EFO:0004327 | electrocardiography |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0007828 | daytime rest measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | increases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| bisphenol A | affects expression, affects cotreatment, increases methylation | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, increases expression | 2 |
| Smoke | increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| quercitrin | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1RM | HAP1 BAIAP2 (-) 1 | Cancer cell line | Male |
| CVCL_E1RN | HAP1 BAIAP2 (-) 2 | Cancer cell line | Male |
| CVCL_E1RP | HAP1 BAIAP2 (-) 3 | Cancer cell line | Male |
| CVCL_E1RQ | HAP1 BAIAP2 (-) 4 | Cancer cell line | Male |
| CVCL_E1RR | HAP1 BAIAP2 (-) 5 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00181571 | PHASE4 | COMPLETED | A Double-Blind Comparison of Concerta and Placebo in Adults With Attention Deficit Hyperactivity Disorder |
| NCT00181675 | PHASE4 | COMPLETED | A Double-Blind Comparison of Galantamine HBr and Placebo in Adults With Attention Deficit Hyperactivity Disorder |
| NCT00181714 | PHASE4 | COMPLETED | Prevention of Cigarette Smoking in Attention Deficit Hyperactivity Disorder (ADHD) Youth With Concerta |
| NCT00181948 | PHASE4 | COMPLETED | Strattera Treatment in Children With ADHD Who Have Poor Response to Stimulant Therapy |
| NCT00181987 | PHASE4 | COMPLETED | Concerta in the Treatment of ADHD in Youth and Adults With Bipolar Disorder |
| NCT00190736 | PHASE4 | COMPLETED | Efficacy and Safety of Once-Daily Atomoxetine Hydrochloride in Adults With ADHD Over an Extended Period of Time (6 Months) |
| NCT00190775 | PHASE4 | COMPLETED | A Randomized, Double-Blind Comparison of Placebo and Atomoxetine Hydrochloride Given Once a Day in Adults With Attention-Deficit/Hyperactivity Disorder (ADHD) |
| NCT00190879 | PHASE4 | COMPLETED | Placebo-Controlled Study of Atomoxetine Hydrochloride in the Treatment of Adults With ADHD and Comorbid Social Anxiety Disorder |
| NCT00190957 | PHASE4 | COMPLETED | Atomoxetine Treatment of Adults With ADHD and Comorbid Alcohol Abuse |
| NCT00191035 | PHASE4 | COMPLETED | Maintenance of Benefit With Atomoxetine Hydrochloride in Adolescents With ADHD |
| NCT00191048 | PHASE4 | COMPLETED | Treatment With Atomoxetine Hydrochloride in Children and Adolescents With ADHD |
| NCT00191633 | PHASE4 | COMPLETED | Study of Atomoxetine in Children With ADHD to Assess Symptomatic and Functional Outcomes |
| NCT00191906 | PHASE4 | COMPLETED | Comparison of Atomoxetine and Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Reading Disorder (RD) |
| NCT00216918 | PHASE4 | COMPLETED | Neuropsychological Functioning in Children With Attention-Deficit/Hyperactivity Disorder. |
| NCT00221962 | PHASE4 | COMPLETED | Study of Aripiprazole (Abilify) in Children With ADHD (Attention Deficit Hyperactivity Disorder) |
| NCT00223561 | PHASE4 | COMPLETED | Methylphenidate and Driving Ability in Adult Patients With Attention-Deficit Hyperactivity Disorder |
| NCT00299234 | PHASE4 | TERMINATED | Atomoxetine for Children With Acquired Attentional Disorders Following Completion of Chemotherapy for ALL |
| NCT00302406 | PHASE4 | COMPLETED | Naturalistic Substitution of Concerta in Adult Subject With ADHD Receiving Immediate Release Methylphenidate |
| NCT00305370 | PHASE4 | COMPLETED | Aripiprazole Associated With Methylphenidate in Children and Adolescents With Bipolar Disorder and ADHD |
| NCT00381758 | PHASE4 | COMPLETED | The COMACS Study: A Comparison of Methylphenidates in an Analog Classroom Setting |
| NCT00406354 | PHASE4 | COMPLETED | Comparison of Atomoxetine Versus Placebo in Children and Adolescents With ADHD and Comorbid ODD in Germany |
| NCT00434213 | PHASE4 | COMPLETED | Characterization of Dermal Reactions in Pediatric Patients With ADHD Using DAYTRANA |
| NCT00468143 | PHASE4 | COMPLETED | A Within-Subject Cross-Over Comparison Between Immediate Release and Extended Release Adderall |
| NCT00471354 | PHASE4 | COMPLETED | A Study for Patients With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine |
| NCT00483106 | PHASE4 | COMPLETED | Clinical and Pharmacogenetic Study of Attention Deficit With Hyperactivity Disorder (ADHD) |
| NCT00485849 | PHASE4 | COMPLETED | A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD |
| NCT00485875 | PHASE4 | COMPLETED | Safety and Efficacy of Switching From a Stimulant Medication to Atomoxetine in Children and Adolescents With ADHD |
| NCT00486122 | PHASE4 | COMPLETED | Evaluation of Continuous Symptom Treatment of ADHD |
| NCT00500071 | PHASE4 | COMPLETED | Dose-Optimization Study Evaluating the Efficacy, Safety and Tolerability of Vyvanse (Lisdexamfetamine Dimesylate) in Children Aged 6-12 Diagnosed With ADHD |
| NCT00506727 | PHASE4 | COMPLETED | Analog Classroom Study Comparison of ADDERALL XR With STRATTERA in Children Aged 6-12 With ADHD |
| NCT00510276 | PHASE4 | COMPLETED | Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) With Atomoxetine in Young Adults and Its Effects on Functional Outcomes |
| NCT00517504 | PHASE4 | COMPLETED | Methylphenidate Study in Young Children With Developmental Disorders |
| NCT00517647 | PHASE4 | COMPLETED | Atomoxetine Pilot Study in Preschool Children With ADHD |
| NCT00518232 | PHASE4 | COMPLETED | A Study to Determine Effective and Tolerable Titration Scheme for OROS-Methylphenidate in Children With Attention-deficit Hyperactivity Disorder |
| NCT00530257 | PHASE4 | COMPLETED | Study of the Effects of Osmotic-Release Oral System (OROS) Methylphenidate (Concerta) on Attention and Memory |
| NCT00536419 | PHASE4 | UNKNOWN | Impact of Attention Deficit/Hyperactivity Disorder and Substance Use Disorder on Motorcycle Traffic Accidents |
| NCT00546910 | PHASE4 | COMPLETED | Comparison of Atomoxetine Versus Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) |
| NCT00552266 | PHASE4 | UNKNOWN | Methylphenidate in ADHD With Trichotillomania |
| NCT00564954 | PHASE4 | COMPLETED | A Study of Dex-methylphenidate Extended Release in Children (6-12 Years) With Attention-Deficit/Hyperactivity Disorder (ADHD) |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): developmental and epileptic encephalopathy 120