Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0007417 | central nervous system development |
| Biological Process | GO:0090103 | cochlea morphogenesis |
| Biological Process | GO:0007398 | ectoderm development |
| Biological Process | GO:0008544 | epidermis development |
| Biological Process | GO:0001736 | establishment of planar polarity |
| Biological Process | GO:0061436 | establishment of skin barrier |
| Biological Process | GO:0061029 | eyelid development in camera-type eye |
| Biological Process | GO:0001843 | neural tube closure |
| Biological Process | GO:0007389 | pattern specification process |
| Biological Process | GO:0090179 | planar cell polarity pathway involved in neural tube closure |
| Biological Process | GO:0043547 | positive regulation of GTPase activity |
| Biological Process | GO:0010628 | positive regulation of gene expression |
| Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| Biological Process | GO:0032956 | regulation of actin cytoskeleton organization |
| Biological Process | GO:0006357 | regulation of transcription by RNA polymerase II |
| Biological Process | GO:0006366 | transcription by RNA polymerase II |
| Biological Process | GO:0042060 | wound healing |
| Molecular Function | GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific |
| Molecular Function | GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific |
| Molecular Function | GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| Molecular Function | GO:0031490 | chromatin DNA binding |
| Molecular Function | GO:0043565 | sequence-specific DNA binding |
| Cellular Component | GO:0000785 | chromatin |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Nucleus | ECO:0000269 | PubMed:21081122 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000175 | Cleft palate |
| HP:0000185 | Cleft soft palate |
| HP:0000193 | Bifid uvula |
| HP:0000196 | Lower lip pit |
| HP:0000204 | Cleft upper lip |
| HP:0000220 | Velopharyngeal insufficiency |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0000403 | Recurrent otitis media |
| HP:0000405 | Conductive hearing impairment |
| HP:0000668 | Hypodontia |
| HP:0000674 | Anodontia |
| HP:0000689 | Dental malocclusion |
| HP:0001611 | Hypernasal speech |
| HP:0002033 | Poor suck |
| HP:0003577 | Congenital onset |
| HP:0008376 | Nasal, dysarthic speech |
| HP:0009088 | Speech articulation difficulties |
| HP:0010286 | Abnormal salivary gland morphology |
| HP:0010863 | Receptive language delay |
| HP:0011219 | Short face |
| HP:0011469 | Nasal regurgitation |
| HP:0011819 | Submucous cleft soft palate |
| HP:0011951 | Aspiration pneumonia |
| HP:0100267 | Lip pit |
| HP:0200136 | Oral-pharyngeal dysphagia |
| HP:0410030 | Cleft lip |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Enhanced |
| bone marrow | hematopoietic cells | Medium | Enhanced |
| breast | glandular cells | Low | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | neuronal cells | Low | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | glial cells | Low | Enhanced |
| cerebral cortex | neuronal cells | Medium | Enhanced |
| cervix | glandular cells | Low | Enhanced |
| cervix | squamous epithelial cells | Medium | Enhanced |
| colon | endothelial cells | Low | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| colon | peripheral nerve/ganglion | Low | Enhanced |
| duodenum | glandular cells | Low | Enhanced |
| endometrium 1 | cells in endometrial stroma | Low | Enhanced |
| endometrium 1 | glandular cells | Low | Enhanced |
| epididymis | glandular cells | Medium | Enhanced |
| esophagus | squamous epithelial cells | Medium | Enhanced |
| fallopian tube | glandular cells | Low | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| hippocampus | neuronal cells | Medium | Enhanced |
| kidney | cells in glomeruli | Low | Enhanced |
| kidney | cells in tubules | Medium | Enhanced |
| liver | hepatocytes | Low | Enhanced |
| lung | macrophages | Low | Enhanced |
| nasopharynx | respiratory epithelial cells | Medium | Enhanced |
| oral mucosa | squamous epithelial cells | Medium | Enhanced |
| pancreas | exocrine glandular cells | Low | Enhanced |
| pancreas | pancreatic endocrine cells | Low | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | Low | Enhanced |
| seminal vesicle | glandular cells | Low | Enhanced |
| skin 1 | cells in granular layer | High | Enhanced |
| skin 1 | cells in spinous layer | Medium | Enhanced |
| skin 1 | endothelial cells | Low | Enhanced |
| skin 1 | hair follicles | Medium | Enhanced |
| skin 1 | langerhans cells | Medium | Enhanced |
| skin 1 | lymphocytes | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 1 | vascular mural cells | Low | Enhanced |
| skin 2 | cells in spinous layer | Medium | Enhanced |
| skin 2 | endothelial cells | Low | Enhanced |
| skin 2 | langerhans cells | Medium | Enhanced |
| skin 2 | lymphocytes | Low | Enhanced |
| skin 2 | melanocytes | Low | Enhanced |
| skin 2 | vascular mural cells | Low | Enhanced |
| spleen | cells in red pulp | Low | Enhanced |
| spleen | cells in white pulp | Low | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | Medium | Enhanced |
| testis | cells in seminiferous ducts | Low | Enhanced |
| thyroid gland | glandular cells | Low | Enhanced |
| tonsil | germinal center cells | Low | Enhanced |
| tonsil | squamous epithelial cells | Medium | Enhanced |
| urinary bladder | urothelial cells | Medium | Enhanced |
| vagina | squamous epithelial cells | Medium | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| van der woude syndrome 2 | MONDO:0011712 | Q38 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:606713 |