Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 5MR7 | 2.5 | Crystal structure of the DBD domain of human Grhl2 |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0061713 | anterior neural tube closure |
| Biological Process | GO:0070830 | bicellular tight junction assembly |
| Biological Process | GO:0007420 | brain development |
| Biological Process | GO:0043010 | camera-type eye development |
| Biological Process | GO:0003208 | cardiac ventricle morphogenesis |
| Biological Process | GO:0007155 | cell adhesion |
| Biological Process | GO:0034329 | cell junction assembly |
| Biological Process | GO:0008283 | cell population proliferation |
| Biological Process | GO:0048701 | embryonic cranial skeleton morphogenesis |
| Biological Process | GO:0042733 | embryonic digit morphogenesis |
| Biological Process | GO:0008544 | epidermis development |
| Biological Process | GO:0003382 | epithelial cell morphogenesis |
| Biological Process | GO:0060672 | epithelial cell morphogenesis involved in placental branching |
| Biological Process | GO:0090132 | epithelium migration |
| Biological Process | GO:0060324 | face development |
| Biological Process | GO:0060487 | lung epithelial cell differentiation |
| Biological Process | GO:0060463 | lung lobe morphogenesis |
| Biological Process | GO:0035264 | multicellular organism growth |
| Biological Process | GO:0045617 | negative regulation of keratinocyte differentiation |
| Biological Process | GO:0001843 | neural tube closure |
| Biological Process | GO:0021915 | neural tube development |
| Biological Process | GO:0051973 | positive regulation of telomerase activity |
| Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| Biological Process | GO:0044030 | regulation of DNA methylation |
| Biological Process | GO:0006357 | regulation of transcription by RNA polymerase II |
| Molecular Function | GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific |
| Molecular Function | GO:0003700 | DNA-binding transcription factor activity |
| 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:0001161 | intronic transcription regulatory region sequence-specific DNA binding |
| Molecular Function | GO:0043565 | sequence-specific DNA binding |
| Cellular Component | GO:0005911 | cell-cell junction |
| Cellular Component | GO:0000785 | chromatin |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Membrane | ECO:0000269 | PubMed:25152456 |
| Nucleus | ECO:0000269 | PubMed:20938050 |
| Nucleus | ECO:0000269 | PubMed:25152456 |
| Nucleus | ECO:0000269 | PubMed:29499165 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000483 | Astigmatism |
| HP:0000501 | Glaucoma |
| HP:0000565 | Esotropia |
| HP:0000613 | Photophobia |
| HP:0000622 | Blurred vision |
| HP:0000632 | Lacrimation abnormality |
| HP:0000646 | Amblyopia |
| HP:0000668 | Hypodontia |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000962 | Hyperkeratosis |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0001798 | Anonychia |
| HP:0002015 | Dysphagia |
| HP:0002043 | Esophageal stricture |
| HP:0002099 | Asthma |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0004322 | Short stature |
| HP:0006297 | Enamel hypoplasia |
| HP:0007663 | Reduced visual acuity |
| HP:0007906 | Ocular hypertension |
| HP:0007957 | Corneal opacity |
| HP:0008404 | Nail dystrophy |
| HP:0009918 | Ectopia pupillae |
| HP:0011483 | Anterior synechiae of the anterior chamber |
| HP:0011490 | Abnormal Descemet membrane morphology |
| HP:0011491 | Reduced number of corneal endothelial cells |
| HP:0012040 | Corneal stromal edema |
| HP:0025092 | Epidermal acanthosis |
| HP:0025358 | Uveal ectropion |
| HP:0032122 | Very low visual acuity |
| HP:0100692 | Increased corneal curvature |
| HP:0200026 | Ocular pain |
| HP:0200065 | Chorioretinal degeneration |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| autosomal dominant nonsyndromic hearing loss 28 | MONDO:0012083 | H90 | chapter8, Diseases of the ear and mastoid process | OMIM:608641 | |
| nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome | MONDO:0014460 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:616029 | Orphanet:423454 |
| corneal dystrophy, posterior polymorphous, 4 | MONDO:0054832 | H18 | chapter7, Diseases of the eye and adnexa | OMIM:618031 |