Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Publications
Catalytic activity
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0098609 | cell-cell adhesion |
| Biological Process | GO:0045216 | cell-cell junction organization |
| Biological Process | GO:0090557 | establishment of endothelial intestinal barrier |
| Biological Process | GO:0034109 | homotypic cell-cell adhesion |
| Biological Process | GO:0050892 | intestinal absorption |
| Biological Process | GO:0035633 | maintenance of blood-brain barrier |
| Biological Process | GO:1905605 | positive regulation of blood-brain barrier permeability |
| Biological Process | GO:0150105 | protein localization to cell-cell junction |
| Biological Process | GO:0090559 | regulation of membrane permeability |
| Molecular Function | GO:0045296 | cadherin binding |
| Molecular Function | GO:0050839 | cell adhesion molecule binding |
| Molecular Function | GO:0004385 | guanylate kinase activity |
| Molecular Function | GO:0019904 | protein domain specific binding |
| Molecular Function | GO:1990782 | protein tyrosine kinase binding |
| Molecular Function | GO:0030674 | protein-macromolecule adaptor activity |
| Cellular Component | GO:0005912 | adherens junction |
| Cellular Component | GO:0005923 | bicellular tight junction |
| Cellular Component | GO:0044291 | cell-cell contact zone |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR001452 | SH3 domain |
| IPR001478 | PDZ domain |
| IPR005417 | Tight junction protein ZO |
| IPR005419 | Tight junction protein ZO-2 |
| IPR008144 | Guanylate kinase-like domain |
| IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR035598 | ZO-2, SH3 domain |
| IPR036028 | SH3-like domain superfamily |
| IPR036034 | PDZ superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00595 | PDZ domain |
| PF00625 | Guanylate kinase |
| PF07653 | Variant SH3 domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-2028269 | Signaling by Hippo | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-351906 | Apoptotic cleavage of cell adhesion proteins | Leaf | R-HSA-5357801 | Programmed Cell Death |
| R-HSA-8980692 | RHOA GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013026 | RHOB GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| R-HSA-9013106 | RHOC GTPase cycle | Leaf | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell junction, adherens junction | ECO:0000250 | |
| Cell junction, tight junction | ECO:0000250 | |
| Cell membrane | ECO:0000250 | |
| Nucleus | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000989 | Pruritus |
| HP:0001394 | Cirrhosis |
| HP:0001399 | Hepatic failure |
| HP:0001402 | Hepatocellular carcinoma |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0001409 | Portal hypertension |
| HP:0001508 | Failure to thrive |
| HP:0002570 | Steatorrhea |
| HP:0002630 | Fat malabsorption |
| HP:0002748 | Rickets |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0003676 | Progressive |
| HP:0011892 | Low levels of vitamin K |
| HP:0012202 | Increased serum bile acid concentration |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Supported |
| appendix | glandular cells | Medium | Supported |
| bone marrow | hematopoietic cells | Low | Supported |
| breast | glandular cells | Medium | Supported |
| breast | myoepithelial cells | Medium | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| caudate | glial cells | Low | Supported |
| cerebral cortex | endothelial cells | Low | Supported |
| cerebral cortex | glial cells | Low | Supported |
| cerebral cortex | neuropil | Low | Supported |
| cervix | glandular cells | Medium | Supported |
| cervix | squamous epithelial cells | Low | Supported |
| colon | endothelial cells | Low | Supported |
| colon | glandular cells | Medium | Supported |
| colon | peripheral nerve/ganglion | Medium | Supported |
| duodenum | glandular cells | Medium | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | Medium | Supported |
| esophagus | squamous epithelial cells | Medium | Supported |
| fallopian tube | glandular cells | Medium | Supported |
| gallbladder | glandular cells | Medium | Supported |
| heart muscle | cardiomyocytes | Medium | Supported |
| hippocampus | glial cells | Low | Supported |
| kidney | cells in glomeruli | Medium | Supported |
| kidney | cells in tubules | Medium | Supported |
| liver | cholangiocytes | Low | Supported |
| liver | hepatocytes | Medium | Supported |
| lung | alveolar cells | Low | Supported |
| lung | macrophages | Low | Supported |
| lymph node | germinal center cells | Medium | Supported |
| lymph node | non-germinal center cells | Medium | Supported |
| nasopharynx | respiratory epithelial cells | Medium | Supported |
| oral mucosa | squamous epithelial cells | Low | Supported |
| ovary | follicle cells | Medium | Supported |
| ovary | ovarian stroma cells | Low | Supported |
| pancreas | exocrine glandular cells | Medium | Supported |
| parathyroid gland | glandular cells | Medium | Supported |
| placenta | decidual cells | Medium | Supported |
| placenta | trophoblastic cells | Medium | Supported |
| prostate | glandular cells | Medium | Supported |
| rectum | glandular cells | Medium | Supported |
| salivary gland | glandular cells | Medium | Supported |
| seminal vesicle | glandular cells | Medium | Supported |
| skeletal muscle | myocytes | Low | Supported |
| skin 1 | endothelial cells | Low | Supported |
| skin 2 | cells in basal layer | Medium | Supported |
| skin 2 | cells in granular layer | Low | Supported |
| skin 2 | cells in spinous layer | Low | Supported |
| skin 2 | endothelial cells | Low | Supported |
| skin 2 | extracellular matrix | Low | Supported |
| small intestine | glandular cells | Medium | Supported |
| smooth muscle | smooth muscle cells | Low | Supported |
| stomach 1 | glandular cells | Medium | Supported |
| stomach 2 | glandular cells | Medium | Supported |
| testis | sertoli cells | Medium | Supported |
| testis | spermatogonia cells | Medium | Supported |
| thyroid gland | glandular cells | Medium | Supported |
| tonsil | germinal center cells | Medium | Supported |
| tonsil | non-germinal center cells | Medium | Supported |
| tonsil | squamous epithelial cells | Medium | Supported |
| urinary bladder | urothelial cells | Medium | Supported |
| vagina | squamous epithelial cells | Low | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| progressive familial intrahepatic cholestasis type 2 | MONDO:0011156 | K76 | chapter11, Diseases of the digestive system | OMIM:601847 | Orphanet:79304 |
| obsolete familial hypercholanemia | MONDO:0011905 | E88 | chapter4, Endocrine, nutritional and metabolic diseases | ||
| cholestasis, progressive familial intrahepatic, 4 | MONDO:0014381 | K76 | chapter11, Diseases of the digestive system | OMIM:615878 | Orphanet:480483 |
| cholestasis, progressive familial intrahepatic, 4 | MONDO:0014381 | K76 | chapter11, Diseases of the digestive system | OMIM:615878 | Orphanet:79304 |
| autosomal dominant nonsyndromic hearing loss | MONDO:0019587 | H90 | chapter8, Diseases of the ear and mastoid process | OMIMPS:124900 | Orphanet:90635 |
| hypercholanemia- familial 1 | MONDO:0031446 | E88 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:607748 | Orphanet:238475 |