Gene
itgb4
- ID
- ZDB-GENE-030131-7209
- Name
- integrin, beta 4
- Symbol
- itgb4 Nomenclature History
- Previous Names
-
- fl03d06
- wu:fb72e01
- wu:fc27g01
- wu:fl03d06
- zgc:136313 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have integrin binding activity. Predicted to be involved in several processes, including cell adhesion mediated by integrin; cell-matrix adhesion; and integrin-mediated signaling pathway. Predicted to localize to cell surface; focal adhesion; and integrin complex. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex localized type; junctional epidermolysis bullosa non-Herlitz type; and junctional epidermolysis bullosa with pyloric atresia. Is expressed in hypodermis. Orthologous to human ITGB4 (integrin subunit beta 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Li et al., 2011
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| junctional epidermolysis bullosa with pyloric atresia | Alliance | Epidermolysis bullosa, junctional 5B, with pyloric atresia | 226730 |
| Epidermolysis bullosa, junctional 5A, intermediate | 619816 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR002369 | Integrin beta subunit, VWA domain |
| Domain | IPR003644 | Na-Ca exchanger/integrin-beta4 |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR012896 | Integrin beta subunit, tail |
| Domain | IPR016201 | PSI domain |
| Domain | IPR033760 | Integrin beta N-terminal |
| Domain | IPR040622 | Integrin beta, epidermal growth factor-like domain 1 |
| Family | IPR015812 | Integrin beta subunit |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036349 | Integrin beta tail domain superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
| Homologous_superfamily | IPR038081 | CalX-like domain superfamily |
Domain Details Per Protein
| Protein | Length | CalX-like domain superfamily | EGF-like domain | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin-like fold | Integrin beta, epidermal growth factor-like domain 1 | Integrin beta N-terminal | Integrin beta subunit | Integrin beta subunit, tail | Integrin beta subunit, VWA domain | Integrin beta tail domain superfamily | Na-Ca exchanger/integrin-beta4 | PSI domain | von Willebrand factor A-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q4U0S1
|
1893 | ||||||||||||||
|
UniProtKB:A0A8M2BEB1
|
1931 |
Interactions and Pathways
No data available
Plasmids
No data available