Gene
itga6b
- ID
- ZDB-GENE-050320-5
- Name
- integrin, alpha 6b
- Symbol
- itga6b Nomenclature History
- Previous Names
-
- fl20e08
- si:dkey-18j14.1
- wu:fl20e08
- zgc:113088
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable integrin binding activity. Acts upstream of or within glial cell development and retina development in camera-type eye. Predicted to be located in membrane. Predicted to be part of integrin complex. Predicted to be active in external side of plasma membrane. Is expressed in myotome. Human ortholog(s) of this gene implicated in junctional epidermolysis bullosa and junctional epidermolysis bullosa with pyloric atresia. Orthologous to human ITGA6 (integrin subunit alpha 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Charlton-Perkins et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Epidermolysis bullosa, junctional 6, with pyloric atresia | 619817 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018184 | Integrin alpha chain, C-terminal cytoplasmic region, conserved site |
| Domain | IPR013649 | Integrin alpha, first immunoglubulin-like domain |
| Domain | IPR048285 | Integrin alpha, second immunoglobulin-like domain |
| Domain | IPR048286 | Integrin alpha, third immunoglobulin-like domain |
| Family | IPR000413 | Integrin alpha chain |
| Homologous_superfamily | IPR028994 | Integrin alpha, N-terminal |
| Homologous_superfamily | IPR032695 | Integrin domain superfamily |
| Repeat | IPR013517 | FG-GAP repeat |
| Repeat | IPR013519 | Integrin alpha beta-propellor |
Domain Details Per Protein
| Protein | Length | FG-GAP repeat | Integrin alpha beta-propellor | Integrin alpha chain | Integrin alpha chain, C-terminal cytoplasmic region, conserved site | Integrin alpha, first immunoglubulin-like domain | Integrin alpha, N-terminal | Integrin alpha, second immunoglobulin-like domain | Integrin alpha, third immunoglobulin-like domain | Integrin domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AQ81
|
1051 | |||||||||
|
UniProtKB:Q5BLF7
|
1085 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
itga6b-202
(1)
|
Ensembl | 873 nt | ||
| mRNA |
itga6b-201
(1)
|
Ensembl | 4,254 nt | ||
| mRNA |
itga6b-203
(1)
|
Ensembl | 921 nt | ||
| ncRNA |
itga6b-002
(1)
|
Ensembl | 551 nt |
Interactions and Pathways
No data available
Plasmids
No data available