Gene
itm2bb
- ID
- ZDB-GENE-040426-2139
- Name
- integral membrane protein 2Bb
- Symbol
- itm2bb Nomenclature History
- Previous Names
-
- itm2bl
- fb94b03
- wu:fb94b03
- zgc:64142
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have amyloid-beta binding activity. Predicted to be involved in negative regulation of amyloid precursor protein biosynthetic process. Predicted to localize to Golgi apparatus and plasma membrane. Is expressed in blood; macrophage; pronephric duct; ventral mesenchyme; and yolk syncytial layer. Human ortholog(s) of this gene implicated in ITM2B-related cerebral amyloid angiopathy 1 and ITM2B-related cerebral amyloid angiopathy 2. Orthologous to human ITM2B (integral membrane protein 2B).
- Genome Resources
- Note
- None
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput 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 |
|---|---|---|---|
| ITM2B-related cerebral amyloid angiopathy 1 | Alliance | Dementia, familial British | 176500 |
| ITM2B-related cerebral amyloid angiopathy 2 | Alliance | Dementia, familial Danish | 117300 |
| ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | 616079 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BRICHOS domain | Integral membrane protein 2 |
|---|---|---|---|
|
UniProtKB:A9JSW8
|
219 | ||
|
UniProtKB:Q7T328
|
254 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
itm2bb-201
(1)
|
1505 nt | |
| ncRNA |
itm2bb-002
(1)
|
575 nt |
Interactions and Pathways
No data available
Plasmids
No data available