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. Human ortholog(s) of this gene implicated in ITM2B-related cerebral amyloid angiopathy 1 and ITM2B-related cerebral amyloid angiopathy 2. Is expressed in blood; macrophage; pronephric duct; ventral mesenchyme; and yolk syncytial layer. Orthologous to human ITM2B (integral membrane protein 2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64142 (5 images)
- IMAGE:6907762 (6 images)
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:Q7T328
|
254 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
itm2bb-201
(1)
|
Ensembl | 1,505 nt | ||
| ncRNA |
itm2bb-002
(1)
|
Ensembl | 575 nt |
Interactions and Pathways
No data available
Plasmids
No data available