Gene
borcs8
- ID
- ZDB-GENE-050208-757
- Name
- BLOC-1 related complex subunit 8
- Symbol
- borcs8 Nomenclature History
- Previous Names
-
- mef2b
- mef2bnb
- si:ch211-125m10.2
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to localize to BORC complex. Is expressed in brain and pharyngeal arch. Orthologous to human BORCS8 (BLOC-1 related complex subunit 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Hammond et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from De Pace et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities | 620987 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR019320 | BLOC-1-related complex subunit 8 |
Domain Details Per Protein
| Protein | Length | BLOC-1-related complex subunit 8 |
|---|---|---|
|
UniProtKB:A3KQI3
|
124 | |
|
UniProtKB:A0A8M2BHT0
|
128 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
borcs8-202
(1)
|
Ensembl | 844 nt | ||
| mRNA |
borcs8-201
(1)
|
Ensembl | 648 nt |
Interactions and Pathways
No data available
Plasmids
No data available