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
- Acts upstream of or within neuromuscular junction development. Predicted to be located in lysosomal membrane. Predicted to be part of 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