Gene
si:ch211-260e23.8
- ID
- ZDB-GENE-141216-116
- Name
- si:ch211-260e23.8
- Symbol
- si:ch211-260e23.8 Nomenclature History
- Previous Names
-
- c19orf12b3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be located in cytosol; endoplasmic reticulum; and mitochondrial membrane. Is expressed in central nervous system and somite. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 43 and neurodegeneration with brain iron accumulation 4. Orthologous to human C19orf12 (chromosome 19 open reading frame 12).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Mignani et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression 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 |
|---|---|---|---|
| hereditary spastic paraplegia 43 | Alliance | ?Spastic paraplegia 43, autosomal recessive | 615043 |
| neurodegeneration with brain iron accumulation 4 | Alliance | Neurodegeneration with brain iron accumulation 4 | 614298 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR033369 | Protein C19orf12 |
Domain Details Per Protein
| Protein | Length | Protein C19orf12 |
|---|---|---|
|
UniProtKB:A0A8M1RM27
|
143 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch211-260e23.8-201
(1)
|
Ensembl | 754 nt |
Interactions and Pathways
No data available
Plasmids
No data available