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
- 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