Gene
tmem63c
- ID
- ZDB-GENE-120928-2
- Name
- transmembrane protein 63C
- Symbol
- tmem63c Nomenclature History
- Previous Names
-
- si:dkey-120l3.1
- si:dkey-7i21.1
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable calcium activated cation channel activity and osmolarity-sensing monoatomic cation channel activity. Involved in glomerular filtration. Acts upstream of or within glomerulus development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia. Orthologous to human TMEM63C (transmembrane protein 63C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Schulz et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hereditary spastic paraplegia 87 | Alliance | Spastic paraplegia 87, autosomal recessive | 619966 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Calcium permeable stress-gated cation channel 1-like | CSC1/OSCA1-like, 7TM region | CSC1/OSCA1-like, cytosolic domain | CSC1/OSCA1-like, N-terminal transmembrane domain |
---|---|---|---|---|---|
UniProtKB:B0R175
|
796 | ||||
UniProtKB:X1WEM4
|
825 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
tmem63c-201
(1)
|
Ensembl | 2,391 nt | ||
mRNA |
tmem63c-204
(1)
|
Ensembl | 4,025 nt | ||
ncRNA |
tmem63c-002
(1)
|
Ensembl | 704 nt | ||
ncRNA |
tmem63c-003
(1)
|
Ensembl | 389 nt |
Interactions and Pathways
No data available
Plasmids
No data available