Gene
tmem53
- ID
- ZDB-GENE-040718-384
- Name
- transmembrane protein 53
- Symbol
- tmem53 Nomenclature History
- Previous Names
-
- zgc:92204
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to be involved in several processes, including negative regulation of BMP signaling pathway; negative regulation of ossification; and negative regulation of osteoblast differentiation. Predicted to be located in nuclear outer membrane. Human ortholog(s) of this gene implicated in craniotubular dysplasia Ikegawa type. Orthologous to human TMEM53 (transmembrane protein 53).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniotubular dysplasia Ikegawa type | Alliance | Craniotubular dysplasia, Ikegawa type | 619727 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha/Beta hydrolase fold | Protein of unknown function DUF829, TMEM53 |
|---|---|---|---|---|
| UniProtKB:Q6DHN0 | InterPro | 281 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tmem53-201
(1)
|
Ensembl | 1,331 nt |
Interactions and Pathways
No data available
Plasmids
No data available