Gene
sgms2b
- ID
- ZDB-GENE-040801-162
- Name
- sphingomyelin synthase 2b
- Symbol
- sgms2b Nomenclature History
- Previous Names
-
- zgc:100911 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Predicted to be involved in ceramide biosynthetic process and sphingomyelin biosynthetic process. Predicted to act upstream of or within sphingolipid metabolic process. Predicted to be located in membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Human ortholog(s) of this gene implicated in calvarial doughnut lesions with bone fragility. Orthologous to human SGMS2 (sphingomyelin synthase 2).
- 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 |
|---|---|---|---|
| calvarial doughnut lesions with bone fragility | Alliance | Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia | 126550 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sphingomyelin synthase-like | Sphingomyelin synthase-like domain |
|---|---|---|---|
|
UniProtKB:Q6DEI3
|
373 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
sgms2b-201
(1)
|
Ensembl | 1,481 nt | ||
| mRNA |
sgms2b-202
(1)
|
Ensembl | 1,005 nt |
Interactions and Pathways
No data available
Plasmids
No data available