Gene
tlcd3bb
- ID
- ZDB-GENE-110603-2
- Name
- TLC domain containing 3Bb
- Symbol
- tlcd3bb Nomenclature History
- Previous Names
-
- fam57bb
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable sphingosine N-acyltransferase activity. Predicted to be involved in ceramide biosynthetic process and lipid homeostasis. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in cone-rod dystrophy. Orthologous to human TLCD3B (TLC domain containing 3B).
- 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 |
|---|---|---|---|
| cone-rod dystrophy 22 | Alliance | Cone-rod dystrophy 22 | 619531 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | TLC domain-containing | TRAM/LAG1/CLN8 homology domain |
|---|---|---|---|
|
UniProtKB:E7FG14
|
295 | ||
|
UniProtKB:A0A8M2B2L9
|
193 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
fam57bb-202
(1)
|
Ensembl | 1,374 nt | ||
| mRNA |
tlcd3bb-201
(1)
|
Ensembl | 888 nt |
Interactions and Pathways
No data available
Plasmids
No data available