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. Acts upstream of or within regulation of lipid metabolic process; regulation of synapse organization; and startle response. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in cone-rod dystrophy 22. 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 | Additional Resources | Length | TLC domain-containing | TRAM/LAG1/CLN8 homology domain |
|---|---|---|---|---|
| UniProtKB:E7FG14 | InterPro | 295 | ||
| UniProtKB:A0A8M2B2L9 | InterPro | 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
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-166G5 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001918931 (1) | 7880 nt | ||
| Genomic | GenBank:CR762399 (1) | 121539 nt | ||
| Polypeptide | UniProtKB:E7FG14 (1) | 295 aa |
- Tomasello, D.L., Kim, J.L., Khodour, Y., McCammon, J.M., Mitalipova, M., Jaenisch, R., Futerman, A.H., Sive, H. (2021) 16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis. iScience. 25:103551
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Blaker-Lee, A., Gupta, S., McCammon, J.M., De Rienzo, G., and Sive, H. (2012) Zebrafish homologs of 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Disease models & mechanisms. 5(6):834-851
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