TLCD3B Gene
TLC Domain Containing 3B
Gene Information Card
| Symbol | TLCD3B |
|---|---|
| Full Name | TLC Domain Containing 3B |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617119 |
| HGNC ID | 37243 |
| Aliases | MGC16384, FLJ39632, TLC3B |
Description
TLCD3B (TLC Domain Containing 3B) is a protein-coding gene located on chromosome 16p13.3. The encoded protein contains a TLC (TRAM, LAG1, CLN8) domain, which is involved in lipid sensing and transport. TLCD3B is expressed in various tissues and may play a role in cellular lipid homeostasis. Limited functional studies suggest potential involvement in neurological and metabolic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Kidney | 2.8 | Low |
| Liver | 1.5 | Not detected |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.0 | Low expression |
| HepG2 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • Molecular Function: lipid binding (GO:0008289) | • Biological Process: lipid transport (GO:0006869) |
| • Cellular Component: membrane (GO:0016020) |
Pathways
• No curated pathways
Protein Summary
The TLCD3B protein is a 229-amino acid membrane-associated protein containing a TLC domain. It is predicted to localize to cellular membranes and may participate in lipid binding and transport. Structural and functional characterization remains limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLCD3B Knockout HEK293 Cell Line | EDJ-KQ9895 | Human | 83723 | Details Get a Quote |
| TLCD3B Knockout HeLa Cell Line | EDJ-KQ57473 | Human | 83723 | Details Get a Quote |
| TLCD3B Knockout A-549 Cell Line | EDJ-KQ65976 | Human | 83723 | Details Get a Quote |
| TLCD3B Knockout HCT 116 Cell Line | EDJ-KQ74398 | Human | 83723 | Details Get a Quote |
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