LRATD2
LRAT domain containing 2
Gene Information Card
| Symbol | LRATD2 |
|---|---|
| Full Name | LRAT domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 196996 ncbi.nlm.nih.gov/gene/196996 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q8N7F7 |
| OMIM ID | 618845 |
| HGNC ID | 28333 |
| Aliases | C2orf32, FLJ20186, LRAT domain-containing protein 2 |
Description
LRATD2 (LRAT domain containing 2) is a protein-coding gene located on chromosome 2q31.1. The encoded protein contains a lecithin retinol acyltransferase (LRAT) domain, which is involved in retinoid metabolism. LRATD2 is expressed in various tissues and may play a role in cellular retinoid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Liver | 6.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
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)
| • GO:0005622 (GO:0005622) | • GO:0016740 (GO:0016740) |
Pathways
• Retinoid metabolism
Protein Summary
The LRATD2 protein contains an LRAT domain, which is characteristic of enzymes involved in retinoid esterification. Its exact biochemical function remains to be fully characterized, but it is predicted to participate in cellular retinoid processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRATD2 Knockout HEK293 Cell Line | EDJ-KQ14097 | Human | 157638 | Details Get a Quote |
| LRATD2 Knockout A-549 Cell Line | EDJ-KQ44025 | Human | 157638 | Details Get a Quote |
| LRATD2 Knockout HCT 116 Cell Line | EDJ-KQ44026 | Human | 157638 | Details Get a Quote |
| LRATD2 Knockout HeLa Cell Line | EDJ-KQ42795 | Human | 157638 | Details Get a Quote |
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