LETM2
Leucine Zipper and EF-Hand Containing Transmembrane Protein 2
Gene Information Card
| Symbol | LETM2 |
|---|---|
| Full Name | Leucine zipper and EF-hand containing transmembrane protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 1 ncbi.nlm.nih.gov/gene/1 |
| Ensembl ID | ENSG00000164741 |
| UniProt ID | Q6ZUT3 |
| OMIM ID | 617059 |
| HGNC ID | 28679 |
| Aliases | FLJ32743, MGC131944 |
Description
LETM2 encodes a leucine zipper and EF-hand containing transmembrane protein. It is predicted to be involved in mitochondrial calcium homeostasis and may function as a mitochondrial inner membrane protein. The gene is located on chromosome 8p11.23 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.0 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | 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)
| • mitochondrial inner membrane | • calcium ion binding |
| • transmembrane transport |
Pathways
• Mitochondrial calcium transport
Protein Summary
LETM2 is a transmembrane protein containing a leucine zipper motif and EF-hand calcium-binding domains. It localizes to the mitochondrial inner membrane and is implicated in calcium homeostasis. The protein is encoded by the LETM2 gene on chromosome 8p11.23.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LETM2 Knockout HEK293 Cell Line | EDJ-KQ9402 | Human | 137994 | Details Get a Quote |
| LETM2 Knockout A-549 Cell Line | EDJ-KQ36052 | Human | 137994 | Details Get a Quote |
| LETM2 Knockout HCT 116 Cell Line | EDJ-KQ36053 | Human | 137994 | Details Get a Quote |
| LETM2 Knockout HeLa Cell Line | EDJ-KQ36054 | Human | 137994 | Details Get a Quote |