SECISBP2L Gene - Selenocysteine Insertion Sequence Binding Protein 2 Like
Comprehensive genomic and functional overview of SECISBP2L, a gene involved in selenoprotein synthesis and cellular redox regulation.
Gene Information Card
| Symbol | SECISBP2L |
|---|---|
| Full Name | Selenocysteine Insertion Sequence Binding Protein 2 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 9728 ncbi.nlm.nih.gov/gene/9728 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y6X0 |
| OMIM ID | 607695 |
| HGNC ID | 29199 |
| Aliases | SECISBP2L1, SECISBP2L2, SECISBP2L3, FLJ20035 |
Description
SECISBP2L (Selenocysteine Insertion Sequence Binding Protein 2 Like) is a protein-coding gene located on chromosome 15q21.1. It encodes a protein that is similar to SECISBP2, which is involved in the incorporation of selenocysteine into selenoproteins. SECISBP2L may play a role in selenoprotein synthesis and cellular redox homeostasis. The gene is expressed in multiple tissues and has been implicated in various cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect selenoprotein synthesis and redox balance, contributing to tumorigenesis. | COSMIC, literature |
| Neurodegenerative disorders | Potential role in oxidative stress regulation; further evidence needed. | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 11.2 | Medium expression |
| K562 | 8.5 | Medium expression |
| A549 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567_568del (p.Glu189fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567_568del) are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • selenocysteine incorporation (GO:0016032) |
Pathways
• Selenocysteine synthesis and incorporation
• Selenoprotein metabolism
Protein Summary
The SECISBP2L protein (UniProt Q9Y6X0) is a 684-amino acid protein that contains a selenocysteine insertion sequence (SECIS) binding domain. It is localized in the cytoplasm and cytosol and is involved in RNA binding and selenocysteine incorporation. The protein may function as a cofactor for selenoprotein synthesis, similar to SECISBP2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SECISBP2L Knockout HEK293 Cell Line | EDJ-KQ6716 | Human | 9728 | Details Get a Quote |
| SECISBP2L Knockout A-549 Cell Line | EDJ-KQ31088 | Human | 9728 | Details Get a Quote |
| SECISBP2L Knockout HCT 116 Cell Line | EDJ-KQ31089 | Human | 9728 | Details Get a Quote |
| SECISBP2L Knockout HeLa Cell Line | EDJ-KQ31090 | Human | 9728 | Details Get a Quote |
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