THEMIS2
Thymocyte Selection Associated Family Member 2
Gene Information Card
| Symbol | THEMIS2 |
|---|---|
| Full Name | Thymocyte Selection Associated Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.2 |
| NCBI Gene ID | 9473 ncbi.nlm.nih.gov/gene/9473 |
| Ensembl ID | ENSG00000130775 |
| UniProt ID | Q5TEJ8 |
| OMIM ID | 613654 |
| HGNC ID | 26979 |
| Aliases | C1orf38, FLJ20643, MGC129935, MGC129936 |
Description
THEMIS2 (Thymocyte Selection Associated Family Member 2) is a protein-coding gene that plays a role in T-cell development and immune signaling. It is part of the THEMIS family, which is involved in thymocyte selection and T-cell receptor signaling. The gene is located on chromosome 1p35.2 and encodes a protein with a CABIT domain, which is critical for its function in immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | THEMIS2 mutations may impair T-cell development and function, leading to immune deficiencies. | ClinVar |
| Autoimmune disorders | Altered THEMIS2 expression or function may contribute to autoimmune conditions through dysregulated T-cell selection. | NCBI Gene |
| Cancer | THEMIS2 expression changes have been observed in certain cancers, potentially affecting tumor immunity. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 9.2 | Medium |
| Bone marrow | 6.3 | Low |
| Whole blood | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat T cells | 15.2 | T-cell leukemia line |
| Raji B cells | 2.1 | Burkitt lymphoma line |
| HEK293 | 0.8 | Embryonic kidney line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the CABIT domain may disrupt protein-protein interactions and impair T-cell signaling.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • immune system process |
| • T cell receptor signaling pathway | • thymocyte selection |
Pathways
• T cell receptor signaling pathway
• Thymocyte selection
Protein Summary
THEMIS2 is a 637-amino acid protein containing a CABIT domain, which is involved in protein-protein interactions during T-cell development. It is expressed primarily in lymphoid tissues and plays a role in thymocyte selection and T-cell receptor signaling. The protein is localized to the cytoplasm and may shuttle to the nucleus upon activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THEMIS2 Knockout HEK293 Cell Line | EDJ-KQ6599 | Human | 9473 | Details Get a Quote |
| THEMIS2 Knockout HCT 116 Cell Line | EDJ-KQ30823 | Human | 9473 | Details Get a Quote |
| THEMIS2 Knockout HeLa Cell Line | EDJ-KQ55175 | Human | 9473 | Details Get a Quote |
| THEMIS2 Knockout A-549 Cell Line | EDJ-KQ63654 | Human | 9473 | Details Get a Quote |
