THEMIS: Thymocyte Selection Associated
A critical regulator of T-cell development and selection in the thymus
Gene Information Card
| Symbol | THEMIS |
|---|---|
| Full Name | Thymocyte Selection Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.33 |
| NCBI Gene ID | 387357 ncbi.nlm.nih.gov/gene/387357 |
| Ensembl ID | ENSG00000172613 |
| UniProt ID | Q8N1K5 |
| OMIM ID | 613664 |
| HGNC ID | 26938 |
| Aliases | C6orf207, GASP, THEMIS1, bA325O21.1 |
Description
THEMIS (Thymocyte Selection Associated) encodes a protein essential for positive and negative selection of T-cells in the thymus. It is predominantly expressed in thymocytes and peripheral T-cells, where it modulates T-cell receptor (TCR) signaling by interacting with the adaptor protein GRB2 and the phosphatase SHP-1. Loss of THEMIS leads to impaired T-cell development and altered immune tolerance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome-like disorder | Impaired thymocyte selection due to THEMIS deficiency leads to escape of autoreactive T-cells | PMID: 31073079 |
| Immunodeficiency with T-cell defects | Loss-of-function mutations disrupt TCR signaling and T-cell maturation | PMID: 19578368 |
| Multiple sclerosis (susceptibility) | THEMIS variants may alter T-cell selection and increase autoimmune risk | GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 8.2 | Medium |
| Bone marrow | 3.1 | Low |
| Blood | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.3 | High expression |
| MOLT-4 (T-cell lymphoblast) | 12.1 | High expression |
| K-562 (myelogenous leukemia) | 1.2 | Low expression |
| HeLa (cervical carcinoma) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | Rare | Loss of function; truncated protein |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Impaired GRB2 binding |
| c.832_833del (p.Leu278fs) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg37*, p.Leu278fs) abolish THEMIS protein function, leading to defective T-cell selection and immunodeficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for THEMIS.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for THEMIS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T cell receptor signaling pathway (KEGG: hsa04660)
• Thymic T cell selection (Reactome: R-HSA-202430)
Protein Summary
THEMIS is a 641-amino acid protein containing a proline-rich region and a nuclear localization signal. It acts as a scaffold in TCR signaling, binding GRB2 and recruiting SHP-1 to modulate the threshold for thymocyte selection. The protein is essential for the development of CD4+ and CD8+ single-positive T-cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THEMIS2 Knockout HEK293 Cell Line | EDJ-KQ6599 | Human | 9473 | Details Get a Quote |
| THEMIS Knockout HEK293 Cell Line | EDJ-KQ15721 | Human | 387357 | 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 |
| THEMIS Knockout HeLa Cell Line | EDJ-KQ59975 | Human | 387357 | Details Get a Quote |
| THEMIS2 Knockout A-549 Cell Line | EDJ-KQ63654 | Human | 9473 | Details Get a Quote |
| THEMIS Knockout A-549 Cell Line | EDJ-KQ68437 | Human | 387357 | Details Get a Quote |
| THEMIS Knockout HCT 116 Cell Line | EDJ-KQ76815 | Human | 387357 | Details Get a Quote |
