TMIGD2
Transmembrane and Immunoglobulin Domain Containing 2
Gene Information Card
| Symbol | TMIGD2 |
|---|---|
| Full Name | Transmembrane and Immunoglobulin Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 126259 ncbi.nlm.nih.gov/gene/126259 |
| Ensembl ID | ENSG00000167664 |
| UniProt ID | Q96BF3 |
| OMIM ID | 614715 |
| HGNC ID | 28341 |
| Aliases | CD28H, IGPR-1, PRO34071 |
Description
TMIGD2 (Transmembrane and Immunoglobulin Domain Containing 2) is a protein-coding gene located on chromosome 19p13.3. It encodes a type I transmembrane protein with a single immunoglobulin-like domain in its extracellular region. TMIGD2 functions as a co-stimulatory receptor on T cells and NK cells, binding to its ligand HHLA2. It plays a role in immune regulation and has been implicated in cancer immunotherapy due to its expression in various tumors and its ability to modulate T-cell responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | TMIGD2 expression on tumor cells may engage HHLA2 on immune cells, potentially modulating anti-tumor immunity. | Expression data from COSMIC and literature (Janakiram et al., 2015) |
| Autoimmune disorders | Altered TMIGD2/HHLA2 axis may contribute to dysregulated immune responses. | Inferred from immune checkpoint function; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.1 | Low |
| Lung | 6.3 | Low |
| Small intestine | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.0 | High expression |
| K562 (myelogenous leukemia) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | <0.1% (COSMIC) | Unknown functional effect |
| c.340C>T (p.Arg114Trp) | Missense | <0.1% (COSMIC) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane | • integral component of membrane |
| • immunoglobulin-like domain | • receptor activity |
| • T cell receptor signaling pathway | • positive regulation of T cell proliferation |
Pathways
• Immune checkpoint signaling
• T cell co-stimulation via HHLA2/TMIGD2
Protein Summary
The TMIGD2 protein (also known as CD28H or IGPR-1) is a 305-amino-acid transmembrane receptor with a single extracellular IgV domain. It is expressed on T cells, NK cells, and certain tumor cells. Upon binding to its ligand HHLA2, TMIGD2 delivers a co-stimulatory signal that enhances T-cell proliferation and cytokine production. The protein is involved in immune surveillance and has been explored as a target for cancer immunotherapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMIGD2 Knockout HEK293 Cell Line | EDJ-KQ3742 | Human | 126259 | Details Get a Quote |
| TMIGD2 Knockout HeLa Cell Line | EDJ-KQ58172 | Human | 126259 | Details Get a Quote |
| TMIGD2 Knockout A-549 Cell Line | EDJ-KQ66660 | Human | 126259 | Details Get a Quote |
| TMIGD2 Knockout HCT 116 Cell Line | EDJ-KQ75078 | Human | 126259 | Details Get a Quote |
