SH2D6: SH2 Domain Containing 6
A protein-coding gene with limited functional characterization, encoding a putative adaptor protein involved in immune signaling.
Gene Information Card
| Symbol | SH2D6 |
|---|---|
| Full Name | SH2 Domain Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 284948 ncbi.nlm.nih.gov/gene/284948 |
| Ensembl ID | ENSG00000188739 |
| UniProt ID | Q5T1C6 |
| OMIM ID | None |
| HGNC ID | 26929 |
| Aliases | FLJ32743, MGC35130 |
Description
SH2D6 (SH2 Domain Containing 6) is a protein-coding gene located on chromosome 2q11.2. The encoded protein contains a single Src homology 2 (SH2) domain, suggesting a role in phosphotyrosine-mediated signaling, particularly in immune cells. Its precise biological function remains incompletely understood, but it is predicted to act as an adaptor protein in signal transduction pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 5.2 | Low |
| Spleen | 4.8 | Low |
| Bone marrow | 3.1 | Low |
| Whole blood | 2.5 | Low |
| Lung | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 3.0 | Low expression |
| HEK 293 | 0.5 | Not detected |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • SH2 domain binding | • signal transduction |
| • protein tyrosine kinase binding |
Pathways
• No curated pathways in Reactome or KEGG
Protein Summary
The SH2D6 protein (UniProt Q5T1C6) is 247 amino acids long and contains a single SH2 domain. It is predicted to localize to the cytoplasm and may participate in immune receptor signaling by binding phosphorylated tyrosine residues. No 3D structure has been experimentally determined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH2D6 Knockout HEK293 Cell Line | EDJ-KQ14460 | Human | 284948 | Details Get a Quote |
| SH2D6 Knockout HeLa Cell Line | EDJ-KQ59495 | Human | 284948 | Details Get a Quote |
| SH2D6 Knockout A-549 Cell Line | EDJ-KQ67962 | Human | 284948 | Details Get a Quote |
| SH2D6 Knockout HCT 116 Cell Line | EDJ-KQ76339 | Human | 284948 | Details Get a Quote |
