SH2D3A Gene - SH2 Domain Containing 3A
Comprehensive genomic and functional analysis of SH2D3A, an adaptor protein involved in cell signaling and immune regulation.
Gene Information Card
| Symbol | SH2D3A |
|---|---|
| Full Name | SH2 domain containing 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10045 ncbi.nlm.nih.gov/gene/10045 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9BRL8 |
| OMIM ID | 605263 |
| HGNC ID | 16826 |
| Aliases | NSP1, SH2D3, SH2D3A1 |
Description
SH2D3A (SH2 domain containing 3A) is a protein-coding gene that encodes an adaptor protein containing an SH2 domain. It is involved in intracellular signal transduction, particularly in immune cells, and may play a role in cell migration and adhesion. The protein interacts with other signaling molecules to modulate cellular responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 5.2 | Medium |
| Spleen | 4.8 | Medium |
| Bone marrow | 3.1 | Low |
| Lung | 1.5 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 3.0 | Moderate expression |
| HEK 293 | 1.2 | Low expression |
| HeLa | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | missense | <0.01% | Unknown |
| c.456G>A (p.Val152Ile) | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • SH3/SH2 adaptor activity (GO:0005070) | • signal transduction (GO:0007165) |
| • cytoplasm (GO:0005737) |
Pathways
• R-HSA-9006934 - Signaling by Receptor Tyrosine Kinases
• R-HSA-422475 - Axon guidance
Protein Summary
SH2D3A encodes a 330-amino acid adaptor protein with a single SH2 domain. It localizes to the cytoplasm and participates in signaling cascades by binding to phosphorylated tyrosine residues on activated receptors. The protein is expressed predominantly in hematopoietic tissues and may influence immune cell function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH2D3A Knockout HEK293 Cell Line | EDJ-KQ3625 | Human | 10045 | Details Get a Quote |
| SH2D3A Knockout A-549 Cell Line | EDJ-KQ25564 | Human | 10045 | Details Get a Quote |
| SH2D3A Knockout HCT 116 Cell Line | EDJ-KQ25565 | Human | 10045 | Details Get a Quote |
| SH2D3A Knockout HeLa Cell Line | EDJ-KQ25566 | Human | 10045 | Details Get a Quote |
