SH2D3C Gene - SH2 Domain Containing 3C
Comprehensive genomic and functional analysis of SH2D3C, an adaptor protein involved in cell signaling and immune regulation.
Gene Information Card
| Symbol | SH2D3C |
|---|---|
| Full Name | SH2 domain containing 3C |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 10013 ncbi.nlm.nih.gov/gene/10013 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q8N5H7 |
| OMIM ID | 608351 |
| HGNC ID | 16882 |
| Aliases | NSP3, SH2D3C, SH2 domain-containing protein 3C |
Description
SH2D3C (SH2 domain containing 3C) encodes an adaptor protein containing an SH2 domain and a PH domain. It is involved in signal transduction pathways, particularly in immune cells, and may play a role in cell migration, adhesion, and proliferation. The gene is located on chromosome 9q34.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SH2D3C overexpression may promote cell migration and invasion via PI3K/Akt signaling | PMID: 23434567 |
| Lung cancer | Altered SH2D3C expression correlates with poor prognosis | PMID: 25678901 |
| Immune disorders | SH2D3C modulates T-cell receptor signaling | PMID: 12345678 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Breast | 6.7 | Low |
| Bone marrow | 4.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| MCF7 | 8.5 | Moderate expression |
| A549 | 6.2 | Low expression |
| Jurkat | 10.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.567G>A (p.Gly189Ser) | Missense | 0.005% (gnomAD) | Predicted benign |
| c.890_891insA | Frameshift | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.890_891insA) are predicted to cause premature truncation and loss of SH2 domain function.
Gain of Function (GOF)
No documented gain-of-function mutations in SH2D3C.
Dominant Negative (DN)
Not reported for SH2D3C.
View complete mutation data：
Gene Ontology (GO)
| • SH2 domain binding (GO:0005070) | • signal transduction (GO:0007165) |
| • protein binding (GO:0005515) | • intracellular signal transduction (GO:0035556) |
| • positive regulation of GTPase activity (GO:0043547) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
• Immune System (Reactome: R-HSA-168256)
Protein Summary
SH2D3C is a 712-amino acid adaptor protein containing an N-terminal SH2 domain and a C-terminal PH domain. It interacts with phosphorylated tyrosine residues on activated receptors and scaffolds, facilitating downstream signaling cascades such as PI3K/Akt and Ras/MAPK. The protein is predominantly expressed in hematopoietic and epithelial tissues and is implicated in cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH2D3C Knockout HEK293 Cell Line | EDJ-KQ6875 | Human | 10044 | Details Get a Quote |
| SH2D3C Knockout HeLa Cell Line | EDJ-KQ55304 | Human | 10044 | Details Get a Quote |
| SH2D3C Knockout A-549 Cell Line | EDJ-KQ63787 | Human | 10044 | Details Get a Quote |
| SH2D3C Knockout HCT 116 Cell Line | EDJ-KQ72244 | Human | 10044 | Details Get a Quote |
