SCIMP Gene - SLP Adaptor and CSK Interacting Membrane Protein
Comprehensive genomic and functional overview of SCIMP, a transmembrane adaptor protein involved in immune receptor signaling.
Gene Information Card
| Symbol | SCIMP |
|---|---|
| Full Name | SLP adaptor and CSK interacting membrane protein |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 388325 ncbi.nlm.nih.gov/gene/388325 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q6UWF3 |
| OMIM ID | 614056 |
| HGNC ID | 30594 |
| Aliases | C17orf87, FLJ39822, SLP adaptor and CSK interacting membrane protein |
Description
SCIMP (SLP adaptor and CSK interacting membrane protein) is a transmembrane adaptor protein predominantly expressed in immune cells. It localizes to the plasma membrane and recruits CSK (C-terminal Src kinase) to inhibit Src family kinases, thereby modulating immune receptor signaling. SCIMP is involved in the negative regulation of T-cell receptor (TCR) and B-cell receptor (BCR) signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid arthritis | SCIMP polymorphisms may alter immune signaling thresholds, contributing to autoimmune susceptibility. | GWAS association (PMID: 24390342) |
| Systemic lupus erythematosus | Variants in SCIMP are linked to altered B-cell receptor signaling and autoantibody production. | GWAS (PMID: 26502338) |
| Chronic lymphocytic leukemia | SCIMP expression is dysregulated in CLL, potentially affecting B-cell receptor signaling. | Expression profiling (PMID: 25605246) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Whole blood | 6.1 | Low |
| Lung | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (B-lymphoblast) | 15.3 | High expression |
| Jurkat (T-cell) | 11.7 | Medium expression |
| THP-1 (monocyte) | 9.4 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197C>T (p.Pro66Leu) | Missense | <0.01% | Unknown functional impact; rare population variant (gnomAD) |
| c.344G>A (p.Arg115Gln) | Missense | <0.01% | Predicted benign (ClinVar) |
| c.421_423del (p.Phe141del) | In-frame deletion | <0.001% | May affect transmembrane domain; no disease association reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SCIMP.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SCIMP.
Dominant Negative (DN)
No dominant-negative mutations described for SCIMP.
View complete mutation data:
Gene Ontology (GO)
Pathways
• T-cell receptor signaling pathway (KEGG: hsa04660)
• B-cell receptor signaling pathway (KEGG: hsa04662)
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
Protein Summary
SCIMP is a 196-amino acid transmembrane adaptor protein with a short extracellular domain, a single transmembrane helix, and a cytoplasmic tail containing multiple tyrosine-based motifs. It recruits CSK to the membrane, leading to phosphorylation of Src family kinases at their inhibitory C-terminal tyrosine, thereby dampening immune receptor signals. SCIMP is primarily expressed in hematopoietic tissues and plays a role in fine-tuning immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCIMP Knockout HEK293 Cell Line | EDJ-KQ15188 | Human | 388325 | Details Get a Quote |
| SCIMP Knockout HeLa Cell Line | EDJ-KQ60015 | Human | 388325 | Details Get a Quote |
| SCIMP Knockout A-549 Cell Line | EDJ-KQ68476 | Human | 388325 | Details Get a Quote |
| SCIMP Knockout HCT 116 Cell Line | EDJ-KQ76854 | Human | 388325 | Details Get a Quote |
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