SPIB
SPI-B Transcription Factor
Gene Information Card
| Symbol | SPIB |
|---|---|
| Full Name | Spi-B Transcription Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 6689 ncbi.nlm.nih.gov/gene/6689 |
| Ensembl ID | ENSG00000169432 |
| UniProt ID | Q01892 |
| OMIM ID | 606802 |
| HGNC ID | 11242 |
| Aliases | SPI-B, FLJ10306 |
Description
SPIB encodes a member of the ETS transcription factor family, specifically the SPI subfamily. The protein is a transcriptional activator that binds to a purine-rich sequence (GGAA/T) and plays a critical role in B-cell receptor signaling, B-cell development, and terminal differentiation of B cells into plasma cells. It is also involved in the regulation of immune responses and has been implicated in lymphomagenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse Large B-cell Lymphoma | Overexpression of SPIB contributes to B-cell lymphoma pathogenesis by promoting proliferation and survival of germinal center B cells. | PMID: 16959974, COSMIC |
| Primary Mediastinal B-cell Lymphoma | SPIB is frequently amplified and overexpressed, driving oncogenic transcription programs. | PMID: 16959974, COSMIC |
| Systemic Lupus Erythematosus | SPIB variants may alter B-cell activation thresholds, contributing to autoimmunity. | ClinVar, PMID: 22139424 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph Node | 10.8 | Medium |
| Bone Marrow | 8.2 | Medium |
| Blood | 6.1 | Low |
| Lung | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.3 | High expression |
| Daudi (Burkitt lymphoma) | 14.1 | High expression |
| K562 (leukemia) | 0.2 | Not detected |
| HeLa (cervical carcinoma) | 0.1 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | missense | <0.01% | Unknown significance |
| c.500G>A (p.Arg167Gln) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants predicted to disrupt DNA-binding or transactivation activity.
Gain of Function (GOF)
Amplification and overexpression in lymphoma act as gain-of-function.
Dominant Negative (DN)
Not reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• B cell receptor signaling pathway (Reactome: R-HSA-983705)
• Transcriptional regulation by RUNX1 (Reactome: R-HSA-8878171)
• ETS family transcription factors (KEGG: hsa04068)
Protein Summary
SPIB is a 262-amino acid transcription factor containing an ETS DNA-binding domain. It forms homodimers and heterodimers with other ETS proteins. The protein is predominantly expressed in B cells and plasma cells, where it regulates genes involved in B-cell receptor signaling, antigen presentation, and plasma cell differentiation. Post-translational modifications include phosphorylation, which modulates its transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIB Knockout HEK293 Cell Line | EDJ-KQ16766 | Human | 6689 | Details Get a Quote |
| SPIB Knockout HeLa Cell Line | EDJ-KQ54545 | Human | 6689 | Details Get a Quote |
| SPIB Knockout A-549 Cell Line | EDJ-KQ63029 | Human | 6689 | Details Get a Quote |
| SPIB Knockout HCT 116 Cell Line | EDJ-KQ71505 | Human | 6689 | Details Get a Quote |
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