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.

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 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
Displaying Records 1 To 4 Of 4 Records
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