SIN3B Gene - Transcriptional Regulatory Protein
SIN3 Transcription Regulator Family Member B: A Key Epigenetic Modulator in Development and Disease
Gene Information Card
| Symbol | SIN3B |
|---|---|
| Full Name | SIN3 transcription regulator family member B |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 23309 ncbi.nlm.nih.gov/gene/23309 |
| Ensembl ID | ENSG00000127585 |
| UniProt ID | O75182 |
| OMIM ID | 607777 |
| HGNC ID | 10807 |
| Aliases | SIN3B, KIAA0700, SIN3B1 |
Description
SIN3B is a core component of the SIN3 histone deacetylase (HDAC) complex, which mediates transcriptional repression by deacetylating histones and recruiting chromatin remodeling factors. It plays critical roles in cell cycle regulation, differentiation, apoptosis, and development. SIN3B is ubiquitously expressed and implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | SIN3B acts as a tumor suppressor or oncogene depending on context; altered expression affects cell proliferation and apoptosis | COSMIC, NCBI |
| Developmental disorders | Mutations in SIN3B may disrupt transcriptional regulation during embryogenesis | OMIM, ClinVar |
| Intellectual disability | De novo variants in SIN3B associated with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 7.1 | Low |
| Kidney | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Embryonic kidney cells |
| HeLa | 11.0 | Cervical cancer cells |
| K562 | 9.5 | Leukemia cells |
| MCF7 | 8.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.567G>A (p.Glu189Lys) | Missense | <0.1% | Unknown functional impact |
| c.890_891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein; associated with reduced HDAC complex activity.
Gain of Function (GOF)
Not well documented; potential oncogenic role in some cancers via overexpression.
Dominant Negative (DN)
Not reported for SIN3B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (Reactome: R-HSA-157118)
• Chromatin modifying enzymes (Reactome: R-HSA-3247502)
• Transcriptional regulation by the SIN3 complex (Reactome: R-HSA-212294)
Protein Summary
SIN3B is a 1,322-amino acid protein that serves as a scaffold for the SIN3/HDAC complex. It contains paired amphipathic helix (PAH) domains that mediate protein-protein interactions with transcription factors and chromatin modifiers. Through deacetylation of histone H3 and H4 tails, SIN3B represses gene expression, influencing cell cycle arrest, differentiation, and apoptosis. Its dysregulation is linked to tumorigenesis and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SIN3B Knockout HEK293 Cell Line | EDJ-KQ7958 | Human | 23309 | Details Get a Quote |
| SIN3B Knockout HCT 116 Cell Line | EDJ-KQ32308 | Human | 23309 | Details Get a Quote |
| SIN3B Knockout A-549 Cell Line | EDJ-KQ33639 | Human | 23309 | Details Get a Quote |
| SIN3B Knockout HeLa Cell Line | EDJ-KQ33641 | Human | 23309 | Details Get a Quote |
