SAFB2: Scaffold Attachment Factor B2
A chromatin-binding protein involved in transcriptional regulation, RNA processing, and DNA damage response.
Gene Information Card
| Symbol | SAFB2 |
|---|---|
| Full Name | Scaffold attachment factor B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 64754 ncbi.nlm.nih.gov/gene/64754 |
| Ensembl ID | ENSG00000130234 |
| UniProt ID | Q14151 |
| OMIM ID | 608944 |
| HGNC ID | 29190 |
| Aliases | SAFB2, HSCARG, SAFB2_HUMAN |
Description
SAFB2 (Scaffold attachment factor B2) is a protein-coding gene located on chromosome 19p13.3. It encodes a nuclear matrix-associated protein that binds to scaffold/matrix attachment regions (S/MARs) of DNA, playing roles in chromatin organization, transcriptional regulation, RNA splicing, and the cellular response to DNA damage. SAFB2 is closely related to SAFB1 and shares functional domains including a SAF-box DNA-binding domain and an RNA recognition motif (RRM).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SAFB2 may act as a tumor suppressor; loss of expression or mutation contributes to dysregulated transcription and cell proliferation. | PMID: 15601828; COSMIC |
| Prostate cancer | Altered SAFB2 expression linked to hormone-independent growth and poor prognosis. | PMID: 17981182 |
| Intellectual disability | De novo missense variants in SAFB2 reported in neurodevelopmental disorders. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Breast | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 10.2 | Moderate expression |
| HeLa (cervical cancer) | 7.8 | Moderate expression |
| HEK293 (embryonic kidney) | 5.4 | Low expression |
| K562 (leukemia) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown; reported in ClinVar as VUS |
| c.1456_1457del (p.Leu486fs) | Frameshift | <0.01% | Predicted loss of function |
| c.789G>A (p.Trp263*) | Nonsense | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Trp263*, p.Leu486fs) are predicted to cause loss of function by truncating the protein, removing the RRM domain and impairing RNA binding.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SAFB2.
Dominant Negative (DN)
Missense variants in the SAF-box domain may interfere with DNA binding and exert dominant-negative effects, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nuclear receptors transcription pathway (Reactome: R-HSA-383280)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
SAFB2 is a 100 kDa nuclear protein containing an N-terminal SAF-box domain that binds scaffold/matrix attachment regions (S/MARs) of DNA, and a C-terminal RNA recognition motif (RRM) that mediates RNA binding. It functions as a transcriptional repressor or activator depending on context, and participates in alternative splicing and DNA repair. SAFB2 interacts with SAFB1 and other nuclear matrix proteins, and its dysregulation is implicated in breast and prostate cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAFB2 Knockout HEK293 Cell Line | EDJ-KQ6686 | Human | 9667 | Details Get a Quote |
| SAFB2 Knockout A-549 Cell Line | EDJ-KQ31024 | Human | 9667 | Details Get a Quote |
| SAFB2 Knockout HCT 116 Cell Line | EDJ-KQ31025 | Human | 9667 | Details Get a Quote |
| SAFB2 Knockout HeLa Cell Line | EDJ-KQ31026 | Human | 9667 | Details Get a Quote |
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