SCAF8
SR-Related CTD Associated Factor 8
Gene Information Card
| Symbol | SCAF8 |
|---|---|
| Full Name | SR-Related CTD Associated Factor 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.3 |
| NCBI Gene ID | 22831 ncbi.nlm.nih.gov/gene/22831 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9UPN6 |
| OMIM ID | 614432 |
| HGNC ID | 29127 |
| Aliases | RBM16, SCAF8, SRRP35 |
Description
SCAF8 (SR-Related CTD Associated Factor 8) encodes a protein that belongs to the SR-related family of RNA-binding proteins. It interacts with the C-terminal domain (CTD) of RNA polymerase II and is involved in pre-mRNA splicing, transcriptional elongation, and chromatin regulation. The protein contains an RNA recognition motif (RRM) and an arginine/serine-rich (RS) domain, characteristic of splicing factors. SCAF8 is ubiquitously expressed with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered splicing and transcriptional regulation | COSMIC mutation data; expression changes in tumors |
| Neurodevelopmental disorders | Potential role in RNA processing in neurons | Inferred from expression and functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Lung | 10.8 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.1 | High expression |
| HeLa | 18.4 | Medium-high |
| K562 | 12.7 | Medium |
| HepG2 | 8.9 | Low-medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.01% (gnomAD) | Loss of function |
| c.567G>A (p.Glu189Lys) | Missense | 0.005% (gnomAD) | Unknown functional impact |
| c.890_891insA (p.Val297fs) | Frameshift | 0.002% (gnomAD) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants predicted to cause nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in SCAF8.
Dominant Negative (DN)
Not reported for SCAF8.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • regulation of transcription |
| • DNA-templated | • nucleus |
| • nucleoplasm | • cytoplasm |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
SCAF8 is a 110 kDa nuclear protein containing an N-terminal RRM domain and a C-terminal RS domain. It binds to the phosphorylated CTD of RNA polymerase II and facilitates the recruitment of splicing factors to nascent transcripts. The protein also interacts with chromatin modifiers and may influence transcriptional elongation. Its expression is regulated during development and in response to cellular stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCAF8 Knockout HEK293 Cell Line | EDJ-KQ7690 | Human | 22828 | Details Get a Quote |
| SCAF8 Knockout A-549 Cell Line | EDJ-KQ33060 | Human | 22828 | Details Get a Quote |
| SCAF8 Knockout HCT 116 Cell Line | EDJ-KQ33061 | Human | 22828 | Details Get a Quote |
| SCAF8 Knockout HeLa Cell Line | EDJ-KQ33062 | Human | 22828 | Details Get a Quote |
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