SRSF12
Serine and Arginine Rich Splicing Factor 12
Gene Information Card
| Symbol | SRSF12 |
|---|---|
| Full Name | Serine and Arginine Rich Splicing Factor 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8WXF0 |
| OMIM ID | 603272 |
| HGNC ID | 10785 |
| Aliases | SRrp35, SFRS12, SRrp35-1 |
Description
SRSF12 (Serine and Arginine Rich Splicing Factor 12) encodes a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors. The protein contains an RNA recognition motif and an SR-rich domain, and it functions in alternative splicing regulation. SRSF12 is involved in spliceosome assembly and may play a role in tissue-specific splicing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of alternative splicing; SRSF12 overexpression or mutation may alter splicing of oncogenes/tumor suppressors. | COSMIC; literature review |
| Retinitis pigmentosa | Potential splicing defects in retinal genes; limited direct evidence. | OMIM; NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Not detected |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 7.2 | Low expression |
| MCF7 | 11.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.574C>T (p.Arg192Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1021G>A (p.Gly341Ser) | Missense | <0.01% | Unknown; benign prediction |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleotide binding (GO:0000166) |
| • via spliceosome (GO:0000398) | • nucleus (GO:0005634) |
Pathways
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
SRSF12 is a 35 kDa SR-related protein that localizes to the nucleus and participates in pre-mRNA splicing. It contains an N-terminal RNA recognition motif (RRM) and a C-terminal SR-rich domain. The protein interacts with other spliceosomal components to regulate alternative exon inclusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRSF12 Knockout HEK293 Cell Line | EDJ-KQ8610 | Human | 135295 | Details Get a Quote |
| SRSF12 Knockout A-549 Cell Line | EDJ-KQ36008 | Human | 135295 | Details Get a Quote |
| SRSF12 Knockout HeLa Cell Line | EDJ-KQ58349 | Human | 135295 | Details Get a Quote |
| SRSF12 Knockout HCT 116 Cell Line | EDJ-KQ75241 | Human | 135295 | Details Get a Quote |
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