SURF2 Gene - Surfeit 2
A component of the surfeit locus, involved in RNA processing and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | SURF2 |
|---|---|
| Full Name | Surfeit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 6835 ncbi.nlm.nih.gov/gene/6835 |
| Ensembl ID | ENSG00000148290 |
| UniProt ID | O15541 |
| OMIM ID | 185630 |
| HGNC ID | 11476 |
| Aliases | SURF-2, surfeit locus protein 2 |
Description
SURF2 is a protein-coding gene located on chromosome 9q34.2, part of the surfeit gene cluster. The encoded protein is a component of the spliceosomal complex and is involved in pre-mRNA splicing. SURF2 is ubiquitously expressed and has been implicated in cellular growth regulation. Alterations in SURF2 expression or function are associated with certain cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations in SURF2 disrupt RNA splicing, leading to impaired neuronal development. | ClinVar |
| Breast cancer | SURF2 overexpression may contribute to tumorigenesis through altered splicing of oncogenic transcripts. | COSMIC, NCBI Gene |
| Colorectal cancer | Somatic mutations in SURF2 have been identified, potentially affecting cell proliferation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Lung | 10.1 | Medium |
| Kidney | 9.4 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | High expression in embryonic kidney cells |
| HeLa | 11.3 | Moderate expression in cervical cancer cells |
| MCF7 | 9.7 | Moderate expression in breast cancer cells |
| HepG2 | 7.2 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.487_489del (p.Lys163del) | Deletion | Rare | In-frame deletion, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with neurodevelopmental disorders.
Gain of Function (GOF)
Not well characterized; overexpression in some cancers may suggest oncogenic potential.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • nucleus (GO:0005634) | • RNA binding (GO:0003723) |
Pathways
• Spliceosome (KEGG: hsa03040)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
Protein Summary
The SURF2 protein (UniProt O15541) is a 291-amino acid component of the spliceosomal complex. It localizes to the nucleus and participates in pre-mRNA splicing. The protein contains a conserved domain of unknown function (DUF) and is ubiquitously expressed. Structural studies suggest it interacts with other spliceosomal proteins to facilitate intron removal.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SURF2 Knockout HEK293 Cell Line | EDJ-KQ5129 | Human | 6835 | Details Get a Quote |
| SURF2 Knockout A-549 Cell Line | EDJ-KQ29359 | Human | 6835 | Details Get a Quote |
| SURF2 Knockout HCT 116 Cell Line | EDJ-KQ29361 | Human | 6835 | Details Get a Quote |
| SURF2 Knockout HeLa Cell Line | EDJ-KQ29362 | Human | 6835 | Details Get a Quote |
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