SUGP2: Splicing Regulatory Factor and Cancer-Associated Gene
Comprehensive genomic and functional overview of SUGP2 (SURP and G-patch domain containing 2)
Gene Information Card
| Symbol | SUGP2 |
|---|---|
| Full Name | SURP and G-patch domain containing 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10147 ncbi.nlm.nih.gov/gene/10147 |
| Ensembl ID | ENSG00000105618 |
| UniProt ID | Q8IX01 |
| OMIM ID | 607992 |
| HGNC ID | 11456 |
| Aliases | SFRS14, SRrp130, FLJ10350, MGC131971 |
Description
SUGP2 (SURP and G-patch domain containing 2) encodes a protein involved in pre-mRNA splicing. It contains a SURP domain and a G-patch domain, both characteristic of RNA-binding and splicing factors. SUGP2 is thought to regulate alternative splicing and may play a role in cell cycle control and cancer progression. The gene is located on chromosome 19p13.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered splicing of oncogenes and tumor suppressors; SUGP2 overexpression observed in some subtypes | COSMIC; PMID: 25691885 |
| Lung adenocarcinoma | Potential splicing dysregulation; mutations found in tumor samples | COSMIC; PMID: 26619011 |
| Colorectal cancer | Upregulation linked to poor prognosis; possible role in splicing of cell cycle genes | PMID: 29348629 |
| Glioblastoma | Expression changes associated with tumor grade; splicing network disruption | PMID: 27626311 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney; moderate expression |
| HeLa | 8.7 | Cervical carcinoma; moderate expression |
| A549 | 7.1 | Lung carcinoma; moderate expression |
| MCF7 | 6.5 | Breast carcinoma; moderate expression |
| HCT116 | 5.9 | Colorectal carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1243G>A (p.Glu415Lys) | Missense | <0.1% | Unknown; predicted benign by SIFT |
| c.1876C>T (p.Arg626Trp) | Missense | <0.1% | Unknown; predicted possibly damaging by PolyPhen |
| c.2345_2346insA | Frameshift | <0.1% | Loss of function; truncation |
| c.3010G>T (p.Glu1004*) | Nonsense | <0.1% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking functional domains, likely impairing splicing regulation.
Gain of Function (GOF)
No clear gain-of-function mutations reported; missense variants may alter RNA-binding specificity but evidence is limited.
Dominant Negative (DN)
Not established; potential dominant-negative effects from missense mutations in the G-patch domain have not been confirmed.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • nucleus | • nucleoplasm |
| • RNA binding | • protein binding |
| • spliceosomal complex |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
SUGP2 is a 1044-amino-acid protein containing an N-terminal SURP domain and a C-terminal G-patch domain. It localizes to the nucleus and associates with spliceosomal components. The protein is thought to facilitate spliceosome assembly and regulate alternative splicing of specific pre-mRNAs. SUGP2 may interact with other splicing factors such as SF1 and U2AF. Its expression is ubiquitous but enriched in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUGP2 Knockout HEK293 Cell Line | EDJ-KQ6918 | Human | 10147 | Details Get a Quote |
| SUGP2 Knockout A-549 Cell Line | EDJ-KQ31553 | Human | 10147 | Details Get a Quote |
| SUGP2 Knockout HCT 116 Cell Line | EDJ-KQ31554 | Human | 10147 | Details Get a Quote |
| SUGP2 Knockout HeLa Cell Line | EDJ-KQ31555 | Human | 10147 | Details Get a Quote |
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