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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SYMPK
symplekin scaffold protein
Chromosome 19 · 19q13.32
NCBI Gene: 8189Ensembl: ENSG00000125755.21HGNC: HGNC:22935UniProt: Q92797
127PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA 3'-end processingprotein bindingplasma membranenegative regulation of protein bindingdengue diseasedementianeurodegenerative diseaseasthma
✦AI Summary

SYMPK (symplekin scaffold protein) is a multifunctional scaffold protein located on chromosome 19.3 that plays critical roles in both RNA processing and cellular architecture. Functionally, SYMPK serves as a core component of the mRNA 3' end processing machinery, specifically functioning within the cleavage and polyadenylation specificity factor (CPSF) complex to regulate histone mRNA 3'-end processing and pre-mRNA polyadenylation 1. Beyond its canonical role in 3' end processing, SYMPK exhibits an unanticipated function as a global regulator of alternative splicing. It acts as a cofactor with RBFOX2, NOVA2, and HNRNPA1 RNA-binding proteins to regulate alternative internal exon usage by modulating early intron recognition factors U2AF and U1 snRNP binding 2. SYMPK is also a component of tight junction plaques, contributing to epithelial barrier function 3. Clinically, SYMPK variants show disease associations: a novel SYMPK variant (rs56848936) was identified as significantly associated with colon cancer risk in African Americans, with an odds ratio of 0.61 4. In celiac disease, SYMPK expression is upregulated in active disease but normalizes after gluten-free diet treatment, suggesting reversibility of intestinal epithelial dysfunction 3. Additionally, SYMPK serves as a stable housekeeping gene for gene expression analyses across multiple cancer types and normal tissues 567.

Sources cited
1
SYMPK functions as a cofactor with RNA-binding proteins to regulate alternative splicing of internal exons and recruits CPSF complex to pre-mRNA
PMID: 25921069
2
SYMPK is upregulated in active celiac disease and involved in tight junction gene expression; expression normalizes on gluten-free diet
PMID: 24552675
3
SYMPK variant rs56848936 is associated with colon cancer risk in African Americans with odds ratio 0.61
PMID: 28295283
4
SYMPK is identified as a core pre-mRNA 3' end processing factor with prognostic relevance and potential as a therapeutic target in pan-cancer analysis
PMID: 39075070
5
SYMPK is validated as the best reference gene for RT-qPCR normalization in papillary thyroid carcinoma with lowest variation
PMID: 33110161
6
SYMPK is identified as a novel housekeeping gene suitable for internal control in breast cancer gene expression analyses
PMID: 27526934
7
SYMPK is evaluated as a candidate housekeeping gene for normalization in 4T1 breast cancer model studies
PMID: 39488625
8
SYMPK gene is chromosomally localized to 19q13.3 and encodes a tight junction-related protein
PMID: 9330635
Disease Associationsⓘ20
dengue diseaseOpen Targets
0.37Weak
dementiaOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.31Weak
asthmaOpen Targets
0.30Weak
lower respiratory tract diseaseOpen Targets
0.30Weak
heart diseaseOpen Targets
0.29Weak
coronary atherosclerosisOpen Targets
0.24Weak
inflammatory bowel diseaseOpen Targets
0.14Weak
gallstonesOpen Targets
0.14Weak
cholelithiasisOpen Targets
0.13Weak
gallbladder diseaseOpen Targets
0.12Weak
atrial fibrillationOpen Targets
0.12Weak
ovarian neoplasmOpen Targets
0.12Weak
coronary artery diseaseOpen Targets
0.10Weak
respiratory system diseaseOpen Targets
0.10Suggestive
Chronic Obstructive AsthmaOpen Targets
0.10Suggestive
adult onset asthmaOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
myocardial infarctionOpen Targets
0.08Suggestive
Hb Bart's hydrops fetalisOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLBPProtein interaction100%SNRPGProtein interaction100%SNRPFProtein interaction100%LSM10Protein interaction100%SNRPBProtein interaction100%SNRPEProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
91%
Ovary
87%
Bone Marrow
80%
Brain
59%
Heart
55%
Gene Interaction Network
Click a node to explore
SYMPKSLBPSNRPGSNRPFLSM10SNRPBSNRPE
PROTEIN STRUCTURE
Preparing viewer…
PDB3O2T · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.38 [0.30–0.49]
RankingsWhere SYMPK stands among ~20K protein-coding genes
  • #3,706of 20,598
    Most Researched127 · top quartile
  • #2,857of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedSYMPK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The pseudogene problem and RT-qPCR data normalization; SYMPK: a suitable reference gene for papillary thyroid carcinoma.
PMID: 33110161
Sci Rep · 2020
1.00
2
Global Promotion of Alternative Internal Exon Usage by mRNA 3' End Formation Factors.
PMID: 25921069
Mol Cell · 2015
0.90
3
Alteration of tight junction gene expression in celiac disease.
PMID: 24552675
J Pediatr Gastroenterol Nutr · 2014
0.80
4
A strategy to identify housekeeping genes suitable for analysis in breast cancer diseases.
PMID: 27526934
BMC Genomics · 2016
0.70
5
Screening and validating the optimal panel of housekeeping genes for 4T1 breast carcinoma and metastasis studies in mice.
PMID: 39488625
Sci Rep · 2024
0.60