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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SERGEF
secretion regulating guanine nucleotide exchange factor
Chromosome 11 · 11p15.1
NCBI Gene: 26297Ensembl: ENSG00000129158.12HGNC: HGNC:17499UniProt: A8K8C1
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmcytosolprotein bindingnegative regulation of protein secretioninsomniafemur fractureobesityplacenta praevia
✦AI Summary

SERGEF (secretion-regulating guanine nucleotide exchange factor) is a probable guanine nucleotide exchange factor (GEF) involved in cellular secretion and signal transduction. The protein localizes to the cytoplasm, cytosol, nucleus, and nucleoplasm, where it likely functions in protein secretion regulation 1. SERGEF belongs to the RCC1-related GEF family and interacts with secretory machinery proteins; downregulation of related GEF-interacting proteins increases proteoglycan secretion, suggesting SERGEF negatively regulates protein secretion 1. The gene is located on chromosome 11 and shows evolutionary conservation across eukaryotes 2. Clinically, SERGEF variants are associated with multiple disease contexts. A SNP in SERGEF (rs2023902) increases smokeless tobacco use risk among Mexican heritage youth 3. SERGEF is included in a 15-gene biomarker for distinguishing benign from malignant thyroid tumors in cytologically indeterminate cases 4. In cardiovascular research, SERGEF variants show genome-wide significant associations with carotid artery intima-media thickness and stroke risk in African American populations, potentially through local European ancestry effects 56. Additionally, SERGEF co-expresses with NFATc1 in vascular smooth muscle cells during osteogenic transformation in the osteosarcoma microenvironment, suggesting involvement in cytoskeletal remodeling 7.

Sources cited
1
SERGEF-related GEFs interact with secretory machinery and regulate proteoglycan secretion
PMID: 14980502
2
SERGEF is an RCC1-related GEF on chromosome 11 with evolutionary conservation
PMID: 10571079
3
SERGEF SNP rs2023902 associated with increased smokeless tobacco use risk in youth
PMID: 26111525
4
SERGEF is part of a 15-gene biomarker for thyroid cancer diagnosis
PMID: 27035928
5
SERGEF variants associated with carotid artery intima-media thickness via admixture analysis
PMID: 29206233
6
SERGEF shows genome-wide significant association with subclinical atherosclerosis and stroke risk in African Americans
PMID: 28408707
7
SERGEF co-expresses with NFATc1 in vascular smooth muscle cells during osteogenic transformation
PMID: 41021149
Disease Associationsⓘ20
insomniaOpen Targets
0.32Weak
femur fractureOpen Targets
0.24Weak
obesityOpen Targets
0.22Weak
placenta praeviaOpen Targets
0.22Weak
smoking initiationOpen Targets
0.03Suggestive
AscitesOpen Targets
0.02Suggestive
pericarditisOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
lung carcinomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
thyroid cancerOpen Targets
0.00Suggestive
strokeOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXOC2Protein interaction91%USH1CProtein interaction77%DPH3Protein interaction68%FRMD4AShared pathway33%CYP51A1Shared pathway17%RHBDF1Shared pathway14%
Tissue Expression6 tissues
Brain
100%
Ovary
89%
Liver
49%
Lung
43%
Heart
43%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
SERGEFEXOC2USH1CDPH3FRMD4ACYP51A1RHBDF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UGK8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.61–1.10]
RankingsWhere SERGEF stands among ~20K protein-coding genes
  • #15,381of 20,598
    Most Researched16
  • #11,250of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedSERGEF
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Demographic, psychosocial, and genetic risk associated with smokeless tobacco use among Mexican heritage youth.
PMID: 26111525
BMC Med Genet · 2015
1.00
2
A robust biomarker of differential correlations improves the diagnosis of cytologically indeterminate thyroid cancers.
PMID: 27035928
Int J Mol Med · 2016
0.89
3
Single-cell RNA sequencing reveals NFATc1-mediated regulatory mechanisms of vascular smooth muscle cell osteogenic transformation in the osteosarcoma microenvironment.
PMID: 41021149
Discov Oncol · 2025
0.78
4
Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS).
PMID: 29206233
PLoS One · 2017
0.67
5
Admixture Mapping of Subclinical Atherosclerosis and Subsequent Clinical Events Among African Americans in 2 Large Cohort Studies.
PMID: 28408707
Circ Cardiovasc Genet · 2017
0.56