HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SEC16B
SEC16 homolog B, endoplasmic reticulum export factor
Chromosome 1 · 1q25.2
NCBI Gene: 89866Ensembl: ENSG00000120341.19HGNC: HGNC:30301UniProt: E9PK14
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum to Golgi vesicle-mediated transportendoplasmic reticulum exit siteendoplasmic reticulum membraneendoplasmic reticulum organizationAbnormality of the skeletal systemobesitytype 2 diabetes mellitusbreast cancer
✦AI Summary

SEC16B is a scaffold protein localized to endoplasmic reticulum exit sites (ERES) that plays specialized roles in intracellular trafficking. Functionally, SEC16B is required for COPII vesicle assembly and organization of transitional ER, facilitating cargo export from the ER to the Golgi apparatus 1. SEC16B also regulates peroxisomal biogenesis by controlling transport of PEX3 and PEX16 from the ER to peroxisomes 2. Unlike the broader SEC16A isoform, SEC16B appears to have non-redundant, specialized functions 1. SEC16B expression is regulated by ER stress through unfolded protein response elements and ATF4-responsive sequences 3. Disease relevance is substantial across multiple conditions. Genome-wide association studies consistently link SEC16B polymorphisms (rs543874, rs10913469, rs633715) to increased obesity and BMI risk across diverse ethnic populations 456. Mechanistically, intestinal SEC16B deficiency impairs chylomicron secretion and apoB lipidation, reducing postprandial triglyceride output 7. Clinically, homozygous SEC16B mutations cause osteogenesis imperfecta through collagen trafficking defects, ER accumulation, and enhanced ER stress 8. Additionally, SEC16B variants associate with female-specific susceptibility to adolescent idiopathic scoliosis 9.

Sources cited
1
SEC16B is a specialized, non-redundant form of Sec16 localized to transitional ER that functions in COPII coat assembly
PMID: 22355596
2
SEC16B regulates transport of peroxisomal biogenesis factors PEX3 and PEX16 from ER to peroxisomes
PMID: 21768384
3
SEC16B is an ER stress-inducible gene regulated by unfolded protein response elements and ATF4
PMID: 32815086
4
SEC16B polymorphisms rs10913469 and rs543874 are associated with increased BMI and obesity risk across multiple ethnic populations
PMID: 27655580
5
SEC16B rs543874 and rs10913469 variants show gene-gene interactions associated with overweight/obesity in 12-month-old Chinese infants
PMID: 35295960
6
SEC16B rs633715 polymorphism is associated with susceptibility to overweight and obesity in Han Chinese preschool children
PMID: 38604958
7
Intestinal SEC16B is required for chylomicron secretion and dietary lipid absorption; deficiency protects from diet-induced obesity
PMID: 36796587
8
Homozygous SEC16B mutations cause osteogenesis imperfecta through impaired collagen trafficking, ER accumulation, and ER stress
PMID: 36916446
9
SEC16B variant rs545608 shows female-specific association with adolescent idiopathic scoliosis, with reduced tissue expression in patients
PMID: 33958541
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
obesityOpen Targets
0.53Moderate
type 2 diabetes mellitusOpen Targets
0.46Moderate
breast cancerOpen Targets
0.40Weak
overnutritionOpen Targets
0.37Weak
metabolic syndromeOpen Targets
0.36Weak
adolescent idiopathic scoliosisOpen Targets
0.36Weak
morbid obesityOpen Targets
0.35Weak
tympanic membrane perforationOpen Targets
0.35Weak
smoking initiationOpen Targets
0.34Weak
smoking behaviorOpen Targets
0.34Weak
osteoarthritis, hipOpen Targets
0.34Weak
osteoarthritis, kneeOpen Targets
0.34Weak
vertebral column disorderOpen Targets
0.31Weak
cholelithiasisOpen Targets
0.30Weak
viral diseaseOpen Targets
0.30Weak
gestational diabetesOpen Targets
0.30Weak
coffee consumptionOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.26Weak
preeclampsiaOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMEM18Protein interaction96%RGNProtein interaction95%NEGR1Protein interaction93%MC4RProtein interaction87%FAIM2Protein interaction87%MTCH2Protein interaction87%
Tissue Expression6 tissues
Liver
100%
Brain
6%
Ovary
6%
Heart
3%
Lung
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SEC16BTMEM18RGNNEGR1MC4RFAIM2MTCH2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96JE7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.81–1.13]
RankingsWhere SEC16B stands among ~20K protein-coding genes
  • #9,274of 20,598
    Most Researched47
  • #11,648of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedSEC16B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Intestinal SEC16B modulates obesity by regulating chylomicron metabolism.
PMID: 36796587
Mol Metab · 2023
1.00
2
[Association between
PMID: 27655580
Zhonghua Liu Xing Bing Xue Za Zhi · 2016
0.90
3
Associations between Gene-Gene Interaction and Overweight/Obesity of 12-Month-Old Chinese Infants.
PMID: 35295960
Biomed Res Int · 2022
0.80
4
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
PMID: 36916446
EMBO Mol Med · 2023
0.70
5
Characterization of human Sec16B: indications of specialized, non-redundant functions.
PMID: 22355596
Sci Rep · 2011
0.60