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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SEC23A
SEC23 homolog A, COPII component
Chromosome 14 Β· 14q21.1
NCBI Gene: 10484Ensembl: ENSG00000100934.16HGNC: HGNC:10701UniProt: Q15436
153PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumzinc ion bindingendoplasmic reticulum exit sitecytosolcraniolenticulosutural dysplasiavitamin D deficiencyalcohol drinkingmale reproductive organ cancer
✦AI Summary

SEC23A is a core component of the coat protein complex II (COPII), essential for forming transport vesicles from the endoplasmic reticulum to the Golgi complex 1. The protein functions in cargo selection and membrane deformation during ER-to-Golgi transport 2. SEC23A mediates intracellular translocation of adipose triglyceride lipase (ATGL) under metabolic stress, regulating cardiac lipid homeostasis and preventing heart failure with preserved ejection fraction 3. While SEC23A and its paralog SEC23B share equivalent biochemical functions and interchangeable protein interactions, they exhibit distinct tissue-specific expression patterns 1. SEC23B deficiency causes congenital dyserythropoietic anemia type II, whereas SEC23A deficiency results in craniolenticulosutural dysplasia (CLSD), characterized by skeletal defects, delayed fontanel closure, and neurological impairment 4. Genome-wide association studies link SEC23A variants to circulating vitamin D levels 5. Recently, SEC23A was identified as a driver of gastric cancer progression through cell cycle regulation and tumor growth promotion 6. SEC23A expression is regulated at the transcriptional level, with mTOR signaling modulating its interaction with other COPII components to control lipogenic pathways 7.

Sources cited
1
SEC23A and SEC23B are paralogous COPII components with equivalent biochemical functions but distinct tissue-specific expression and clinical phenotypes
PMID: 30065114
2
SEC23A mediates ATGL translocation under fatty acid stimulation to regulate cardiac lipid homeostasis and prevent HFpEF
PMID: 40130322
3
SEC23A interacts with TANGO1 at ER exit sites to facilitate selective cargo export based on size
PMID: 38991587
4
SEC23A mutations cause craniolenticulosutural dysplasia with skeletal defects and neurological manifestations
PMID: 38275611
5
SEC23A variants are associated with circulating vitamin D levels in GWAS studies
PMID: 30316967
6
SEC23A is upregulated in gastric cancer and promotes cell proliferation through cell cycle regulation
PMID: 40400443
7
SEC23A interaction with COPII components is regulated by mTOR signaling to control SREBP1 transport and lipid metabolism
PMID: 26147081
Disease Associationsβ“˜21
craniolenticulosutural dysplasiaOpen Targets
0.63Moderate
vitamin D deficiencyOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.14Weak
male reproductive organ cancerOpen Targets
0.13Weak
vitamin deficiency disorderOpen Targets
0.13Weak
metabolic syndrome XOpen Targets
0.10Weak
anxiety disorderOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
urinary bladder carcinomaOpen Targets
0.07Suggestive
insomniaOpen Targets
0.06Suggestive
hypertensionOpen Targets
0.06Suggestive
melanomaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
gastric adenocarcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
medullary thyroid gland carcinomaOpen Targets
0.04Suggestive
pachyonychia congenitaOpen Targets
0.03Suggestive
melorheostosis with osteopoikilosisOpen Targets
0.03Suggestive
fracture of pelvisOpen Targets
0.03Suggestive
Craniolenticulosutural dysplasiaUniProt
Pathogenic Variants3
NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys)Likely pathogenic
Craniolenticulosutural dysplasia
β˜…β˜†β˜†β˜†2023β†’ Residue 599
NM_006364.4(SEC23A):c.1227+2T>GLikely pathogenic
Craniolenticulosutural dysplasia
β˜…β˜†β˜†β˜†2020
NM_006364.4(SEC23A):c.1144T>C (p.Phe382Leu)Pathogenic
Craniolenticulosutural dysplasia
β˜†β˜†β˜†β˜†2007β†’ Residue 382
View on ClinVar β†—
Related Genes
STX5Protein interaction100%GOSR2Protein interaction100%SEC22AProtein interaction100%PEF1Protein interaction99%SEC31BProtein interaction98%KLHL12Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Liver
71%
Brain
62%
Ovary
43%
Lung
40%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
SEC23ASTX5GOSR2SEC22APEF1SEC31BKLHL12
PROTEIN STRUCTURE
Preparing viewer…
PDB2NUT Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.41–0.71]
RankingsWhere SEC23A stands among ~20K protein-coding genes
  • #2,960of 20,598
    Most Researched153 Β· top quartile
  • #3,955of 5,498
    Most Pathogenic Variants3
  • #5,418of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedSEC23A
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
XBP1s-EDEM2 Prevents the Onset and Development of HFpEF by Ameliorating Cardiac Lipotoxicity.
PMID: 40130322
Circulation Β· 2025
1.00
2
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
PMID: 19561605
Nat Genet Β· 2009
0.90
3
Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.
PMID: 30065114
Proc Natl Acad Sci U S A Β· 2018
0.80
4
S100A8 transported by SEC23A inhibits metastatic colonization via autocrine activation of autophagy.
PMID: 32811814
Cell Death Dis Β· 2020
0.72
5
Endoplasmic reticulum exit sites are segregated for secretion based on cargo size.
PMID: 38991587
Dev Cell Β· 2024
0.70